Ann-Christine Syvänen

Genetic risk factors and clinical manifestations of systemic lupus erythematosus: Large‐scale analysis of genetic predisposition and disease subtypes

Reid, Sarah; Sandling, Johanna K.; Pucholt, Pascal; Sayadi, Ahmed et al.

Ingår i Journal of Internal Medicine, s. 95-108, 2026

• DOI för Genetic risk factors and clinical manifestations of systemic lupus erythematosus: Large‐scale analysis of genetic predisposition and disease subtypes
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Unraveling the Genetics of Shared Clinical and Serological Manifestations in Patients With Systemic Inflammatory Autoimmune Diseases

Bianchi, Matteo; Kozyrev, Sergey V.; Notarnicola, Antonella; Sandling, Johanna K. et al.

Ingår i Arthritis & Rheumatology, s. 212-225, 2025

• DOI för Unraveling the Genetics of Shared Clinical and Serological Manifestations in Patients With Systemic Inflammatory Autoimmune Diseases
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Multi-modal single cell sequencing of B cells in primary Sjögren's Syndrome.

Arvidsson, Gustav; Czarnewski, Paulo; Johansson, Alina; Raine, Amanda et al.

Ingår i Arthritis & Rheumatology, s. 255-267, 2024

• DOI för Multi-modal single cell sequencing of B cells in primary Sjögren's Syndrome.
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From early methods for DNA diagnostics to genomes and epigenomes at high resolution during four decades: a personal perspective

Syvänen, Ann-Christine

Ingår i Upsala Journal of Medical Sciences, 2024

• DOI för From early methods for DNA diagnostics to genomes and epigenomes at high resolution during four decades: a personal perspective
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Multimodal classification of molecular subtypes in pediatric acute lymphoblastic leukemia

Krali, Olga; Marincevic-Zuniga, Yanara; Arvidsson, Gustav; Enblad, Anna Pia et al.

Ingår i npj Precision Oncology, 2023

• DOI för Multimodal classification of molecular subtypes in pediatric acute lymphoblastic leukemia
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Genetic risk factors and clinical manifestations of systemic lupus erythematosus: Large‐scale analysis of genetic predisposition and disease subtypes

Reid, Sarah; Sandling, Johanna K.; Pucholt, Pascal; Sayadi, Ahmed et al.

Ingår i Journal of Internal Medicine, s. 95-108, 2026

• DOI för Genetic risk factors and clinical manifestations of systemic lupus erythematosus: Large‐scale analysis of genetic predisposition and disease subtypes
• Ladda ner fulltext (pdf) av Genetic risk factors and clinical manifestations of systemic lupus erythematosus: Large‐scale analysis of genetic predisposition and disease subtypes

Unraveling the Genetics of Shared Clinical and Serological Manifestations in Patients With Systemic Inflammatory Autoimmune Diseases

Bianchi, Matteo; Kozyrev, Sergey V.; Notarnicola, Antonella; Sandling, Johanna K. et al.

Ingår i Arthritis & Rheumatology, s. 212-225, 2025

• DOI för Unraveling the Genetics of Shared Clinical and Serological Manifestations in Patients With Systemic Inflammatory Autoimmune Diseases
• Ladda ner fulltext (pdf) av Unraveling the Genetics of Shared Clinical and Serological Manifestations in Patients With Systemic Inflammatory Autoimmune Diseases

Multi-modal single cell sequencing of B cells in primary Sjögren's Syndrome.

Arvidsson, Gustav; Czarnewski, Paulo; Johansson, Alina; Raine, Amanda et al.

Ingår i Arthritis & Rheumatology, s. 255-267, 2024

• DOI för Multi-modal single cell sequencing of B cells in primary Sjögren's Syndrome.
• Ladda ner fulltext (pdf) av Multi-modal single cell sequencing of B cells in primary Sjögren's Syndrome.

Multimodal classification of molecular subtypes in pediatric acute lymphoblastic leukemia

Krali, Olga; Marincevic-Zuniga, Yanara; Arvidsson, Gustav; Enblad, Anna Pia et al.

Ingår i npj Precision Oncology, 2023

• DOI för Multimodal classification of molecular subtypes in pediatric acute lymphoblastic leukemia
• Ladda ner fulltext (pdf) av Multimodal classification of molecular subtypes in pediatric acute lymphoblastic leukemia

Distinct HLA associations with autoantibody-defined subgroups in idiopathic inflammatory myopathies

Leclair, Valerie; Galindo-Feria, Angeles S.; Rothwell, Simon; Krystufkova, Olga et al.

Ingår i EBioMedicine, 2023

• DOI för Distinct HLA associations with autoantibody-defined subgroups in idiopathic inflammatory myopathies
• Ladda ner fulltext (pdf) av Distinct HLA associations with autoantibody-defined subgroups in idiopathic inflammatory myopathies

Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia

Rezayee, Fatemah; Eisfeldt, Jesper; Skaftason, Aron; Ofverholm, Ingegerd et al.

Ingår i Frontiers in Oncology, 2023

• DOI för Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia
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Complement C4 Copy Number Variation is Linked to SSA/Ro and SSB/La Autoantibodies in Systemic Inflammatory Autoimmune Diseases

Lundtoft, Christian; Pucholt, Pascal; Martin, Myriam; Bianchi, Matteo et al.

Ingår i Arthritis & Rheumatology, s. 1440-1450, 2022

• DOI för Complement C4 Copy Number Variation is Linked to SSA/Ro and SSB/La Autoantibodies in Systemic Inflammatory Autoimmune Diseases
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Contributions of de novo variants to systemic lupus erythematosus

Carlsson Almlöf, Jonas; Nystedt, Sara; Mechtidou, Aikaterini; Leonard, Dag et al.

Ingår i European Journal of Human Genetics, s. 184-193, 2021

• DOI för Contributions of de novo variants to systemic lupus erythematosus
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Variants in BANK1 are associated with lupus nephritis of European ancestry.

Bolin, Karin; Imgenberg-Kreuz, Juliana; Leonard, Dag; Sandling, Johanna K. et al.

Ingår i Genes and Immunity, s. 194-202, 2021

• DOI för Variants in BANK1 are associated with lupus nephritis of European ancestry.
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DNA Methylation-Based Interferon Scores Associate With Sub-Phenotypes in Primary Sjögren's Syndrome

Imgenberg-Kreuz, Juliana; Sandling, Johanna K.; Norheim, Katrine Braekke; Johnsen, Svein Joar Auglaend et al.

Ingår i Frontiers in Immunology, 2021

• DOI för DNA Methylation-Based Interferon Scores Associate With Sub-Phenotypes in Primary Sjögren's Syndrome
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Interaction between the STAT4rs11889341(T) risk allele and smoking confers increased risk of myocardial infarction and nephritis in patients with systemic lupus erythematosus

Reid, Sarah; Hagberg, Niklas; Sandling, Johanna K.; Alexsson, Andrei et al.

Ingår i Annals of the Rheumatic Diseases, s. 1183-1189, 2021

• DOI för Interaction between the STAT4rs11889341(T) risk allele and smoking confers increased risk of myocardial infarction and nephritis in patients with systemic lupus erythematosus
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Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing

Sandling, Johanna K.; Pucholt, Pascal; Hultin-Rosenberg, Lina; Farias, Fabiana H. G. et al.

Ingår i Annals of the Rheumatic Diseases, s. 109-117, 2021

• DOI för Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing
• Ladda ner fulltext (pdf) av Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing

Mutational patterns and clonal evolution from diagnosis to relapse in pediatric acute lymphoblastic leukemia

Sayyab, Shumaila; Lundmark, Anders; Larsson, Malin; Ringner, Markus et al.

Ingår i Scientific Reports, 2021

• DOI för Mutational patterns and clonal evolution from diagnosis to relapse in pediatric acute lymphoblastic leukemia
• Ladda ner fulltext (pdf) av Mutational patterns and clonal evolution from diagnosis to relapse in pediatric acute lymphoblastic leukemia

High genetic risk score is associated with early disease onset, damage accrual and decreased survival in systemic lupus erythematosus

Reid, Sarah; Alexsson, Andrei; Frodlund, Martina; Morris, David et al.

Ingår i Annals of the Rheumatic Diseases, s. 363-369, 2020

• DOI för High genetic risk score is associated with early disease onset, damage accrual and decreased survival in systemic lupus erythematosus
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Protein and DNA methylation-based scores as surrogate markers for interferon system activation in patients with primary Sjögren's syndrome

Björk, Albin; Andersson, Elina Richardsdotter; Imgenberg-Kreuz, Juliana; Thorlacius, Gudny Ella et al.

Ingår i RMD Open, 2020

• DOI för Protein and DNA methylation-based scores as surrogate markers for interferon system activation in patients with primary Sjögren's syndrome
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Refined detection and phasing of structural aberrations in pediatric acute lymphoblastic leukemia by linked-read whole-genome sequencing

Nordlund, Jessica; Marincevic-Zuniga, Yanara; Cavelier, Lucia; Raine, Amanda et al.

Ingår i Scientific Reports, 2020

• DOI för Refined detection and phasing of structural aberrations in pediatric acute lymphoblastic leukemia by linked-read whole-genome sequencing
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Exome sequencing reveals common and rare variants in F5 associated with ACE inhibitor and angiotensin receptor blocker-induced angioedema

Maroteau, Cyrielle; Siddiqui, Moneeza Kalhan; Veluchamy, Abirami; Carr, Fiona et al.

Ingår i Clinical Pharmacology and Therapeutics, s. 1195-1202, 2020

• DOI för Exome sequencing reveals common and rare variants in F5 associated with ACE inhibitor and angiotensin receptor blocker-induced angioedema
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Function of multiple sclerosis-protective HLA class I alleles revealed by genome-wide protein-quantitative trait loci mapping of interferon signalling

Lundtoft, Christian; Pucholt, Pascal; Imgenberg-Kreuz, Juliana; Carlsson Almlöf, Jonas et al.

Ingår i PLOS Genetics, 2020

• DOI för Function of multiple sclerosis-protective HLA class I alleles revealed by genome-wide protein-quantitative trait loci mapping of interferon signalling
• Ladda ner fulltext (pdf) av Function of multiple sclerosis-protective HLA class I alleles revealed by genome-wide protein-quantitative trait loci mapping of interferon signalling

Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia

Ivanov Öfverholm, I.; Zachariadis, V.; Taylan, F.; Marincevic-Zuniga, Yanara et al.

Ingår i Leukemia and Lymphoma, s. 604-613, 2020

• DOI för Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia
• Ladda ner fulltext (pdf) av Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia

Association of aberrant ASNS imprinting with asparaginase sensitivity and chromosomal abnormality in childhood BCP-ALL

Watanabe, A.; Miyake, K.; Nordlund, Jessica; Syvänen, Ann-Christine et al.

Ingår i Blood, s. 2319-2333, 2020

• DOI för Association of aberrant ASNS imprinting with asparaginase sensitivity and chromosomal abnormality in childhood BCP-ALL

Shared and Unique Patterns of DNA Methylation in Systemic Lupus Erythematosus and Primary Sjogren's Syndrome

Imgenberg-Kreuz, Juliana; Carlsson Almlöf, Jonas; Leonard, Dag; Sjöwall, Christopher et al.

Ingår i Frontiers in Immunology, 2019

• DOI för Shared and Unique Patterns of DNA Methylation in Systemic Lupus Erythematosus and Primary Sjogren's Syndrome
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Circulating Levels of Interferon Regulatory Factor-5 Associates With Subgroups of Systemic Lupus Erythematosus Patients.

Idborg, Helena; Zandian, Arash; Ossipova, Elena; Wigren, Edvard et al.

Ingår i Frontiers in Immunology, 2019

• DOI för Circulating Levels of Interferon Regulatory Factor-5 Associates With Subgroups of Systemic Lupus Erythematosus Patients.
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Genetic variations in A20 DUB domain provide a genetic link to citrullination and neutrophil extracellular traps in systemic lupus erythematosus

Odqvist, Lina; Jevnikar, Zala; Riise, Rebecca; Oberg, Lisa et al.

Ingår i Annals of the Rheumatic Diseases, s. 1363-1370, 2019

• DOI för Genetic variations in A20 DUB domain provide a genetic link to citrullination and neutrophil extracellular traps in systemic lupus erythematosus
• Ladda ner fulltext (pdf) av Genetic variations in A20 DUB domain provide a genetic link to citrullination and neutrophil extracellular traps in systemic lupus erythematosus

Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus

Almlöf, Jonas Carlsson; Nystedt, Sara; Leonard, Dag; Eloranta, Maija-Leena et al.

Ingår i Human Genetics, s. 141-150, 2019

• DOI för Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus
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A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts

Farias, Fabiana H. G.; Dahlqvist, Johanna; Kozyrev, Sergey V.; Leonard, Dag et al.

Ingår i European Journal of Human Genetics, s. 432-441, 2019

• DOI för A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts
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Exploring rare and low-frequency variants in the Saguenay-Lac-Saint-Jean population identified genes associated with asthma and allergy traits

Morin, Andreanne; Madore, Anne-Marie; Kwan, Tony; Ban, Maria et al.

Ingår i European Journal of Human Genetics, s. 90-101, 2019

• DOI för Exploring rare and low-frequency variants in the Saguenay-Lac-Saint-Jean population identified genes associated with asthma and allergy traits
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Interferon signature in patients with STAT1 gain-of-function mutation is epigenetically determined

Kaleviste, Epp; Saare, Mario; Leahy, Timothy Ronan; Bondet, Vincent et al.

Ingår i European Journal of Immunology, s. 790-800, 2019

• DOI för Interferon signature in patients with STAT1 gain-of-function mutation is epigenetically determined

Allele-Specific Methylation of SPDEF: A Novel Moderator of Psychosocial Stress and Substance Abuse

Tay, Nicole; Macare, Christine; Liu, Yun; Ruggeri, Barbara et al.

Ingår i American Journal of Psychiatry, s. 146-155, 2019

• DOI för Allele-Specific Methylation of SPDEF: A Novel Moderator of Psychosocial Stress and Substance Abuse

Neuronal Expression of Opioid Gene is Controlled by Dual Epigenetic and Transcriptional Mechanism in Human Brain

Bazov, Igor; Sarkisyan, Daniil; Kononenko, Olga; Watanabe, Hiroyuki et al.

