Niklas Dahl

KRIT1 heterozygous mutations are sufficient to induce a pathological phenotype in patient-derived iPSC models of cerebral cavernous malformation

Arce, Maximiliano; Erzar, Iza; Yang, Fan; Senthilkumar, Neeharika et al.

Ingår i Cell Reports, 2025

• DOI för KRIT1 heterozygous mutations are sufficient to induce a pathological phenotype in patient-derived iPSC models of cerebral cavernous malformation
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Comprehensive transcriptome assessment in PBMCs of post-COVID patients at a median follow-up of 28 months after a mild COVID infection reveals upregulation of JAK/STAT signaling and a prolonged immune response

Fineschi, Serena; Klar, Joakim; Lopez Egido, Juan Ramon; Schuster, Jens et al.

Ingår i Frontiers in Immunology, 2025

• DOI för Comprehensive transcriptome assessment in PBMCs of post-COVID patients at a median follow-up of 28 months after a mild COVID infection reveals upregulation of JAK/STAT signaling and a prolonged immune response
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Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications

Schuster, Jens; Lu, Xi; Dang, Yonglong; Klar, Joakim et al.

Ingår i eLIFE, 2024

• DOI för Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications
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Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay

Thuresson, Ann-Charlotte; Brazina, Jan; Akram, Talia; Albrecht, Julia et al.

Ingår i Molecular Genetics & Genomic Medicine, 2024

• DOI för Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay
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Generation of a ZEB2 deficient human iPSC line (KICRi002A-4)

Schuster, Jens; Fatima, Ambrin; Papadopoulos, Natalia; de Guidi, Claudia et al.

Ingår i Stem Cell Research, 2024

• DOI för Generation of a ZEB2 deficient human iPSC line (KICRi002A-4)
• Ladda ner fulltext (pdf) av Generation of a ZEB2 deficient human iPSC line (KICRi002A-4)

KRIT1 heterozygous mutations are sufficient to induce a pathological phenotype in patient-derived iPSC models of cerebral cavernous malformation

Arce, Maximiliano; Erzar, Iza; Yang, Fan; Senthilkumar, Neeharika et al.

Ingår i Cell Reports, 2025

• DOI för KRIT1 heterozygous mutations are sufficient to induce a pathological phenotype in patient-derived iPSC models of cerebral cavernous malformation
• Ladda ner fulltext (pdf) av KRIT1 heterozygous mutations are sufficient to induce a pathological phenotype in patient-derived iPSC models of cerebral cavernous malformation

Comprehensive transcriptome assessment in PBMCs of post-COVID patients at a median follow-up of 28 months after a mild COVID infection reveals upregulation of JAK/STAT signaling and a prolonged immune response

Fineschi, Serena; Klar, Joakim; Lopez Egido, Juan Ramon; Schuster, Jens et al.

Ingår i Frontiers in Immunology, 2025

• DOI för Comprehensive transcriptome assessment in PBMCs of post-COVID patients at a median follow-up of 28 months after a mild COVID infection reveals upregulation of JAK/STAT signaling and a prolonged immune response
• Ladda ner fulltext (pdf) av Comprehensive transcriptome assessment in PBMCs of post-COVID patients at a median follow-up of 28 months after a mild COVID infection reveals upregulation of JAK/STAT signaling and a prolonged immune response

Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications

Schuster, Jens; Lu, Xi; Dang, Yonglong; Klar, Joakim et al.

Ingår i eLIFE, 2024

• DOI för Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications
• Ladda ner fulltext (pdf) av Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications

Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay

Thuresson, Ann-Charlotte; Brazina, Jan; Akram, Talia; Albrecht, Julia et al.

Ingår i Molecular Genetics & Genomic Medicine, 2024

• DOI för Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay
• Ladda ner fulltext (pdf) av Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay

Generation of a ZEB2 deficient human iPSC line (KICRi002A-4)

Schuster, Jens; Fatima, Ambrin; Papadopoulos, Natalia; de Guidi, Claudia et al.

Ingår i Stem Cell Research, 2024

• DOI för Generation of a ZEB2 deficient human iPSC line (KICRi002A-4)
• Ladda ner fulltext (pdf) av Generation of a ZEB2 deficient human iPSC line (KICRi002A-4)

Heredity of pregnancy‐related pelvic girdle pain in Sweden

Kristiansson, Per; Zöller, Bengt; Dahl, Niklas; Kalliokoski, Paul et al.