Ingår i Cerebral Cortex, s. 3129-3142, 2018

• DOI för Neuronal Expression of Opioid Gene is Controlled by Dual Epigenetic and Transcriptional Mechanism in Human Brain

The STAT4 SLE risk allele rs7574865[T] is associated with increased IL-12-induced IFN-γ production in T cells from patients with SLE

Hagberg, Niklas; Joelsson, Martin; Leonard, Dag; Reid, Sarah et al.

Ingår i Annals of the Rheumatic Diseases, s. 1070-1077, 2018

• DOI för The STAT4 SLE risk allele rs7574865[T] is associated with increased IL-12-induced IFN-γ production in T cells from patients with SLE
• Ladda ner fulltext (pdf) av The STAT4 SLE risk allele rs7574865[T] is associated with increased IL-12-induced IFN-γ production in T cells from patients with SLE

Transcription profiling of peripheral B cells in antibody-positive primary Sjogren's syndrome reveals upregulated expression of CX3CR1 and a type I and type II interferon signature

Imgenberg-Kreuz, Juliana; Sandling, Johanna K.; Bjork, A.; Nordlund, J. et al.

Ingår i Scandinavian Journal of Immunology, 2018

• DOI för Transcription profiling of peripheral B cells in antibody-positive primary Sjogren's syndrome reveals upregulated expression of CX3CR1 and a type I and type II interferon signature
• Ladda ner fulltext (pdf) av Transcription profiling of peripheral B cells in antibody-positive primary Sjogren's syndrome reveals upregulated expression of CX3CR1 and a type I and type II interferon signature

DNA methylation mapping identifies gene regulatory effects in patients with systemic lupus erythematosus

Imgenberg-Kreuz, Juliana; Almlöf, Jonas Carlsson; Leonard, Dag; Alexsson, Andrei et al.

Ingår i Annals of the Rheumatic Diseases, s. 736-743, 2018

• DOI för DNA methylation mapping identifies gene regulatory effects in patients with systemic lupus erythematosus
• Ladda ner fulltext (pdf) av DNA methylation mapping identifies gene regulatory effects in patients with systemic lupus erythematosus

Shared and unique patterns of DNA methylation in primary Sjogren's syndrome and systemic lupus erythematosus

Imgenberg-Kreuz, Juliana; Leonard, Dag; Carlsson Almlöf, Jonas; Rantapaa-Dahlqvist, S. et al.

Ingår i Scandinavian Journal of Rheumatology, s. 3-3, 2018

Novel gene variants associated with cardiovascular disease in systemic lupus erythematosus and rheumatoid arthritis

Leonard, Dag; Svenungsson, Elisabet; Dahlqvist, Johanna; Alexsson, Andrei et al.

Ingår i Annals of the Rheumatic Diseases, s. 1063-1069, 2018

• DOI för Novel gene variants associated with cardiovascular disease in systemic lupus erythematosus and rheumatoid arthritis
• Ladda ner fulltext (pdf) av Novel gene variants associated with cardiovascular disease in systemic lupus erythematosus and rheumatoid arthritis

De novo mutations implicate novel genes in systemic lupus erythematosus

Pullabhatla, Venu; Roberts, Amy L.; Lewis, Myles J.; Mauro, Daniele et al.

Ingår i Human Molecular Genetics, s. 421-429, 2018

• DOI för De novo mutations implicate novel genes in systemic lupus erythematosus
• Ladda ner fulltext (pdf) av De novo mutations implicate novel genes in systemic lupus erythematosus

Damaged reward areas in human alcoholics: neuronal proportion decline and astrocyte activation

Sarkisyan, Daniil; Bazov, Igor; Watanabe, Hiroyuki; Kononenko, Olga et al.

Ingår i Acta Neuropathologica, s. 485-487, 2017

• DOI för Damaged reward areas in human alcoholics: neuronal proportion decline and astrocyte activation

Novel risk genes for systemic lupus erythematosus predicted by random forest classification

Carlsson Almlöf, Jonas; Alexsson, Andrei; Imgenberg-Kreuz, Juliana; Sylwan, Lina et al.

Ingår i Scientific Reports, 2017

• DOI för Novel risk genes for systemic lupus erythematosus predicted by random forest classification
• Ladda ner fulltext (pdf) av Novel risk genes for systemic lupus erythematosus predicted by random forest classification

Treatment-Associated DNA Methylation Patterns in Systemic Lupus Erythematosus

Imgenberg-Kreuz, Juliana; Almlöf, Jonas Carlsson; Leonard, Dag; Nordmark, Gunnel et al.

Ingår i Arthritis & Rheumatology, 2017

High Genetic Risk Score Is Associated with Increased Organ Damage in SLE

Reid, Sarah; Alexsson, Andrei; Frodlund, Martina; Sandling, Johanna K. et al.

Ingår i Arthritis & Rheumatology, 2017

Data Descriptor: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

Flannick, Jason; Fuchsberger, Christian; Mahajan, Anubha; Teslovich, Tanya M. et al.

Ingår i Scientific Data, 2017

• DOI för Data Descriptor: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls
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Identification of a novel proinsulin-associated SNP and demonstration that proinsulin is unlikely to be a causal factor in subclinical vascular remodelling using Mendelian randomisation

Strawbridge, Rona J.; Silveira, Angela; den Hoed, Marcel; Gustafsson, Stefan et al.

Ingår i Atherosclerosis, s. 196-204, 2017

• DOI för Identification of a novel proinsulin-associated SNP and demonstration that proinsulin is unlikely to be a causal factor in subclinical vascular remodelling using Mendelian randomisation
• Ladda ner fulltext (pdf) av Identification of a novel proinsulin-associated SNP and demonstration that proinsulin is unlikely to be a causal factor in subclinical vascular remodelling using Mendelian randomisation

Transcriptome sequencing in pediatric acute lymphoblastic leukemia identifies fusion genes associated with distinct DNA methylation profiles

Marincevic-Zuniga, Yanara; Dahlberg, Johan; Nilsson, Sara; Raine, Amanda et al.

Ingår i Journal of Hematology & Oncology, 2017

• DOI för Transcriptome sequencing in pediatric acute lymphoblastic leukemia identifies fusion genes associated with distinct DNA methylation profiles
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Transancestral mapping and genetic load in systemic lupus erythematosus

Langefeld, Carl D.; Ainsworth, Hannah C.; Graham, Deborah S. Cunninghame; Kelly, Jennifer A. et al.

Ingår i Nature Communications, 2017

• DOI för Transancestral mapping and genetic load in systemic lupus erythematosus
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Genetic loci associated with heart rate variability and their effects on cardiac disease risk

Nolte, Ilja M.; Munoz, M. Loretto; Tragante, Vinicius; Amare, Azmeraw T. et al.

Ingår i Nature Communications, 2017

• DOI för Genetic loci associated with heart rate variability and their effects on cardiac disease risk
• Ladda ner fulltext (pdf) av Genetic loci associated with heart rate variability and their effects on cardiac disease risk

SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population

Ameur, Adam; Dahlberg, Johan; Olason, Pall; Vezzi, Francesco et al.

Ingår i European Journal of Human Genetics, s. 1253-1260, 2017

• DOI för SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population
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SPlinted Ligation Adapter Tagging (SPLAT), a novel library preparation method for whole genome bisulphite sequencing

Raine, Amanda; Manlig, Erika; Wahlberg, Per; Syvänen, Ann-Christine et al.

Ingår i Nucleic Acids Research, 2017

• DOI för SPlinted Ligation Adapter Tagging (SPLAT), a novel library preparation method for whole genome bisulphite sequencing
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A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

Manning, Alisa; Highland, Heather M.; Gasser, Jessica; Sim, Xueling et al.

Ingår i Diabetes, s. 2019-2032, 2017

• DOI för A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

Epigenome-wide DNA methylation patterns associated with fatigue in primary Sjogren's syndrome

Norheim, Katrine Braekke; Imgenberg-Kreuz, Juliana; Jonsdottir, Kristin; Janssen, Emiel A. M. et al.

Ingår i Rheumatology, s. 1074-1082, 2016

• DOI för Epigenome-wide DNA methylation patterns associated with fatigue in primary Sjogren's syndrome

C1qtnf4 Mutation Identified by Exome Sequencing Is Associated with Systemic Lupus Erythematosus and Dysregulation of Tnf-Induced Apoptosis

Mauro, D.; Lewis, M. J.; Pullabhatla, V.; Vyse, S. et al.

Ingår i Annals of the Rheumatic Diseases, s. 145-154, 2016

• DOI för C1qtnf4 Mutation Identified by Exome Sequencing Is Associated with Systemic Lupus Erythematosus and Dysregulation of Tnf-Induced Apoptosis

Genome-wide DNA methylation analysis in multiple tissues in primary Sjögren's syndrome reveals regulatory effects at interferon-induced genes

Imgenberg-Kreuz, Juliana; Sandling, Johanna K.; Almlöf, Jonas Carlsson; Nordlund, Jessica et al.

Ingår i Annals of the Rheumatic Diseases, s. 2029-2036, 2016

• DOI för Genome-wide DNA methylation analysis in multiple tissues in primary Sjögren's syndrome reveals regulatory effects at interferon-induced genes
• Ladda ner fulltext (pdf) av Genome-wide DNA methylation analysis in multiple tissues in primary Sjögren's syndrome reveals regulatory effects at interferon-induced genes

Genome-wide association and Mendelian randomization study of NT-proBNP in patients with acute coronary syndrome

Johansson, Åsa; Eriksson, Niclas; Lindholm, Daniel; Varenhorst, Christoph et al.

Ingår i Human Molecular Genetics, s. 1447-1456, 2016

• DOI för Genome-wide association and Mendelian randomization study of NT-proBNP in patients with acute coronary syndrome

DNA methylome analysis of acute lymphoblastic leukemia cells reveals stochastic de novo DNA methylation in CpG islands

Wahlberg, Per; Lundmark, Anders; Nordlund, Jessica; Busche, Stephan et al.

Ingår i Epigenomics, s. 1367-1387, 2016

• DOI för DNA methylome analysis of acute lymphoblastic leukemia cells reveals stochastic de novo DNA methylation in CpG islands
• Ladda ner fulltext (pdf) av DNA methylome analysis of acute lymphoblastic leukemia cells reveals stochastic de novo DNA methylation in CpG islands

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals

Ehret, Georg B.; Ferreira, Teresa; Chasman, Daniel I.; Jackson, Anne U. et al.

Ingår i Nature Genetics, s. 1171-1184, 2016

• DOI för The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals

Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells

Morin, Andreanne; Kwan, Tony; Ge, Bing; Letourneau, Louis et al.

Ingår i BMC Medical Genomics, 2016

• DOI för Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells
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Identification of novel genetic causes of Rett syndrome-like phenotypes

Lopes, Fatima; Barbosa, Mafalda; Ameur, Adam; Soares, Gabriela et al.

Ingår i Journal of Medical Genetics, s. 190-199, 2016

• DOI för Identification of novel genetic causes of Rett syndrome-like phenotypes

Deep targeted sequencing in pediatric acute lymphoblastic leukemia unveils distinct mutational patterns between genetic subtypes and novel relapse-associated genes

Lindqvist, C. Mårten; Lundmark, Anders; Nordlund, Jessica; Freyhult, Eva et al.

Ingår i Oncotarget, s. 64071-64088, 2016

• DOI för Deep targeted sequencing in pediatric acute lymphoblastic leukemia unveils distinct mutational patterns between genetic subtypes and novel relapse-associated genes

The genetic architecture of type 2 diabetes

Fuchsberger, Christian; Flannick, Jason; Teslovich, Tanya M.; Mahajan, Anubha et al.

Ingår i Nature, s. 41-47, 2016

• DOI för The genetic architecture of type 2 diabetes

CopyNumber450kCancer: baseline correction for accurate copy number calling from the 450k methylation array

Marzouka, Nour-al-dain; Nordlund, Jessica; Bäcklin, Christofer L.; Lönnerholm, Gudmar et al.

Ingår i Bioinformatics, s. 1080-1082, 2016

• DOI för CopyNumber450kCancer: baseline correction for accurate copy number calling from the 450k methylation array
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PAX5-ESRRB is a recurrent fusion gene in B-cell precursor pediatric acute lymphoblastic leukemia

Marincevic-Zuniga, Yanara; Zachariadis, Vasilios; Cavelier, Lucia; Castor, Anders et al.

Ingår i Haematologica, 2016

• DOI för PAX5-ESRRB is a recurrent fusion gene in B-cell precursor pediatric acute lymphoblastic leukemia

Genetic determinants of warfarin maintenance dose and time in therapeutic treatment range: a RE-LY genomics substudy

Eriksson, Niclas; Wallentin, Lars; Berglund, Lars; Axelsson, Tomas et al.

Ingår i Pharmacogenomics (London), s. 1425-1439, 2016

• DOI för Genetic determinants of warfarin maintenance dose and time in therapeutic treatment range: a RE-LY genomics substudy
• Ladda ner fulltext (pdf) av Genetic determinants of warfarin maintenance dose and time in therapeutic treatment range: a RE-LY genomics substudy

Epigenetic profiling in CD4+and CD8+T cells from Graves' disease patients reveals changes in genes associated with T cell receptor signaling

Limbach, Maia; Saare, Mario; Tserel, Liina; Kisand, Kai et al.

Ingår i Journal of Autoimmunity, s. 46-56, 2016

• DOI för Epigenetic profiling in CD4+and CD8+T cells from Graves' disease patients reveals changes in genes associated with T cell receptor signaling

Genome-wide repression of eRNA and target gene loci by the ETV6-RUNX1 fusion in acute leukemia

Teppo, Susanna; Laukkanen, Saara; Liuksiala, Thomas; Nordlund, Jessica et al.

Ingår i Genome Research, s. 1468-1477, 2016

• DOI för Genome-wide repression of eRNA and target gene loci by the ETV6-RUNX1 fusion in acute leukemia
• Ladda ner fulltext (pdf) av Genome-wide repression of eRNA and target gene loci by the ETV6-RUNX1 fusion in acute leukemia

Soluble CD93 Is Involved in Metabolic Dysregulation but Does Not Influence Carotid Intima-Media Thickness

Strawbridge, Rona J.; Hilding, Agneta; Silveira, Angela; Österholm, Cecilia et al.

Ingår i Diabetes, s. 2888-2899, 2016

• DOI för Soluble CD93 Is Involved in Metabolic Dysregulation but Does Not Influence Carotid Intima-Media Thickness

A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.

Madrigal, Irene; Alvarez-Mora, Maria Isabel; Rosell, Jordi; Rodríguez-Revenga, Laia et al.

Ingår i European Journal of Human Genetics, s. 1117-1123, 2016

• DOI för A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.

Epigenome-Wide DNA Methylation Patterns Associated with Fatigue in Primary Sjogren's Syndrome

Norheim, Katrine B.; Imgenberg-Kreuz, Juliana; Jonsdottir, Kristin; Janssen, Emiel et al.

Ingår i Arthritis & Rheumatology, 2015

• DOI för Epigenome-Wide DNA Methylation Patterns Associated with Fatigue in Primary Sjogren's Syndrome

Hypomethylation in Enhancer and Promoter Regions of Interferon Regulated Genes in Multiple Tissues Is Associated with Primary Sjogren's Syndrome

Imgenberg-Kreuz, Juliana; Sandling, Johanna K.; Almlöf, Jonas Carlsson; Nordlund, Jessica et al.

Ingår i Arthritis & Rheumatology, 2015

• DOI för Hypomethylation in Enhancer and Promoter Regions of Interferon Regulated Genes in Multiple Tissues Is Associated with Primary Sjogren's Syndrome

IFN-α production by plasmacytoid dendritic cell associations with polymorphisms in gene loci related to autoimmune and inflammatory diseases

Berggren, Olof; Alexsson, Andrei; Morris, David; Tandre, Karolina et al.

Ingår i Human Molecular Genetics, s. 3571-3581, 2015

• DOI för IFN-α production by plasmacytoid dendritic cell associations with polymorphisms in gene loci related to autoimmune and inflammatory diseases

Genome-wide analysis of DNA methylation in systemic lupus erythematosus

Sandling, Johanna K.; Imgenberg-Kreuz, Juliana; Carlsson Almlöf, Jonas; Nordmark, Gunnel et al.

Ingår i Clinical and Experimental Rheumatology, 2015

Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample

Ng, Esther; Salihovic, Samira; Lind, P. Monica; Mahajan, Anubha et al.

Ingår i Environmental Research, s. 95-101, 2015

• DOI för Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample
• Ladda ner fulltext (pdf) av Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample

Effect of genetic variations on ticagrelor plasma levels and clinical outcomes

Varenhorst, Christoph; Eriksson, Niclas; Johansson, Åsa; Barratt, Bryan J. et al.

Ingår i European Heart Journal, s. 1901-1912, 2015

• DOI för Effect of genetic variations on ticagrelor plasma levels and clinical outcomes

Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus

Mahajan, Anubha; Sim, Xueling; Ng, Hui Jin; Manning, Alisa et al.

Ingår i PLOS Genetics, 2015

• DOI för Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus
• Ladda ner fulltext (pdf) av Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus

The Mutational Landscape in Pediatric Acute Lymphoblastic Leukemia Deciphered by Whole Genome Sequencing

Lindqvist, C Mårten; Nordlund, Jessica; Ekman, Diana; Johansson, Anna et al.

Ingår i Human Mutation, s. 118-128, 2015

• DOI för The Mutational Landscape in Pediatric Acute Lymphoblastic Leukemia Deciphered by Whole Genome Sequencing

Hormone Replacement Therapy Associated White Blood Cell DNA Methylation and Gene Expression are Associated With Within-Pair Differences of Body Adiposity and Bone Mass

Bahl, Aileen; Pöllänen, Eija; Ismail, Khadeeja; Sipilä, Sarianna et al.

Ingår i Twin Research and Human Genetics, s. 647-661, 2015

• DOI för Hormone Replacement Therapy Associated White Blood Cell DNA Methylation and Gene Expression are Associated With Within-Pair Differences of Body Adiposity and Bone Mass

NLRC4 Inflammasome Is an Important Regulator of Interleukin-18 Levels in Patients With Acute Coronary Syndromes Genome-Wide Association Study in the PLATelet inhibition and patient Outcomes Trial (PLATO)

Johansson, Åsa; Eriksson, Niclas; Becker, Richard C.; Storey, Robert F. et al.

Ingår i Circulation, s. 498-506, 2015

• DOI för NLRC4 Inflammasome Is an Important Regulator of Interleukin-18 Levels in Patients With Acute Coronary Syndromes Genome-Wide Association Study in the PLATelet inhibition and patient Outcomes Trial (PLATO)

Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus

Bentham, James; Morris, David L; Cunninghame Graham, Deborah S; Pinder, Christopher L et al.

Ingår i Nature Genetics, s. 1457-1464, 2015

• DOI för Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

Winkler, Thomas W.; Justice, Anne E.; Graff, Mariaelisa; Barata, Llilda et al.

Ingår i PLOS Genetics, 2015

• DOI för The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study
• Ladda ner fulltext (pdf) av The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

GWAS-identified loci for coronary heart disease are associated with intima-media thickness and plaque presence at the carotid artery bulb

den Hoed, Marcel; Strawbridge, Rona J; Almgren, Peter; Gustafsson, Stefan et al.

Ingår i Atherosclerosis, s. 304-310, 2015

• DOI för GWAS-identified loci for coronary heart disease are associated with intima-media thickness and plaque presence at the carotid artery bulb

Adiposity as a cause of cardiovascular disease: a Mendelian randomization study

Hägg, Sara; Fall, Tove; Ploner, Alexander; Maegi, Reedik et al.

Ingår i International Journal of Epidemiology, s. 578-586, 2015

• DOI för Adiposity as a cause of cardiovascular disease: a Mendelian randomization study

Age- and sex-specific causal effects of adiposity on cardiovascular risk factors

Fall, Tove; Hägg, Sara; Ploner, Alexander; Mägi, Reedik et al.

Ingår i Diabetes, s. 1841-1852, 2015

• DOI för Age- and sex-specific causal effects of adiposity on cardiovascular risk factors

New genetic loci link adipose and insulin biology to body fat distribution

Shungin, Dmitry; Winkler, Thomas W; Croteau-Chonka, Damien C; Ferreira, Teresa et al.

Ingår i Nature, s. 187-196, 2015

• DOI för New genetic loci link adipose and insulin biology to body fat distribution

Genetic studies of body mass index yield new insights for obesity biology

Locke, Adam E; Kahali, Bratati; Berndt, Sonja I; Justice, Anne E et al.

Ingår i Nature, s. 197-206, 2015

• DOI för Genetic studies of body mass index yield new insights for obesity biology

DNA methylation-based subtype prediction for pediatric acute lymphoblastic leukemia

Nordlund, Jessica; Bäcklin, Christofer; Zachariadis, Vasilios; Cavelier, Lucia et al.

Ingår i Clinical Epigenetics, 2015

• DOI för DNA methylation-based subtype prediction for pediatric acute lymphoblastic leukemia
• Ladda ner fulltext (pdf) av DNA methylation-based subtype prediction for pediatric acute lymphoblastic leukemia

Defining the role of common variation in the genomic and biological architecture of adult human height

Wood, Andrew R; Esko, Tonu; Yang, Jian; Vedantam, Sailaja et al.

Ingår i Nature Genetics, s. 1173-1186, 2014

• DOI för Defining the role of common variation in the genomic and biological architecture of adult human height

A Central Role for GRB10 in Regulation of Islet Function in Man

Prokopenko, Inga; Poon, Wenny; Mägi, Reedik; Prasad B, Rashmi et al.

Ingår i PLOS Genetics, 2014

• DOI för A Central Role for GRB10 in Regulation of Islet Function in Man
• Ladda ner fulltext (pdf) av A Central Role for GRB10 in Regulation of Islet Function in Man

Influence of coronary artery disease-associated genetic variants on risk of venous thromboembolism

Bruzelius, Maria; Strawbridge, Rona J; Trégouët, David-Alexandre; Wiggins, Kerri L et al.

Ingår i Thrombosis Research, s. 426-432, 2014

• DOI för Influence of coronary artery disease-associated genetic variants on risk of venous thromboembolism

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

Arking, Dan E; Pulit, Sara L; Crotti, Lia; van der Harst, Pim et al.

Ingår i Nature Genetics, s. 826-836, 2014

• DOI för Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

Allelic expression mapping across cellular lineages to establish impact of non-coding SNPs

Adoue, Veronique; Schiavi, Alicia; Light, Nicholas; Carlsson Almlöf, Jonas et al.

Ingår i Molecular Systems Biology, s. 754, 2014

• DOI för Allelic expression mapping across cellular lineages to establish impact of non-coding SNPs
• Ladda ner fulltext (pdf) av Allelic expression mapping across cellular lineages to establish impact of non-coding SNPs

Single nucleotide polymorphisms with cis-regulatory effects on long non-coding transcripts in human primary monocytes

Almlöf, Jonas; Lundmark, Per; Lundmark, Anders; Ge, Bing et al.

Ingår i PLOS ONE, 2014

• DOI för Single nucleotide polymorphisms with cis-regulatory effects on long non-coding transcripts in human primary monocytes
• Ladda ner fulltext (pdf) av Single nucleotide polymorphisms with cis-regulatory effects on long non-coding transcripts in human primary monocytes

Genetic variation in the CYP2B6 Gene is related to circulating 2,2',4,4'-tetrabromodiphenyl ether (BDE-47) concentrations: an observational population-based study

Penell, Johanna; Lind, Lars; Fall, Tove; Syvänen, Ann-Christine et al.

Ingår i Environmental Health, s. 34, 2014

• DOI för Genetic variation in the CYP2B6 Gene is related to circulating 2,2',4,4'-tetrabromodiphenyl ether (BDE-47) concentrations: an observational population-based study
• Ladda ner fulltext (pdf) av Genetic variation in the CYP2B6 Gene is related to circulating 2,2',4,4'-tetrabromodiphenyl ether (BDE-47) concentrations: an observational population-based study

Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes

Madrigal, Irene; Isabel Alvarez-Mora, Maria; Karlberg, Olof; Rodriguez-Revenga, Laia et al.

Ingår i Journal of Clinical Pathology, s. 1099-1103, 2014

• DOI för Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes

Genetic variation in the CYP1A1 gene is related to circulating PCB118 levels in a population-based sample

Lind, Lars; Penell, Johanna; Syvänen, Ann-Christine; Axelsson, Tomas et al.

Ingår i Environmental Research, s. 135-140, 2014

• DOI för Genetic variation in the CYP1A1 gene is related to circulating PCB118 levels in a population-based sample

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

Mahajan, Anubha; Go, Min Jin; Zhang, Weihua; Below, Jennifer E et al.

Ingår i Nature Genetics, s. 234-244, 2014

• DOI för Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

Global DNA hypermethylation is associated with high serum levels of persistent organic pollutants in an elderly population

Lind, Lars; Penell, Johanna; Luttropp, Karin; Nordfors, Louise et al.

Ingår i Environment International, s. 456-461, 2013

• DOI för Global DNA hypermethylation is associated with high serum levels of persistent organic pollutants in an elderly population

Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories

't Hoen, Peter A C; Friedländer, Marc R; Almlöf, Jonas; Sammeth, Michael et al.

Ingår i Nature Biotechnology, s. 1015-1022, 2013

• DOI för Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories

Association of genes in the NF-κB pathway with antibody positive primary Sjögren's syndrome

Nordmark, Gunnel; Wang, Chuan; Vasaitis, Lilian; Eriksson, Per et al.

Ingår i Scandinavian Journal of Immunology, s. 447-454, 2013

• DOI för Association of genes in the NF-κB pathway with antibody positive primary Sjögren's syndrome

Transcriptome and genome sequencing uncovers functional variation in humans

Lappalainen, Tuuli; Sammeth, Michael; Friedländer, Marc R; 't Hoen, Peter A C et al.

Ingår i Nature, s. 506-511, 2013

• DOI för Transcriptome and genome sequencing uncovers functional variation in humans

Genetic variation in the dimethylarginine dimethylaminohydrolase 1 gene (DDAH1) is related to asymmetric dimethylarginine (ADMA) levels, but not to endothelium-dependent vasodilation

Lind, Lars; Ingelsson, Erik; Kumar, Jitender; Syvänen, Ann-Christine et al.

Ingår i Vascular Medicine, s. 192-199, 2013

• DOI för Genetic variation in the dimethylarginine dimethylaminohydrolase 1 gene (DDAH1) is related to asymmetric dimethylarginine (ADMA) levels, but not to endothelium-dependent vasodilation

Genome-wide signatures of differential DNA methylation in pediatric acute lymphoblastic leukemia

Nordlund, Jessica; Bäcklin, Christofer L; Wahlberg, Per; Busche, Stephan et al.

Ingår i Genome Biology, 2013

• DOI för Genome-wide signatures of differential DNA methylation in pediatric acute lymphoblastic leukemia

Accurate detection of subclonal single nucleotide variants in whole genome amplified and pooled cancer samples using HaloPlex target enrichment

Berglund, Eva C; Lindqvist, Carl Mårten; Hayat, Shahina; Overnäs, Elin et al.

Ingår i BMC Genomics, s. 856, 2013

• DOI för Accurate detection of subclonal single nucleotide variants in whole genome amplified and pooled cancer samples using HaloPlex target enrichment

Genes identified in Asian SLE GWASs are also associated with SLE in Caucasian populations

Wang, Chuan; Ahlford, Annika; Järvinen, Tiina M; Nordmark, Gunnel et al.

Ingår i European Journal of Human Genetics, s. 994-999, 2013

• DOI för Genes identified in Asian SLE GWASs are also associated with SLE in Caucasian populations

A gene-centric study of common carotid artery remodelling

Harrison, Seamus C.; Zabaneh, Delilah; Asselbergs, Folkert W.; Drenos, Fotios et al.

Ingår i Atherosclerosis, s. 440-446, 2013

• DOI för A gene-centric study of common carotid artery remodelling

Contribution of IKBKE and IFIH1 gene variants to SLE susceptibility

Wang, Chuan; Ahlford, Annika; Laxman, Navya; Nordmark, Gunnel et al.

Ingår i Genes and Immunity, s. 217-222, 2013

• DOI för Contribution of IKBKE and IFIH1 gene variants to SLE susceptibility
• Ladda ner fulltext (pdf) av Contribution of IKBKE and IFIH1 gene variants to SLE susceptibility

Are There Any Causal Relations Between Growth Differentiation Factor 15 and Outcomes in Patients With Acute Coronary Syndrome?: - A Report From the Plato Gwas Study

Hagström, Emil; Eriksson, Niclas; Johansson, Åsa; Bertilsson, Maria et al.

Ingår i Circulation, 2013

Genetic Variants from Lipid-Related Pathways and Risk for Incident Myocardial Infarction

Song, Ci; Pedersen, Nancy L.; Reynolds, Chandra A.; Sabater-Lleal, Maria et al.

Ingår i PLOS ONE, 2013

• DOI för Genetic Variants from Lipid-Related Pathways and Risk for Incident Myocardial Infarction
• Ladda ner fulltext (pdf) av Genetic Variants from Lipid-Related Pathways and Risk for Incident Myocardial Infarction

Association of STAT4 Polymorphism with Severe Renal Insufficiency in Lupus Nephritis

Bolin, Karin; Sandling, Johanna K; Zickert, Agneta; Jönsen, Andreas et al.

Ingår i PLOS ONE, 2013

• DOI för Association of STAT4 Polymorphism with Severe Renal Insufficiency in Lupus Nephritis
• Ladda ner fulltext (pdf) av Association of STAT4 Polymorphism with Severe Renal Insufficiency in Lupus Nephritis

Large-scale association analysis identifies new risk loci for coronary artery disease

Deloukas, Panos; Kanoni, Stavroula; Willenborg, Christina; Farrall, Martin et al.

Ingår i Nature Genetics, s. 25-33, 2013

• DOI för Large-scale association analysis identifies new risk loci for coronary artery disease

Genome-wide profiling of target genes for the systemic lupus erythematosus-associated transcription factors IRF5 and STAT4

Wang, Chuan; Sandling, Johanna K; Hagberg, Niklas; Berggren, Olof et al.

Ingår i Annals of the Rheumatic Diseases, s. 96-103, 2013

• DOI för Genome-wide profiling of target genes for the systemic lupus erythematosus-associated transcription factors IRF5 and STAT4

HLA-DRB1*04/*13 alleles are associated with vascular disease and antiphospholipid antibodies in systemic lupus erythematosus

Lundström, Emeli; Gustafsson, Johanna T; Jönsen, Andreas; Leonard, Dag et al.

Ingår i Annals of the Rheumatic Diseases, s. 1018-1025, 2013

• DOI för HLA-DRB1*04/*13 alleles are associated with vascular disease and antiphospholipid antibodies in systemic lupus erythematosus

Identification of a Functional Apolipoprotein E Promoter Polymorphism Regulating Plasma Apolipoprotein E Concentration

Nastase Mannila, Maria; Mahdessian, Hovsep; Franco-Cereceda, Anders; Eggertsen, Gösta et al.

Ingår i Arteriosclerosis, Thrombosis and Vascular Biology, s. 1063-1069, 2013

• DOI för Identification of a Functional Apolipoprotein E Promoter Polymorphism Regulating Plasma Apolipoprotein E Concentration

The Role of Adiposity in Cardiometabolic Traits: A Mendelian Randomization Analysis

Fall, Tove; Hägg, Sara; Maegi, Reedik; Ploner, Alexander et al.

Ingår i PLoS Medicine, 2013

• DOI för The Role of Adiposity in Cardiometabolic Traits: A Mendelian Randomization Analysis
• Ladda ner fulltext (pdf) av The Role of Adiposity in Cardiometabolic Traits: A Mendelian Randomization Analysis

Higher Magnesium Intake Is Associated with Lower Fasting Glucose and Insulin, with No Evidence of Interaction with Select Genetic Loci, in a Meta-Analysis of 15 CHARGE Consortium Studies

Hruby, Adela; Ngwa, Julius S.; Renstrom, Frida; Wojczynski, Mary K. et al.

Ingår i Journal of Nutrition, s. 345-353, 2013

• DOI för Higher Magnesium Intake Is Associated with Lower Fasting Glucose and Insulin, with No Evidence of Interaction with Select Genetic Loci, in a Meta-Analysis of 15 CHARGE Consortium Studies

Genetic Determinants of Dabigatran Plasma Levels and Their Relation to Bleeding

Paré, Guillaume; Eriksson, Niclas; Lehr, Thorsten; Connolly, Stuart et al.

Ingår i Circulation, s. 1404, 2013

• DOI för Genetic Determinants of Dabigatran Plasma Levels and Their Relation to Bleeding

Coronary heart disease in systemic lupus erythematosus is associated with interferon regulatory factor-8 gene variants

Leonard, Dag; Svenungsson, Elisabet; Sandling, Johanna K; Berggren, Olof et al.

Ingår i Circulation, s. 255-263, 2013

• DOI för Coronary heart disease in systemic lupus erythematosus is associated with interferon regulatory factor-8 gene variants

Variation in genes in the endothelin pathway and endothelium-dependent and endothelium-independent vasodilation in an elderly population

Lind, Lars; Syvänen, Ann-Christine; Axelsson, Tomas; Lundmark, Per et al.

Ingår i Acta Physiologica, s. 88-94, 2013

• DOI för Variation in genes in the endothelin pathway and endothelium-dependent and endothelium-independent vasodilation in an elderly population

SNP in TXNRD2 Associated With Radiation-Induced Fibrosis: A Study of Genetic Variation in Reactive Oxygen Species Metabolism and Signaling.

Edvardsen, Hege; Landmark-Høyvik, Hege; Reinertsen, Kristin V; Zhao, Xi et al.

Ingår i International journal of radiation oncology, biology, physics, s. 791-9, 2013

• DOI för SNP in TXNRD2 Associated With Radiation-Induced Fibrosis: A Study of Genetic Variation in Reactive Oxygen Species Metabolism and Signaling.

Association between genetic variants in the tumour necrosis factor/lymphotoxin α/lymphotoxin β locus and primary Sjogren's syndrome in Scandinavian samples

Bolstad, Anne Isine; Le Hellard, Stephanie; Kristjansdottir, Gudlaug; Vasaitis, Lilian et al.

Ingår i Annals of the Rheumatic Diseases, s. 981-988, 2012

• DOI för Association between genetic variants in the tumour necrosis factor/lymphotoxin α/lymphotoxin β locus and primary Sjogren's syndrome in Scandinavian samples

Association of STAT4, IRF5 and BLK polymorphisms with severity and outcome in lupus nephritis

Eriksson, Karin G.; Zickert, Agneta; Sandling, Johanna K.; Jonsen, Andreas et al.

Ingår i Annals of the Rheumatic Diseases, 2012

• DOI för Association of STAT4, IRF5 and BLK polymorphisms with severity and outcome in lupus nephritis

DNA Methylation Analysis of Bone Marrow Cells at Diagnosis of Acute Lymphoblastic Leukemia and at Remission

Nordlund, Jessica; Milani, Lili; Lundmark, Anders; Lönnerholm, Gudmar et al.

Ingår i PLOS ONE, 2012

• DOI för DNA Methylation Analysis of Bone Marrow Cells at Diagnosis of Acute Lymphoblastic Leukemia and at Remission
• Ladda ner fulltext (pdf) av DNA Methylation Analysis of Bone Marrow Cells at Diagnosis of Acute Lymphoblastic Leukemia and at Remission

Powerful Identification of Cis-regulatory SNPs in Human Primary Monocytes Using Allele-Specific Gene Expression

Almlöf, Jonas Carlsson; Lundmark, Per; Lundmark, Anders; Ge, B. et al.

Ingår i PLOS ONE, 2012

• DOI för Powerful Identification of Cis-regulatory SNPs in Human Primary Monocytes Using Allele-Specific Gene Expression
• Ladda ner fulltext (pdf) av Powerful Identification of Cis-regulatory SNPs in Human Primary Monocytes Using Allele-Specific Gene Expression

The DNA Methylation Landscape of Paediatric Acute Lymphoblastic Leukemia

Nordlund, Jessica; Backlin, Carin; Wahlberg, Per; Forestier, E. et al.

Ingår i European Journal of Cancer, 2012

• DOI för The DNA Methylation Landscape of Paediatric Acute Lymphoblastic Leukemia

Digital gene expression profiling of primary acute lymphoblastic leukemia cells

Nordlund, Jessica; Kiialainen, Anna; Karlberg, Olof; Berglund, Eva C et al.

Ingår i Leukemia, s. 1218-1227, 2012

• DOI för Digital gene expression profiling of primary acute lymphoblastic leukemia cells

Evidence of association between interferon regulatory factor 5 gene polymorphisms and asthma

Wang, Chuan; Rose-Zerilli, Matthew J; Koppelman, Gerard H; Sandling, Johanna K et al.

Ingår i Gene, s. 220-225, 2012

• DOI för Evidence of association between interferon regulatory factor 5 gene polymorphisms and asthma

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

Morris, Andrew P.; Voight, Benjamin F.; Teslovich, Tanya M.; Ferreira, Teresa et al.

Ingår i Nature Genetics, s. 981-+, 2012

• DOI för Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

The transcriptome of the adenovirus infected cell

Zhao, Hongxing; Dahlö, Martin; Isaksson, Anders; Syvänen, Ann-Christine et al.

Ingår i Virology, s. 115-128, 2012

• DOI för The transcriptome of the adenovirus infected cell

Common and Low-Frequency Genetic Variants in the PCSK9 Locus Influence Circulating PCSK9 Levels

Chernogubova, Ekaterina; Strawbridge, Rona; Mahdessian, Hovsep; Malarstig, Anders et al.

Ingår i Arteriosclerosis, Thrombosis and Vascular Biology, s. 1526-1534, 2012

• DOI för Common and Low-Frequency Genetic Variants in the PCSK9 Locus Influence Circulating PCSK9 Levels

Identification of the BCAR1-CFDP1-TMEM170A Locus as a Determinant of Carotid Intima-Media Thickness and Coronary Artery Disease Risk

Gertow, Karl; Sennblad, Bengt; Strawbridge, Rona J; Ohrvik, John et al.

Ingår i Circulation, s. 656-665, 2012

• DOI för Identification of the BCAR1-CFDP1-TMEM170A Locus as a Determinant of Carotid Intima-Media Thickness and Coronary Artery Disease Risk

A Genome-Wide Association Study of Monozygotic Twin-Pairs Suggests a Locus Related to Variability of Serum High-Density Lipoprotein Cholesterol

Surakka, Ida; Whitfield, John B; Perola, Markus; Visscher, Peter M et al.

Ingår i Twin Research and Human Genetics, s. 691-699, 2012

• DOI för A Genome-Wide Association Study of Monozygotic Twin-Pairs Suggests a Locus Related to Variability of Serum High-Density Lipoprotein Cholesterol

Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation

Huang, Jie; Sabater-Lleal, Maria; Asselbergs, Folkert W; Tregouet, David et al.

Ingår i Blood, s. 4873-81, 2012

• DOI för Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation

Long-range DNA looping and gene expression analyses identify DEXI as an autoimmune disease candidate gene

Davison, Lucy J; Wallace, Chris; Cooper, Jason D; Cope, Nathan F et al.

Ingår i Human Molecular Genetics, s. 322-333, 2012

• DOI för Long-range DNA looping and gene expression analyses identify DEXI as an autoimmune disease candidate gene

Novel Loci for Adiponectin Levels and Their Influence on Type 2 Diabetes and Metabolic Traits: A Multi-Ethnic Meta-Analysis of 45,891 Individuals

Dastani, Zari; Hivert, Marie-France; Timpson, Nicholas; Perry, John R. B. et al.

Ingår i PLOS Genetics, 2012

• DOI för Novel Loci for Adiponectin Levels and Their Influence on Type 2 Diabetes and Metabolic Traits: A Multi-Ethnic Meta-Analysis of 45,891 Individuals

A genome-wide association search for type 2 diabetes genes in African Americans.

Palmer, Nicholette D; McDonough, Caitrin W; Hicks, Pamela J; Roh, Bong H et al.

Ingår i PloS one, 2012

• DOI för A genome-wide association search for type 2 diabetes genes in African Americans.
• Ladda ner fulltext (pdf) av A genome-wide association search for type 2 diabetes genes in African Americans.

Preferential Association of Interferon Regulatory Factor 5 Gene Variants with Seronegative Rheumatoid Arthritis in 2 Swedish Case-Control Studies

Wang, Chuan; Kokkonen, Heidi; Sandling, Johanna K.; Johansson, Martin et al.

Ingår i Journal of Rheumatology, s. 2130-2132, 2011

• DOI för Preferential Association of Interferon Regulatory Factor 5 Gene Variants with Seronegative Rheumatoid Arthritis in 2 Swedish Case-Control Studies

Next generation sequencing technologies and applications for human Genetic History and Forensics

Berglund, Eva C; Kiialainen, Anna; Syvänen, Ann-Christine

Ingår i Investigative Genetics, s. 23, 2011

• DOI för Next generation sequencing technologies and applications for human Genetic History and Forensics

CUBN Is a Gene Locus for Albuminuria

Boeger, Carsten A.; Chen, Ming-Huei; Tin, Adrienne; Olden, Matthias et al.

Ingår i Journal of the American Society of Nephrology, s. 555-570, 2011

• DOI för CUBN Is a Gene Locus for Albuminuria

Fetal, Developmental, and Parental Influences on Cystatin C in Childhood: The Uppsala Family Study

Nitsch, Dorothea; Sandling, Johanna K.; Byberg, Liisa; Larsson, Anders et al.

Ingår i American Journal of Kidney Diseases, s. 863-872, 2011

• DOI för Fetal, Developmental, and Parental Influences on Cystatin C in Childhood: The Uppsala Family Study

Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile

Kilpelainen, Tuomas O.; Zillikens, M. Carola; Stancakova, Alena; Finucane, Francis M. et al.

Ingår i Nature Genetics, s. 753-U58, 2011

• DOI för Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile

Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sjögren's syndrome

Nordmark, Gunnel; Kristjansdottir, Gudlaug; Theander, E.; Appel, S. et al.

Ingår i Genes and Immunity, s. 100-109, 2011

• DOI för Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sjögren's syndrome

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

Sawcer, Stephen; Hellenthal, Garrett; Pirinen, Matti; Spencer, Chris C. A. et al.

Ingår i Nature, s. 214-219, 2011

• DOI för Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease

Peden, John F.; Hopewell, Jemma C.; Saleheen, Danish; Chambers, John C. et al.

Ingår i Nature Genetics, s. 339-344, 2011

• DOI för A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease

Performance of Microarray and Liquid Based Capture Methods for Target Enrichment for Massively Parallel Sequencing and SNP Discovery

Kiialainen, Anna; Karlberg, Olof; Ahlford, Annika; Sigurdsson, Snaevar et al.

Ingår i PLoS ONE, 2011

• DOI för Performance of Microarray and Liquid Based Capture Methods for Target Enrichment for Massively Parallel Sequencing and SNP Discovery

A candidate gene study of the type I interferon pathway implicates IKBKE and IL8 as risk loci for SLE

Sandling, Johanna K.; Garnier, Sophie; Sigurdsson, Snaevar; Wang, Chuan et al.

Ingår i European Journal of Human Genetics, s. 479-484, 2011

• DOI för A candidate gene study of the type I interferon pathway implicates IKBKE and IL8 as risk loci for SLE

Association between Common Variation at the FTO Locus and Changes in Body Mass Index from Infancy to Late Childhood: The Complex Nature of Genetic Association through Growth and Development

Sovio, Ulla; Mook-Kanamori, Dennis O.; Warrington, Nicole M.; Lawrence, Robert et al.

Ingår i PLoS Genetics, 2011

• DOI för Association between Common Variation at the FTO Locus and Changes in Body Mass Index from Infancy to Late Childhood: The Complex Nature of Genetic Association through Growth and Development

Salt-inducible kinase 1 influences Na+,K+-ATPase activity in vascular smooth muscle cells and associates with variations in blood pressure

Popov, Sergej; Silveira, Angela; Wågsäter, Dick; Takemori, Hiroshi et al.

Ingår i Journal of Hypertension, s. 2395-2403, 2011

• DOI för Salt-inducible kinase 1 influences Na+,K+-ATPase activity in vascular smooth muscle cells and associates with variations in blood pressure

Genome-Wide Association Identifies Nine Common Variants Associated With Fasting Proinsulin Levels and Provides New Insights Into the Pathophysiology of Type 2 Diabetes

Strawbridge, Rona J.; Dupuis, Josee; Prokopenko, Inga; Barker, Adam et al.

Ingår i Diabetes, s. 2624-2634, 2011

• DOI för Genome-Wide Association Identifies Nine Common Variants Associated With Fasting Proinsulin Levels and Provides New Insights Into the Pathophysiology of Type 2 Diabetes

Total zinc intake may modify the glucose-raising effect of a zinc transporter (SLC30A8) variant: a 14-cohort meta-analysis

Kanoni, Stavroula; Nettleton, Jennifer A.; Hivert, Marie-France; Ye, Zheng et al.

Ingår i Diabetes, s. 2407-2416, 2011

• DOI för Total zinc intake may modify the glucose-raising effect of a zinc transporter (SLC30A8) variant: a 14-cohort meta-analysis

Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with Systemic Lupus Erythematosus

Cunninghame Graham, Deborah S; Morris, David L; Bhangale, Tushar R; Criswell, Lindsey A et al.

Ingår i PLoS genetics, 2011

• DOI för Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with Systemic Lupus Erythematosus

First generation microarray-system for identification of primate species subject to bushmeat trade

Rönn, Ann-Charlotte; Andrés, Olga; López-Giráldez, Franscesc; Johnsson-Glans, Cecilia et al.

Ingår i Endangered Species Research, s. 133-142, 2010

• DOI för First generation microarray-system for identification of primate species subject to bushmeat trade

Coffee consumption and CYP1A2 genotype in relation to bone mineral density of the proximal femur in elderly men and women: a cohort study

Hallström, Helena; Melhus, Håkan; Glynn, Anders; Lind, Lars et al.

Ingår i Nutrition & Metabolism, s. 12, 2010

• DOI för Coffee consumption and CYP1A2 genotype in relation to bone mineral density of the proximal femur in elderly men and women: a cohort study
• Ladda ner fulltext (pdf) av Coffee consumption and CYP1A2 genotype in relation to bone mineral density of the proximal femur in elderly men and women: a cohort study

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

Heid, Iris M; Jackson, Anne U; Randall, Joshua C; Winkler, Thomas W et al.

Ingår i Nature Genetics, s. 949-960, 2010

• DOI för Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

Niemann-Pick C1 modulates hepatic triglyceride metabolism and its genetic variation contributes to serum triglyceride levels

Uronen, Riikka-Liisa; Lundmark, Per; Orho-Melander, Marju; Jauhiainen, Matti et al.

Ingår i Arteriosclerosis, Thrombosis and Vascular Biology, s. 1614-1620, 2010

• DOI för Niemann-Pick C1 modulates hepatic triglyceride metabolism and its genetic variation contributes to serum triglyceride levels

Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans

Ingelsson, Erik; Langenberg, Claudia; Hivert, Marie-France; Prokopenko, Inga et al.

Ingår i Diabetes, s. 1266-1275, 2010

• DOI för Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans

Dried reagents for multiplex genotyping by tag-array minisequencing to be used in microfluidic devices

Ahlford, Annika; Kjeldsen, Bastian; Reimers, Jakob; Lundmark, Anders et al.

Ingår i The Analyst, s. 2377-2385, 2010

• DOI för Dried reagents for multiplex genotyping by tag-array minisequencing to be used in microfluidic devices

Genetic variation in the ddah-1 gene in relation to adma levels and endothelial function

Granroth, Sofie; Syvänen, Ann-Christine; Lind, Lars; Kurland, L.

Ingår i Journal of Hypertension, 2010

• DOI för Genetic variation in the ddah-1 gene in relation to adma levels and endothelial function

DNA methylation for subtype classification and prediction of treatment outcome in patients with childhood acute lymphoblastic leukemia

Milani, Lili; Lundmark, Anders; Kiialainen, Anna; Nordlund, Jessica et al.

Ingår i Blood, s. 1214-1225, 2010

• DOI för DNA methylation for subtype classification and prediction of treatment outcome in patients with childhood acute lymphoblastic leukemia

Genetic variants and disease-associated factors contribute to enhanced interferon regulatory factor 5 expression in blood cells of patients with systemic lupus erythematosus

Feng, Di; Stone, Rivka C.; Eloranta, Maija-Leena; Sangster-Guity, Niquiche et al.

Ingår i Arthritis and Rheumatism, s. 562-573, 2010

• DOI för Genetic variants and disease-associated factors contribute to enhanced interferon regulatory factor 5 expression in blood cells of patients with systemic lupus erythematosus

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

Dupuis, Josée; Langenberg, Claudia; Prokopenko, Inga; Saxena, Richa et al.

Ingår i Nature Genetics, s. 105-116, 2010

• DOI för New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

Genetic risk factors in lupus nephritis and IgA nephropathy: no support of an overlap

Vuong, Mai Tuyet; Gunnarsson, Iva; Lundberg, Sigrid; Svenungsson, Elisabet et al.

Ingår i PLOS ONE, 2010

• DOI för Genetic risk factors in lupus nephritis and IgA nephropathy: no support of an overlap

Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge

Saxena, Richa; Hivert, Marie-France; Langenberg, Claudia; Tanaka, Toshiko et al.

Ingår i Nature Genetics, s. 142-148, 2010

• DOI för Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge

Association of genetic risk variants with expression of proximal genes identifies novel susceptibility genes for cardiovascular disease

Folkersen, Lasse; van't Hooft, Ferdinand; Chernogubova, Ekaterina; Agardh, Hanna E. et al.

Ingår i Circulation, s. 365-373, 2010

• DOI för Association of genetic risk variants with expression of proximal genes identifies novel susceptibility genes for cardiovascular disease

SNPs in genes coding for ROS metabolism and signalling in association with docetaxel clearance

Edvardsen, H.; Brunsvig, P F.; Solvang, H.; Tsalenko, A. et al.

Ingår i The Pharmacogenomics Journal, s. 513-523, 2010

• DOI för SNPs in genes coding for ROS metabolism and signalling in association with docetaxel clearance

Variation in STAT4 is associated with systemic lupus erythematosus in a Finnish family cohort

Hellquist, Anna; Sandling, Johanna K.; Zucchelli, Marco; Koskenmies, Sari et al.

Ingår i Annals of the Rheumatic Diseases, s. 883-886, 2010

• DOI för Variation in STAT4 is associated with systemic lupus erythematosus in a Finnish family cohort

A STAT4 risk allele is associated with ischaemic cerebrovascular events and anti-phospholipid antibodies in systemic lupus erythematosus

Svenungsson, Elisabet; Gustafsson, Johanna; Leonard, Dag; Sandling, Johanna et al.

Ingår i Annals of the Rheumatic Diseases, s. 834-840, 2010

• DOI för A STAT4 risk allele is associated with ischaemic cerebrovascular events and anti-phospholipid antibodies in systemic lupus erythematosus

Genetic analysis of an F2 intercross between two chicken lines divergently selected for body-weight

Wahlberg, Per; Carlborg, Örjan; Foglio, Mario; Tordoir, Xavier et al.

Ingår i BMC Genomics, s. 248, 2009

• DOI för Genetic analysis of an F2 intercross between two chicken lines divergently selected for body-weight

Genetic analysis of Alzheimer's disease in the Uppsala Longitudinal Study of Adult Men

Giedraitis, Vilmantas; Kilander, Lena; Degerman-Gunnarsson, Malin; Sundelöf, Johan et al.

Ingår i Dementia and Geriatric Cognitive Disorders, s. 59-68, 2009

• DOI för Genetic analysis of Alzheimer's disease in the Uppsala Longitudinal Study of Adult Men

Geographical structure and differential natural selection among North European populations

McEvoy, Brian P.; Montgomery, W; McRae, F; Ripatti, Samuli et al.

Ingår i Genome Research, s. 804-814, 2009

• DOI för Geographical structure and differential natural selection among North European populations

Allele-specific gene expression patterns in primary leukemic cells reveal regulation of gene expression by CpG site methylation

Milani, Lili; Lundmark, Anders; Nordlund, Jessica; Kiialainen, Anna et al.

Ingår i Genome Research, s. 1-11, 2009

• DOI för Allele-specific gene expression patterns in primary leukemic cells reveal regulation of gene expression by CpG site methylation

Allele-specific expression and gene methylation in the control of CYP1A2 mRNA level in human livers

Ghotbi, Roza; Gomez, Alvin; Milani, Lili; Tybring, Gunnel et al.

Ingår i The Pharmacogenomics Journal, s. 208-217, 2009

• DOI för Allele-specific expression and gene methylation in the control of CYP1A2 mRNA level in human livers

Additive effects of the major risk alleles of IRF5 and STAT4 in primary Sjögren's syndrome

Nordmark, Gunnel; Kristjansdottir, Gudlaug; Theander, E.; Eriksson, P. et al.

Ingår i Genes and Immunity, s. 68-76, 2009

• DOI för Additive effects of the major risk alleles of IRF5 and STAT4 in primary Sjögren's syndrome

Genome-wide association study identifies eight loci associated with blood pressure

Newton-Cheh, Christopher; Johnson, Toby; Gateva, Vesela; Tobin, D et al.

Ingår i Nature Genetics, s. 666-676, 2009

• DOI för Genome-wide association study identifies eight loci associated with blood pressure

A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus

Gateva, Vesela; Sandling, Johanna K.; Hom, Geoff; Taylor, Kimberly E. et al.

Ingår i Nature Genetics, s. 1228-1233, 2009

• DOI för A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus

Genetic variations in sex steroid-related genes as predictors of serum estrogen levels in men

Eriksson, Anna L.; Lorentzon, Mattias; Vandenput, Liesbeth; Labrie, Fernand et al.

Ingår i Journal of Clinical Endocrinology and Metabolism, s. 1033-1041, 2009

• DOI för Genetic variations in sex steroid-related genes as predictors of serum estrogen levels in men

Estrogen receptor alpha gene polymorphism and endometrial cancer risk: a case-control study

Wedrén, Sara; Lovmar, Lovisa; Humphreys, Keith; Magnusson, Cecilia et al.

Ingår i BMC Cancer, s. 322, 2008

• DOI för Estrogen receptor alpha gene polymorphism and endometrial cancer risk: a case-control study

The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population

Christensen, Lise Lotte; Madsen, Bo E.; Wikman, Friedrik P.; Wiuf, Carsten et al.

Ingår i BMC Medical Genetics, s. 52, 2008

• DOI för The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population

Interferon Regulatory Factor 5 (IRF5) Gene Variants are Associated with Multiple Sclerosis in Three Distinct Populations

Kristjansdottir, Gudlaug; Sandling, Johanna K; Bonetti, Alessandro; Roos, Izaura M et al.

Ingår i Journal of Medical Genetics, s. 362-369, 2008

• DOI för Interferon Regulatory Factor 5 (IRF5) Gene Variants are Associated with Multiple Sclerosis in Three Distinct Populations

USF1 gene variants contribute to metabolic traits in men in a longitudinal 32-year follow-up study

Auro, K.; Kristiansson, K.; Zethelius, Björn; Berne, Christian et al.

Ingår i Diabetologia, s. 464-472, 2008

• DOI för USF1 gene variants contribute to metabolic traits in men in a longitudinal 32-year follow-up study

Polymorphisms in the estrogen receptor alpha gene and endothelial function in resistance and conduit arteries in the elderly

Ingelsson, Erik; Syvänen, Ann-Christine; Lind, Lars

Ingår i Atherosclerosis, s. 162-171, 2008

• DOI för Polymorphisms in the estrogen receptor alpha gene and endothelial function in resistance and conduit arteries in the elderly

The relationship between the plasma concentration of irbesartan and the antihypertensive response is disclosed by an angiotensin II type 1 receptor polymorphism: results from the Swedish Irbesartan Left Ventricular Hypertrophy Investigation vs. Atenolol (SILVHIA) Trial

Kurland, Lisa; Hallberg, Pär; Melhus, Håkan; Liljedahl, Ulrika et al.

Ingår i American Journal of Hypertension, s. 836-839, 2008

• DOI för The relationship between the plasma concentration of irbesartan and the antihypertensive response is disclosed by an angiotensin II type 1 receptor polymorphism: results from the Swedish Irbesartan Left Ventricular Hypertrophy Investigation vs. Atenolol (SILVHIA) Trial

Association of the estrogen receptor 1 (ESR1) gene with body height in adult males from two Swedish population cohorts

Dahlgren, Andreas; Lundmark, Per; Axelsson, Tomas; Lind, Lars et al.

Ingår i PLOS ONE, 2008

• DOI för Association of the estrogen receptor 1 (ESR1) gene with body height in adult males from two Swedish population cohorts

Positional cloning by fast-track SNP-mapping in Drosophila melanogaster

Schnorrer, Frank; Ahlford, Annika; Chen, Doris; Milani, Lili et al.

Ingår i Nature Protocols, s. 1751-1765, 2008

• DOI för Positional cloning by fast-track SNP-mapping in Drosophila melanogaster

Endothelium-dependent vasodilation in conduit and resistance vessels in relation to the endothelial nitric oxide synthase gene

Ingelsson, Erik; Syvänen, Ann-Christine; Lind, Lars

Ingår i Journal of Human Hypertension, s. 569-578, 2008

• DOI för Endothelium-dependent vasodilation in conduit and resistance vessels in relation to the endothelial nitric oxide synthase gene

A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5

Sigurdsson, Snaevar; Nordmark, Gunnel; Garnier, Sophie; Grundberg, Elin et al.

Ingår i Human Molecular Genetics, s. 2868-2876, 2008

• DOI för A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5

Expression of BCR-ABL1 oncogene relative to ABL1 gene changes overtime in chronic myeloid leukemia

Gupta, Manu; Milani, Lili; Hermansson, Monica; Simonsson, Bengt et al.

Ingår i Biochemical and Biophysical Research Communications - BBRC, s. 848-851, 2008

• DOI för Expression of BCR-ABL1 oncogene relative to ABL1 gene changes overtime in chronic myeloid leukemia

Evaluation of HapMap data in six populations of European descent

Lundmark, Per E; Liljedahl, Ulrika; Boomsma, Dorret I; Mannila, Heikki et al.

Ingår i European Journal of Human Genetics, s. 1142-1150, 2008

• DOI för Evaluation of HapMap data in six populations of European descent

Comprehensive evaluation of the genetic variants of interferon regulatory factor 5 (IRF5) reveals a novel 5 bp length polymorphism as strong risk factor for systemic lupus erythematosus

Sigurdsson, Snaevar; Göring, Harald H. H.; Kristjansdottir, Gudlaug; Milani, Lili et al.

Ingår i Human Molecular Genetics, s. 872-881, 2008

• DOI för Comprehensive evaluation of the genetic variants of interferon regulatory factor 5 (IRF5) reveals a novel 5 bp length polymorphism as strong risk factor for systemic lupus erythematosus

Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX

Hom, Geoffrey; Graham, Robert R; Modrek, Barmak; Taylor, Kimberly E et al.

Ingår i New England Journal of Medicine, s. 900-909, 2008

• DOI för Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX

High-resolution, high-throughput SNP mapping in Drosophila melanogaster

Chen, Doris; Ahlford, Annika; Schnorrer, Frank; Kalchhauser, Irene et al.

Ingår i Nature Methods, s. 323-329, 2008

• DOI för High-resolution, high-throughput SNP mapping in Drosophila melanogaster

Investigation of the fine structure of European populations with applications to disease association studies

Heath, Simon C.; Gut, Ivo G.; Brennan, Paul; McKay, James D. et al.

Ingår i European Journal of Human Genetics, s. 1413-1429, 2008

• DOI för Investigation of the fine structure of European populations with applications to disease association studies

A microarray system for Y chromosomal and mitochondrial single nucleotide polymorphism analysis in chimpanzee populations

Andres, Olga; Rönn, Ann-Charlotte; Bonhomme, Maxime; Keller-Mann, Thomas et al.

Ingår i Molecular Ecology Notes, s. 529-539, 2008

• DOI för A microarray system for Y chromosomal and mitochondrial single nucleotide polymorphism analysis in chimpanzee populations

Variants of the interferon regulatory factor 5 gene regulate expression of IRF5 mRNA in atherosclerotic tissue but are not associated with myocardial infarction

Mälarstig, Anders; Sigurdsson, Snaevar; Eriksson, Per; Paulsson-Berne, Gabrielle et al.

Ingår i Arteriosclerosis, Thrombosis and Vascular Biology, s. 975-982, 2008

• DOI för Variants of the interferon regulatory factor 5 gene regulate expression of IRF5 mRNA in atherosclerotic tissue but are not associated with myocardial infarction

Genome-wide analysis identifies 16q deletion associated with survival, molecular subtypes, mRNA expression, and germline haplotypes in breast cancer patients

Nordgard, Silje H; Johansen, Fredrik E; Alnæs, Grethe I G; Bucher, Elmar et al.

Ingår i Genes, Chromosomes and Cancer, s. 680-696, 2008

• DOI för Genome-wide analysis identifies 16q deletion associated with survival, molecular subtypes, mRNA expression, and germline haplotypes in breast cancer patients

Screening for copy-number alterations and loss of heterozygosity in chronic lymphocytic leukemia-A comparative study of four differently designed, high resolution microarray platforms

Gunnarsson, Rebeqa; Staaf, Johan; Jansson, Mattias; Ottesen, Anne Marie et al.

Ingår i Genes, Chromosomes and Cancer, s. 697-711, 2008

• DOI för Screening for copy-number alterations and loss of heterozygosity in chronic lymphocytic leukemia-A comparative study of four differently designed, high resolution microarray platforms

Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells

Milani, Lili; Gupta, Manu; Andersen, M.; Dhar, Sumeer et al.

Ingår i Nucleic Acids Research, 2007

• DOI för Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells

An insertion-deletion polymorphism in the Interferon Regulatory Factor 5 (IRF5) gene confers risk of inflammatory bowel diseases

Dideberg, Vinciane; Kristjansdottir, Gudlaug; Milani, Lili; Libioulle, C. et al.

Ingår i Human Molecular Genetics, s. 3008-3016, 2007

• DOI för An insertion-deletion polymorphism in the Interferon Regulatory Factor 5 (IRF5) gene confers risk of inflammatory bowel diseases

Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus

Graham, R. Robert; Kyogoku, Chieko; Sigurdsson, Snaevar; Vlasova, Irina A. et al.

Ingår i Proceedings of the National Academy of Sciences of the United States of America, s. 6758-6763, 2007

• DOI för Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus

Variants of the TCF7L2 gene are associated with beta cell dysfunction and confer an increased risk of type 2 diabetes mellitus in the ULSAM cohort of Swedish elderly men

Dahlgren, Andreas; Zethelius, Björn; Jensevik, Karin; Syvänen, Ann-Christine et al.

Ingår i Diabetologia, s. 1852-1857, 2007

• DOI för Variants of the TCF7L2 gene are associated with beta cell dysfunction and confer an increased risk of type 2 diabetes mellitus in the ULSAM cohort of Swedish elderly men

Association of a Haplotype in the Promoter Region of the Interferon Regulatory Factor 5 Gene With Rheumatoid Arthritis

Sigurdsson, Snaevar; Padyukov, Leonid; Kurreeman, Fina A.S.; Liljedahl, Ulrika et al.

Ingår i Arthritis and Rheumatism, s. 2202-2210, 2007

• DOI för Association of a Haplotype in the Promoter Region of the Interferon Regulatory Factor 5 Gene With Rheumatoid Arthritis

Polymorphisms in the SCD1 gene: associations with body fat distribution and insulin sensitivity

Warensjö, Eva; Ingelsson, Erik; Lundmark, Per; Lannfelt, Lars et al.

Ingår i Obesity, s. 1732-1740, 2007

• DOI för Polymorphisms in the SCD1 gene: associations with body fat distribution and insulin sensitivity

Apolipoprotein E epsilon 4 genotype is independently associated with increased intima-media thickness in a recessive pattern

Wohlin, Martin; Sundström, Johan; Lannfelt, Lars; Axelsson, Tomas et al.

Ingår i Lipids, s. 451-456, 2007

• DOI för Apolipoprotein E epsilon 4 genotype is independently associated with increased intima-media thickness in a recessive pattern

Multiple displacement amplification for generating an unlimited source of DNA for genotyping in nonhuman primate species

Rönn, Ann-Charlotte; Andrés, Olga; Bruford, Michael W.; Crouau-Roy, Brigitte et al.

Ingår i International journal of primatology, s. 1145-1169, 2006

• DOI för Multiple displacement amplification for generating an unlimited source of DNA for genotyping in nonhuman primate species

A quality assessment survey of SNP genotyping laboratories

Lahermo, P; Liljedahl, Ulrika; Alnaes, Grethe; Axelsson, Tomas et al.

Ingår i Human Mutation, s. 711-714, 2006

• DOI för A quality assessment survey of SNP genotyping laboratories

Genetic variation in putative regulatory loci controlling gene expression in breast cancer

Kristensen, Vessela N; Edvardsen, Hege; Tsalenko, Anya; Nordgard, Silje H et al.

Ingår i Proceedings of the National Academy of Sciences of the United States of America, s. 7735-7740, 2006

• DOI för Genetic variation in putative regulatory loci controlling gene expression in breast cancer

A microarray system for genotyping 150 single nucleotide polymorphisms in the coding region of human mitochondrial DNA

Sigurdsson, Snaevar; Hedman, Minttu; Sistonen, Pertti; Sajantila, Antti et al.

Ingår i Genomics, s. 534-542, 2006

• DOI för A microarray system for genotyping 150 single nucleotide polymorphisms in the coding region of human mitochondrial DNA

Experimental validation of data mined single nucleotide polymorphisms from several databases and consecutive dbSNP builds

Edvardsen, Hege; Alaes, Grethe Irene Grenaker; Tsalenko, Anya; Mulcahy, Tanya et al.

Ingår i Pharmacogenetics & Genomics, s. 207-217, 2006

• DOI för Experimental validation of data mined single nucleotide polymorphisms from several databases and consecutive dbSNP builds

Multiple displacement amplification to create a long-lasting source of DNA for genetic studies.

Lovmar, Lovisa; Syvänen, Ann-Christine

Ingår i Hum Mutat, s. 603-14, 2006

Silhouette scores for assessment of SNP genotype clusters

Lovmar, Lovisa; Ahlford, Annika; Jonsson, Mats; Syvänen, Ann-Christine

Ingår i BMC Genomics, 2005

• DOI för Silhouette scores for assessment of SNP genotype clusters
• Ladda ner fulltext (pdf) av Silhouette scores for assessment of SNP genotype clusters

Genetic regulation of birth weight and fasting glucose by a common polymorphism in the islet cell promoter of the glucokinase gene.

Weedon, Michael N; Frayling, Timothy M; Shields, Beverley; Knight, Beatrice et al.

Ingår i Diabetes, s. 576-81, 2005

Genetic variations in the tissue factor gene are associated with clinical outcome in acute coronary syndrome and expression levels in human monocytes

Mälarstig, Anders; Tenno, Taavo; Johnston, Nina; Lagerqvist, Bo et al.

Ingår i Arteriosclerosis, Thrombosis and Vascular Biology, s. 2667-2672, 2005

• DOI för Genetic variations in the tissue factor gene are associated with clinical outcome in acute coronary syndrome and expression levels in human monocytes

Polymorphisms in the Tyrosine Kinase 2 and Interferon Regulatory Factor 5 Genes Are Associated with Systemic Lupus Erythematosus

Sigurdsson, Snaevar; Nordmark, Gunnel; Göring, Harald; Lindroos, Katarina et al.

Ingår i American Journal of Human Genetics, s. 528-537, 2005

• DOI för Polymorphisms in the Tyrosine Kinase 2 and Interferon Regulatory Factor 5 Genes Are Associated with Systemic Lupus Erythematosus

Toward genome-wide SNP genotyping

Syvänen, Ann-Christine

Ingår i Nature Genetics, 2005

• DOI för Toward genome-wide SNP genotyping

Detecting imbalanced expression of SNP alleles by minisequencing on microarrays

Liljedahl, Ulrika; Fredriksson, Mona; Dahlgren, Andreas; Syvänen, Ann-Christine

Ingår i BMC Biotechnology, s. 1-10, 2004

• DOI för Detecting imbalanced expression of SNP alleles by minisequencing on microarrays
• Ladda ner fulltext (pdf) av Detecting imbalanced expression of SNP alleles by minisequencing on microarrays

Gender-specific association between preproendothelin-1 genotype and reduction of systolic blood pressure during antihypertensive treatment: results from the Swedish Irbesartan Left Ventricular Hypertrophy Investigation versus Atenolol (SILVHIA)

Hallberg, Pär; Karlsson, J.; Lind, Lars; Michaëlsson, Karl et al.

Ingår i Clinical Cardiology, s. 287-290, 2004

• DOI för Gender-specific association between preproendothelin-1 genotype and reduction of systolic blood pressure during antihypertensive treatment: results from the Swedish Irbesartan Left Ventricular Hypertrophy Investigation versus Atenolol (SILVHIA)

Oestrogen receptor alpha gene haplotype and postmenopausal breast cancer risk: a case control study

Wedrén, Sara; Lovmar, Lovisa; Humphreys, Keith; Magnusson, Cecilia et al.

Ingår i Breast Cancer Research, 2004

• DOI för Oestrogen receptor alpha gene haplotype and postmenopausal breast cancer risk: a case control study

Single nucleotide polymorphisms in the apolipoprotein B and low density lipoprotein receptor genes affect response to antihypertensive treatment

Liljedahl, Ulrika; Lind, Lars; Kurland, Lisa; Berglund, Lars et al.

Ingår i BMC Cardiovascular Disorders, s. 16, 2004

• DOI för Single nucleotide polymorphisms in the apolipoprotein B and low density lipoprotein receptor genes affect response to antihypertensive treatment

Approaches for analyzing human mutations and nucleotide sequence variation: a report from the Seventh International Mutation Detection meeting, 2003

Syvänen, Ann-Christine; Taylor, Graham R

Ingår i Human Mutation, s. 401-405, 2004

• DOI för Approaches for analyzing human mutations and nucleotide sequence variation: a report from the Seventh International Mutation Detection meeting, 2003

Angiotensinogen gene polymorphisms: relationship to blood pressure response to antihypertensive treatment. Results from the Swedish Irbesartan Left Ventricular Hypertrophy Investigation vs Atenolol (SILVHIA) trial

Kurland, Lisa; Liljedahl, Ulrika; Karlsson, Julia; Kahan, Thomas et al.

Ingår i American Journal of Hypertension, s. 8-13, 2004

• DOI för Angiotensinogen gene polymorphisms: relationship to blood pressure response to antihypertensive treatment. Results from the Swedish Irbesartan Left Ventricular Hypertrophy Investigation vs Atenolol (SILVHIA) trial

Assessing hematopoietic chimerism after allogeneic stem cell transplantation by multiplexed SNP genotyping using microarrays and quantitative analysis of SNP alleles

Fredriksson, Mona; Barbany, Gisela; Liljedahl, Ulrika; Hermanson, Monika et al.

Ingår i Leukemia, s. 255-266, 2004

• DOI för Assessing hematopoietic chimerism after allogeneic stem cell transplantation by multiplexed SNP genotyping using microarrays and quantitative analysis of SNP alleles

Assessing hematopoietic chimerism after stem cell transplantation by multiplexed SNP genotyping using microarrays and quantitative analysis of SNP alleles

Fredriksson, Mona; Barbany, Gisela; Liljedahl, Ulrika; Hermanson, Monica et al.

Ingår i Leukemia, s. 255-266, 2004

• DOI för Assessing hematopoietic chimerism after stem cell transplantation by multiplexed SNP genotyping using microarrays and quantitative analysis of SNP alleles

Single nucleotide polymorphisms predict the change in left ventricular mass in response to antihypertensive treatment

Liljedahl, Ulrika; Kahan, Thomas; Malmqvist, Karin; Melhus, Håkan et al.

Ingår i Journal of Hypertension, s. 2321-8, 2004

Adipocyte-derived leucine aminopeptidase genotype and response to antihypertensive therapy

Hallberg, Pär; Lind, Lars; Michaëlsson, Karl; Kurland, Lisa et al.

Ingår i BMC Cardiovascular Disorders, s. 11, 2003

• DOI för Adipocyte-derived leucine aminopeptidase genotype and response to antihypertensive therapy

Genotyping SNPs by minisequencing primer extension using oligonucleotide microarrays

Lindroos, Katarina; Liljedahl, Ulrika; Syvänen, Ann-Christine

Ingår i Methods in Molecular Biology, s. 149-165, 2003

• DOI för Genotyping SNPs by minisequencing primer extension using oligonucleotide microarrays

A microarray minisequencing system for pharmacogenetic profiling of antihypertensive drug response

Liljedahl, Ulrika; Karlsson, Julia; Melhus, Håkan; Kurland, Lisa et al.

Ingår i Pharmacogenetics, s. 7-17, 2003

Microarrays for genotyping human group A rotavirus by multiplex capture and type-specific primer extension

Lovmar, Lovisa; Fock, Caroline; Espinoza, Felix; Bucardo, Filemon et al.

Ingår i Journal of Clinical Microbiology, s. 5153-5158, 2003

• DOI för Microarrays for genotyping human group A rotavirus by multiplex capture and type-specific primer extension

Quantitative evaluation by minisequencing and microarrays reveals accurate multiplexed SNP genotyping of whole genome amplified DNA

Lovmar, Lovisa; Fredriksson, Mona; Liljedahl, Ulrika; Sigurdsson, Snaevar et al.

Ingår i Nucleic Acids Research, 2003

• DOI för Quantitative evaluation by minisequencing and microarrays reveals accurate multiplexed SNP genotyping of whole genome amplified DNA

Farmakogenetik: genvägen till skräddarsydd antihypertensiv terapi

Kurland, Lisa; Lind, Lars; Lithell, Hans; Syvänen, Ann-Christine et al.

Ingår i Läkartidningen, s. 600-603, 2003

Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease

Blom, Titta S; Linder, Matts D; Snow, Karen; Pihko, Helena et al.

Ingår i Human Molecular Genetics, s. 257-272, 2003

• DOI för Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease

Sex chromosome evolution and speciation in Ficedula flycatchers

Sætre, Glenn-Peter; Borge, Thomas; Lindroos, Katarina; Haavie, Jon et al.

Ingår i Proceedings of the Royal Society of London. Biological Sciences, s. 53-59, 2003

• DOI för Sex chromosome evolution and speciation in Ficedula flycatchers

Sex chromosome evolution and speciation in Ficedula flycatchers

Saetre, Glenn-Peter; Borge, Thomas; Lindroos, Katarina; Haavie, Jon et al.

Ingår i Proceedings of the Royal Society of London: Biological Sciences, s. 53-59, 2003

Quantitative evaluation by minisequencing and microarrays reveals accurate multiplexed SNP genotyping of whole genome amplified DNA.

Lovmar, Lovisa; Fredriksson, Mona; Liljedahl, Ulrika; Sigurdsson, Snaevar et al.

Ingår i Nucleic Acids Res, 2003

Microarrays for genotyping human group a rotavirus by multiplex capture and

Lovmar, Lovisa; Fock, Caroline; Espinoza, Felix; Bucardo, Filemon et al.

Ingår i J Clin Microbiol, s. 5153-8, 2003

Multiplex SNP genotyping in pooled DNA samples by a four-colour microarray system

Lindroos, Katarina; Sigurdsson, Snaevar; Johansson, Karin; Rönnblom, Lars et al.

Ingår i Nucleic Acids Research, 2002

• DOI för Multiplex SNP genotyping in pooled DNA samples by a four-colour microarray system

DNA sandwiches with silver and gold

Syvänen, Ann-Christine; Söderlund, Hans

Ingår i Nature Biotechnology, s. 349-350, 2002

• DOI för DNA sandwiches with silver and gold

Unexpectedly High Allelic Diversity at the KIT Locus Causing DominantWhite Color in the Domestic Pig

Pielberg, Gerli; Olsson, Christian; Syvänen, Ann-Christine; Andersson, L

Ingår i Genetics, s. 305-311, 2002

Y-chromosomal SNPs in Finno-Ugric-speaking populations analyzed by minisequencing on microarrays

Raitio, Mirja; Lindroos, Katarina; Laukkanen, Minna; Pastinen, Tomi et al.

Ingår i Genome Research, s. 471-482, 2001

• DOI för Y-chromosomal SNPs in Finno-Ugric-speaking populations analyzed by minisequencing on microarrays

Minisequencing on oligonucleotide microarrays: comparison of immobilisation chemistries

Lindroos, Katarina; Liljedahl, Ulrika; Raitio, Mirja; Syvänen, Ann-Christine

Ingår i Nucleic Acids Research, 2001

Minisequencing on oligonucleotide microarrays: comparison of immobilisation chemistries

Lindroos, Katarina; Liljedahl, Ulrika; Raitio, Mirja; Syvänen, Ann-Christine

Ingår i Nucleic Acids Research, 2001

Homogeneous scoring of single nucleotide polymorphisms: The 5’-nuclease ”TaqMan” assay versus Molecular beacon probes

Täpp, Ida; Malmberg, Lovisa; Rennel, Emma; Majstin, Wik et al.

Ingår i BioTechniques, s. 732-738, 2000

Determination of the frequencies of ten allelic variants of the Wilson disease gene (ATP7B), in pooled DNA samples

Olsson, Charlotta; Waldenström, Erik; Westermark, Kerstin; Landegren, Ulf et al.

Ingår i European Journal of Human Genetics, s. 933-938, 2000

A system for specific, high-throughput genotyping by allele-specific primer extension on microarrays

Pastinen, Tomi; Raitio, Mirja; Lindroos, Katarina; Tainola, Päivi et al.

Ingår i Genome Research, s. 1031-1042, 2000

From gels to chips: "Minisequencing" primer extension for analysis of point mutations and single nucleotide polymorphisms

Syvänen, Ann-Christine

Ingår i Human Mutation, s. 1-10, 1999

• DOI för From gels to chips: "Minisequencing" primer extension for analysis of point mutations and single nucleotide polymorphisms

A colorimetric minisequencing assay for the mutation in codon 506 of the coagulation factor V gene

Sitbon, G; Hurtig, M; Palotie, A; Lönngren, J et al.

Ingår i Thrombosis and Haemostasis, s. 701-703, 1997

Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays

Pastinen, T; Kurg, A; Metspalu, A; Peltonen, L et al.

Ingår i Genome Research, s. 606-614, 1997

• DOI för Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays

Tissue distribution and levels of gelsolin mRNA in normal individuals and patients with gelsolin-related amyloidosis.

Paunio, T; Kangas, H; Kiuru, S; Palo, J et al.

Ingår i FEBS Letters, s. 49-55, 1997

• DOI för Tissue distribution and levels of gelsolin mRNA in normal individuals and patients with gelsolin-related amyloidosis.

DNA diagnosis and identification of carriers of infantile and juvenile neuronal ceroid lipofuscinoses

Syvänen, Ann-Christine; Järvelä, I; Paunio, T; Vesa, J

Ingår i Neuropediatrics, s. 63-66, 1997

• DOI för DNA diagnosis and identification of carriers of infantile and juvenile neuronal ceroid lipofuscinoses

Genetic polymorphism of catechol-O-methyltransferase (COMT): correlation of genotype with individual variation of S-COMT activity and comparison of the allele frequencies in the normal population and parkinsonian patients in Finland

Syvänen, Ann-Christine; Tilgmann, C; Rinne, J; Ulmanen, I

Ingår i Pharmacogenetics, s. 65-71, 1997

Rapid diagnostic test for the major mutation underlying Batten disease

Järvelä, I; Mitchison, H M; Munroe, P B; O'Rawe, A M et al.

Ingår i Journal of Medical Genetics, s. 1041-1042, 1996

Affinity capture and solid-phase sequencing of biotinylated PCR products

Suomatainen, A; Syvänen, Ann-Christine

Ingår i Methods in Molecular Biology, s. 67-72, 1996

• DOI för Affinity capture and solid-phase sequencing of biotinylated PCR products

Analysis of nucleotide sequence variations by solid-phase minisequencing

Suomalainen, A; Syvänen, Ann-Christine

Ingår i Methods in Molecular Biology, s. 73-79, 1996

• DOI för Analysis of nucleotide sequence variations by solid-phase minisequencing

Multiplex, fluorescent, solid-phase minisequencing for efficient screening of DNA sequence variation

Pastinen, T; Partanen, J; Syvänen, Ann-Christine

Ingår i Clinical Chemistry, s. 1391-1397, 1996

Preimplantation diagnosis by whole-genome amplification, PCR amplification, and solid-phase minisequencing of blastomere DNA

Paunio, T; Reima, I; Syvänen, Ann-Christine

Ingår i Clinical Chemistry, s. 1382-1390, 1996

DNA-based carrier screening in primary healthcare: screening for aspartylglucosaminuria mutations in maternity health offices

Hietala, M; Aula, P; Syvänen, Ann-Christine; Isoniemi, A et al.

Ingår i Clinical Chemistry, s. 1398-1404, 1996

An accurate method for comparing transcript levels of two alleles or highly homologous genes: application to fibrillin transcripts in Marfan patients' fibroblasts

Karttunen, L; Lönnqvist, L; Godfrey, M; Peltonen, L et al.

Ingår i Genome Research, s. 392-403, 1996

• DOI för An accurate method for comparing transcript levels of two alleles or highly homologous genes: application to fibrillin transcripts in Marfan patients' fibroblasts

A chimeric disposition of the elongation factor genes in Rickettsia prowazekii

Syvänen, Ann-Christine; Amiri, Haleh; Jamal, Asfar; Andersson, Siv G. E. et al.

Ingår i Journal of Bacteriology, s. 6192-6199, 1996

Solid-phase minisequencing confirmed by FISH analysis in determination of gene copy number

Laan, M; Grön-Virta, K; Salo, A; Aula, P et al.

Ingår i Human Genetics, s. 275-280, 1995

• DOI för Solid-phase minisequencing confirmed by FISH analysis in determination of gene copy number

A microsatellite polymorphism in the von Willebrand factor gene: comparison of allele frequencies in different population samples and evaluation for forensic medicine

Sajantila, A; Pacek, P; Lukka, M; Syvänen, Ann-Christine et al.

Ingår i Forensic Science International, s. 91-102, 1994

Detection of point mutations in human genes by the solid-phase minisequencing method

Syvänen, Ann-Christine

Ingår i Clinica Chimica Acta, s. 225-236, 1994

• DOI för Detection of point mutations in human genes by the solid-phase minisequencing method

Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing

Juvonen, V; Huoponen, K; Syvänen, Ann-Christine; Nikoskelainen, E et al.

Ingår i Human Genetics, s. 16-20, 1994

• DOI för Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing

Towards automatic detection of point mutations: use of scintillating microplates in solid-phase minisequencing

Ihalainen, J; Siitari, H; Laine, S; Syvänen, Ann-Christine et al.

Ingår i BioTechniques, s. 938-943, 1994

Detection of point mutations by solid-phase methods

Syvänen, Ann-Christine; Landegren, Ulf

Ingår i Human Mutation, s. 172-179, 1994

• DOI för Detection of point mutations by solid-phase methods

A novel method to quantitate methylation of specific genomic regions

Heiskanen, M; Syvänen, Ann-Christine; Siitari, H; Laine, S et al.

Ingår i PCR methods and applications, s. 26-30, 1994

Identification of individuals by analysis of biallelic DNA markers, using PCR and solid-phase minisequencing

Syvänen, Ann-Christine; Sajantila, A; Lukka, M

Ingår i American Journal of Human Genetics, s. 46-59, 1993

Quantification of tRNA3243(Leu) point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription

Suomalainen, A; Majander, A; Pihko, H; Peltonen, L et al.

Ingår i Human Molecular Genetics, s. 525-534, 1993

• DOI för Quantification of tRNA3243(Leu) point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription

Aspartylglucosaminuria (AGU): protein and gene structure of normal and mutated aspartylglucosaminidase

Halila, R; Ikonen, E; Tollersrud, O; Syvänen, Ann-Christine et al.

Ingår i Biochemical Medicine and Metabolic Biology, s. 1-8, 1993

• DOI för Aspartylglucosaminuria (AGU): protein and gene structure of normal and mutated aspartylglucosaminidase

Quantification of polymerase chain reaction products by affinity-based collection

Syvänen, Ann-Christine; Söderlund, H

Ingår i Methods in Enzymology, s. 474-490, 1993

• DOI för Quantification of polymerase chain reaction products by affinity-based collection

Prospects of carrier screening of aspartylglucosaminuria in Finland

Hietala, M; Grön, K; Syvänen, Ann-Christine; Peltonen, L et al.

Ingår i European Journal of Human Genetics, s. 296-300, 1993

Quantification of mitochondrial DNA carrying the tRNA(8344Lys) point mutation in myoclonus epilepsy and ragged-red-fiber disease

Suomalainen, A; Kollmann, P; Octave, J N; Söderlund, H et al.

Ingår i European Journal of Human Genetics, s. 88-95, 1993

Development of molecular genetic methods for monitoring myeloid malignancies

Palotie, A; Syvänen, Ann-Christine

Ingår i Scandinavian journal of clinical & laboratory investigation. Supplementum, s. 29-38, 1993

Dissection of the molecular pathology of aspartylglucosaminuria provides the basis for DNA diagnostics and future therapeutic interventions

Ikonen, E; Syvänen, Ann-Christine; Peltonen, L

Ingår i Scandinavian journal of clinical and laboratory investigation. Supplementum, s. 19-27, 1993

Forensic DNA typing by the solid-phase minisequencing method

Syvänen, Ann-Christine; Sajantila, A; Lukka, M

Ingår i EXS, s. 275-282, 1993

Determination of allele frequencies at loci with length polymorphism by quantitative analysis of DNA amplified from pooled samples

Pacek, P; Sajantila, A; Syvänen, Ann-Christine

Ingår i PCR methods and applications, s. 313-317, 1993

• DOI för Determination of allele frequencies at loci with length polymorphism by quantitative analysis of DNA amplified from pooled samples

Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland

Syvänen, Ann-Christine; Ikonen, E; Manninen, T; Bengtström, M et al.

Ingår i Genomics, s. 590-595, 1992

• DOI för Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland

From one to millions: the polymerase chain reaction in diagnosis

Syvänen, Ann-Christine

Ingår i Annals of Medicine, s. 181-182, 1992

N-ras gene mutations in acute myeloid leukemia: accurate detection by solid-phase minisequencing

Syvänen, Ann-Christine; Söderlund, H; Laaksonen, E; Bengtström, M et al.

Ingår i International Journal of Cancer, s. 713-718, 1992

Solid-phase minisequencing test reveals Asp₁₈₇ → Asn (G₆₅₄ → A) mutation of gelsolin in all affected individuals with finnish type of familial amyloidosis

Paunio, T; Kiuru, S; Hongell, V; Mustonen, E et al.

Ingår i Genomics, s. 237-239, 1992

• DOI för Solid-phase minisequencing test reveals Asp₁₈₇ → Asn (G₆₅₄ → A) mutation of gelsolin in all affected individuals with finnish type of familial amyloidosis

The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland

Koivisto, U M; Turtola, H; Aalto-Setälä, K; Top, B et al.

Ingår i Journal of Clinical Investigation, s. 219-228, 1992

• DOI för The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland

Screening for defined cystic fibrosis mutations by solid-phase minisequencing

Jalanko, A; Kere, J; Savilahti, E; Schwartz, M et al.

Ingår i Clinical Chemistry, s. 39-43, 1992

Structural analysis of the regulatory elements of the type-II procollagen gene: Conservation of promoter and first intron sequences between human and mouse

Vikkula, M; Metsäranta, M; Syvänen, Ann-Christine; Ala-Kokko, L et al.

Ingår i Biochemical Journal, s. 287-294, 1992

Quantitative determination of rare mRNA species by PCR and solid-phase minisequencing

Ikonen, E; Manninen, T; Peltonen, L; Syvänen, Ann-Christine

Ingår i PCR methods and applications, s. 234-240, 1992

• DOI för Quantitative determination of rare mRNA species by PCR and solid-phase minisequencing

Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease

Ikonen, E; Baumann, M; Grön, K; Syvänen, Ann-Christine et al.

Ingår i EMBO Journal, s. 51-58, 1991

Spectrum of mutations in aspartylglucosaminuria

Ikonen, E; Aula, P; Grön, K; Tollersrud, O et al.

Ingår i Proceedings of the National Academy of Sciences of the United States of America, s. 11222-11226, 1991

Genetic analysis of the polymorphism of the human apolipoprotein E using automated solid-phase sequencing

Syvänen, Ann-Christine; Hultman, T; Aalto-Setälä, K; Söderlund, H et al.

Ingår i Genetic Analysis, Techniques and Applications (GATA), s. 117-123, 1991

• DOI för Genetic analysis of the polymorphism of the human apolipoprotein E using automated solid-phase sequencing

[Molecular genetics of aspartylglucosaminuria]

Palotie, L; Ikonen, E; Syvänen, Ann-Christine; Halila, R et al.

Ingår i Duodecim; lääketieteellinen aikakauskirja, s. 1916-1925, 1991

Apolipoprotein E polymorphism determined by restriction enzyme analysis of DNA amplified by polymerase chain reaction: convenient alternative to phenotyping by isoelectric focusing

Kontula, K; Aalto-Setälä, K; Kuusi, T; Hämäläinen, L et al.

Ingår i Clinical Chemistry, s. 2087-2092, 1990

A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E

Syvänen, Ann-Christine; Aalto-Setälä, K; Harju, L; Kontula, K et al.

Ingår i Genomics, s. 684-692, 1990

• DOI för A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E

Amplification of the hypervariable region close to the apolipoprotein B gene: application to forensic problems

Vuorio, A F; Sajantila, A; Hämäläinen, T; Syvänen, Ann-Christine et al.

Ingår i Biochemical and Biophysical Research Communications - BBRC, s. 616-620, 1990

• DOI för Amplification of the hypervariable region close to the apolipoprotein B gene: application to forensic problems

Sandwich hybridization in solution: a rapid method to screen HPV 16 DNA in cervical scrapes

Parkkinen, S; Mäntyjärvi, R; Syrjänen, K; Syvänen, Ann-Christine et al.

Ingår i Molecular and Cellular Probes, s. 1-11, 1989

• DOI för Sandwich hybridization in solution: a rapid method to screen HPV 16 DNA in cervical scrapes

Direct sequencing of affinity-captured amplified human DNA application to the detection of apolipoprotein E polymorphism

Syvänen, Ann-Christine; Aalto-Setälä, K; Kontula, K; Söderlund, H

Ingår i FEBS Letters, s. 71-74, 1989

• DOI för Direct sequencing of affinity-captured amplified human DNA application to the detection of apolipoprotein E polymorphism

Nucleic acid sandwich hybridization: enhanced reaction rate with magnetic microparticles as carriers

Jungell-Nortamo, A; Syvänen, Ann-Christine; Luoma, P; Söderlund, H

Ingår i Molecular and Cellular Probes, s. 281-288, 1988

• DOI för Nucleic acid sandwich hybridization: enhanced reaction rate with magnetic microparticles as carriers

Quantification of polymerase chain reaction products by affinity-based hybrid collection

Syvänen, Ann-Christine; Bengtström, M; Tenhunen, J; Söderlund, H

Ingår i Nucleic Acids Research, s. 11327-11338, 1988

Sensitive detection of genes by sandwich hybridization and time-resolved fluorometry

Dahlén, P; Syvänen, Ann-Christine; Hurskainen, P; Kwiatkowski, M et al.

Ingår i Molecular and Cellular Probes, s. 159-168, 1987

• DOI för Sensitive detection of genes by sandwich hybridization and time-resolved fluorometry

[DNA identification in the diagnosis of infectious diseases]: [status in the present and near future]

Ranki, M; Syvänen, Ann-Christine

Ingår i Duodecim; lääketieteellinen aikakauskirja, s. 1126-1133, 1987

Fast quantification of nucleic acid hybrids by affinity-based hybrid collection

Syvänen, Ann-Christine; Laaksonen, M; Söderlund, H

Ingår i Nucleic Acids Research, s. 5037-5048, 1986

Time-resolved fluorometry: a sensitive method to quantify DNA-hybrids

Syvänen, Ann-Christine; Tchen, P; Ranki, M; Söderlund, H

Ingår i Nucleic Acids Research, s. 1017-1028, 1986

Nucleic acid hybridization: from research tool to routine diagnostic method

Syvänen, Ann-Christine

Ingår i Medical biology, s. 313-324, 1986

A complex of single-strand binding protein and M13 DNA as hybridization probe

Syvänen, Ann-Christine; Alanen, M; Söderlund, H

Ingår i Nucleic Acids Research, s. 2789-2802, 1985

Cytomegalovirus in urine: detection of viral DNA by sandwich hybridization

Virtanen, M; Syvänen, Ann-Christine; Oram, J; Söderlund, H et al.

Ingår i Journal of Clinical Microbiology, s. 1083-1088, 1984

Conformation and sequence dependent antigenic determinants in human low molecular weight kininogen

Syvänen, Ann-Christine; Kärkkäinen, T; Hamberg, U

Ingår i Molecular Immunology, s. 669-678, 1983

• DOI för Conformation and sequence dependent antigenic determinants in human low molecular weight kininogen

Immunoassay of molecular forms of human plasma kininogen and detection of low Mr fragments of kininogen by means of a conformation-dependent antigenic determinant

Hamberg, U; Syvanen, Ann-Christine; Karkkainen, T

Ingår i Advances in Experimental Medicine and Biology, s. 175-182, 1983

Isolation and immunologic properties of a heterogeneous antigen with the characteristics of the heavy chain of human plasma kininogen

Kärkkäinen, T; Syvänen, Ann-Christine; Turpeinen, U; Hamberg, U

Ingår i Molecular Immunology, s. 179-189, 1982

• DOI för Isolation and immunologic properties of a heterogeneous antigen with the characteristics of the heavy chain of human plasma kininogen

Identification in human plasma of low Mr protein fragments with antigenic determinants of kininogen

Hamberg, U; Syvänen, Ann-Christine; Siimesmaa, S

Ingår i FEBS Letters, s. 128-132, 1982

• DOI för Identification in human plasma of low Mr protein fragments with antigenic determinants of kininogen

Kininogen in factor VIII-deficient plasma (haemophilia A)

Syvänen, Ann-Christine; Hedner, U; Hamberg, U

Ingår i Thrombosis Research, s. 275-284, 1981

• DOI för Kininogen in factor VIII-deficient plasma (haemophilia A)

Kininogen molecular heterogeneity by affinity chromatography on concanavalin A and Ricinus communis lectins

Turpeinen, U; Syvänen, Ann-Christine; Hamberg, U

Ingår i FEBS Letters, s. 137-142, 1981

• DOI för Kininogen molecular heterogeneity by affinity chromatography on concanavalin A and Ricinus communis lectins

A radioimmunoassay for the detection of molecular forms of human plasma kininogen

Syvänen, Ann-Christine; Turpeinen, U; Siimesmaa, S; Hamberg, U

Ingår i FEBS Letters, s. 241-245, 1981

Potentiation of bradykinin with synthetic peptides on guinea pig ileum

Ragnarsson, U; Syvänen, Ann-Christine; Hamberg, U

Ingår i International journal of peptide and protein research, s. 61-68, 1981

Human kininogen from Cohns Fraction IV: comparisons of antigenicity and multiple forms

Hamberg, U; Syvanen, Ann-Christine; Karkkainen, T

Ingår i Advances in Experimental Medicine and Biology, s. 173-183, 1979

From early methods for DNA diagnostics to genomes and epigenomes at high resolution during four decades: a personal perspective

Syvänen, Ann-Christine

Ingår i Upsala Journal of Medical Sciences, 2024

• DOI för From early methods for DNA diagnostics to genomes and epigenomes at high resolution during four decades: a personal perspective
• Ladda ner fulltext (pdf) av From early methods for DNA diagnostics to genomes and epigenomes at high resolution during four decades: a personal perspective

Epigenetics in pediatric acute lymphoblastic leukemia

Nordlund, Jessica; Syvänen, Ann-Christine

Ingår i Seminars in Cancer Biology, s. 129-138, 2018

• DOI för Epigenetics in pediatric acute lymphoblastic leukemia
• Ladda ner fulltext (pdf) av Epigenetics in pediatric acute lymphoblastic leukemia

Analysis of DNA sequence variation in the microarray format

Liljedahl, Ulrika; Fredriksson, Mona; Syvänen, Ann-Christine

Ingår i Microarray Technology and Its Applications, s. 211-227, Springer, 2005

Multiplex minisequencing on microarrays: Applications to pharmacogenetics of antihypertensive drug response

Liljedahl, Ulrika; Syvänen, Ann-Christine

Ingår i Pharmacogenomics, s. 341-351, Taylor & Francis, 2005

Genotyping single-nucleotide polymorphisms by minisequencing using tag arrays

Lovmar, Lovisa; Syvänen, Ann-Christine

Ingår i Microarrays in Clinical Diagnostics, s. 79-92, Humana Press, 2005

• DOI för Genotyping single-nucleotide polymorphisms by minisequencing using tag arrays

Microarrays: Use in Mutation Detection

Syvänen, Ann-Christine

Ingår i Nature encyclopedia of the human genome, s. 940-944, Nature Publishing Group, 2003

Analysis of genetic variation in the GenomEUtwin project.

Silander, Kaisa; Axelsson, Tomas; Widén, Elisabeth; Dahlgren, Andreas et al.

2003

Polymorphisms in the Interferon Regulatory Factor 5 Gene are Associated with Anti-cyclic Citrullinated Peptide Antibody Negative Rheumatoid Arthritis

Sigurdsson, Snaevar; Padyukov, Leonid; Liljedahl, Ulrika; Alfredsson, Lars et al.

2012

Variants in the HHEX gene are associated with biochemical markers for beta-cell function in the ULSAM cohort

Dahlgren, Andreas; Zethelius, Björn; Eriksson, Niklas; Lundmark, Per et al.

2012

Finemapping of a QTL for body height on the human X chromosome in a Finnish twin cohort.

Dahlgren, Andreas; Perola, Markus; Liljedahl, Ulrika; Kaprio, Jaakko et al.

Rate of introgression in island versus clinal hybrid zones of Ficedula flycatchers are consistent with regional differences in hybrid fertility

Borge, Thomas; Lindroos, Katarina; Nadvornik, Petr; Syvänen, Ann-Christine et al.

Detection of alternatively spliced transcripts in leukaemia cell lines by minisequencing on microarrays

Fredriksson, Mona; Syvänen, Ann-Christine

A Microarray Method for the Simultaneous Genotyping of Helicobacter pylori Strains and Human Cytokines

Storm, Martin; Persson, Christina; Lovmar, Lovisa; Andersson, Anders et al.

Sex-linked speciation in Ficedula flycatchers

Borge, Thomas; Lindroos, Katarina; Haavie, Jon; Primmer, Craig et al.

Identification of somatic single nucleotide variants inleukemia by targeted sequencing of non-indexed overlapping pools

Lindqvist, Carl Mårten; Dahlberg, Johan; Raine, Amanda; Övernäs, Elin et al.

Identification of trait-associated single nucleotide polymorphisms with cis-regulatory effects on long non-coding RNAs

Lundmark, Per; Lundmark, Anders; Liljedahl, Ulrika; Enström, Camilla et al.

Refined detection and phasing of structural aberrations in pediatric acute lymphoblastic leukemia with linked-read whole genome sequencing

Nordlund, Jessica; Marincevic-Zuniga, Yanara; Cavelier, Lucia; Raine, Amanda et al.

Dissection of genes in the type I interferon pathway reveals two novel risk loci for SLE

Sandling, Johanna K; Garnier, Sophie; Sigurdsson, Snaevar; Wang, Chuan et al.

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