Ingår i Acta Obstetricia et Gynecologica Scandinavica, s. 1250-1258, 2023

• DOI för Heredity of pregnancy‐related pelvic girdle pain in Sweden
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Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders

Saadi, Saadia Maryam; Cali, Elisa; Khalid, Lubaba Bintee; Yousaf, Hammad et al.

Ingår i Genes, 2023

• DOI för Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders
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Mutations in human DNA methyltransferase DNMT1 induce specific genome-wide epigenomic and transcriptomic changes in neurodevelopment

Davis, Kasey N.; Qu, Ping-Ping; Ma, Shining; Lin, Ling et al.

Ingår i Human Molecular Genetics, s. 3105-3120, 2023

• DOI för Mutations in human DNA methyltransferase DNMT1 induce specific genome-wide epigenomic and transcriptomic changes in neurodevelopment

Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family

Fagius, Jan; Klar, Joakim; Dahl, Niklas

Ingår i Clinical Autonomic Research, s. 421-432, 2023

• DOI för Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family
• Ladda ner fulltext (pdf) av Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family

Inflammation and Interferon Signatures in Peripheral B-Lymphocytes and Sera of Individuals With Fibromyalgia

Fineschi, Serena; Klar, Joakim; Gustafsson, Kristin Ayoola; Jonsson, Kent et al.

Ingår i Frontiers in Immunology, 2022

• DOI för Inflammation and Interferon Signatures in Peripheral B-Lymphocytes and Sera of Individuals With Fibromyalgia
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Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model

Schuy, Jakob; Eisfeldt, Jesper; Pettersson, Maria; Shahrokhshahi, Niloofar et al.

Ingår i Frontiers in Genetics, 2022

• DOI för Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model
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Cohort profile: the Swedish study of SUDden cardiac Death in the Young (SUDDY) 2000-2010: a complete nationwide cohort of SCDs

Stattin, Evalena; Hagström, Emil; Dahl, Niklas; Strömsöe, Anneli et al.

Ingår i BMJ Open, 2022

• DOI för Cohort profile: the Swedish study of SUDden cardiac Death in the Young (SUDDY) 2000-2010: a complete nationwide cohort of SCDs
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GATA-1 Defects in Diamond-Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease

van Dooijeweert, Birgit; Kia, Sima Kheradmand; Dahl, Niklas; Fenneteau, Odile et al.

Ingår i Genes, 2022

• DOI för GATA-1 Defects in Diamond-Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease
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Generation of a human iPSC line (UUIGPi015-A) from a patient with Dravet syndrome and a 2.9 Mb deletion spanning SCN1A on chromosome 2

Schuster, Jens; Tripathi, Rekha; Klar, Joakim; Dahl, Niklas

Ingår i Stem Cell Research, 2022

• DOI för Generation of a human iPSC line (UUIGPi015-A) from a patient with Dravet syndrome and a 2.9 Mb deletion spanning SCN1A on chromosome 2
• Ladda ner fulltext (pdf) av Generation of a human iPSC line (UUIGPi015-A) from a patient with Dravet syndrome and a 2.9 Mb deletion spanning SCN1A on chromosome 2

ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function

Schuster, Jens; Klar, Joakim; Khalfallah, Ayda; Laan, Loora et al.

Ingår i Frontiers in Molecular Neuroscience, 2022

• DOI för ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function
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Generation of human induced pluripotent stem cell (iPSC) lines (UUMCBi001-A, UUMCBi002-A) from two healthy donors

Vasylovska, Svitlana; Schuster, Jens; Brboric, Anja; Carlsson, Per-Ola et al.

Ingår i Stem Cell Research, 2021

• DOI för Generation of human induced pluripotent stem cell (iPSC) lines (UUMCBi001-A, UUMCBi002-A) from two healthy donors
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Syndromic RNA polymerase II insufficiency: Generation of a human induced pluripotent stem cell line (UUIGPi002A-5) with a heterozygous disruption of POLR2A

Schuster, Jens; de Guidi, Claudia; Fatima, Ambrin; Sobol, Maria et al.

Ingår i Stem Cell Research, 2021

• DOI för Syndromic RNA polymerase II insufficiency: Generation of a human induced pluripotent stem cell line (UUIGPi002A-5) with a heterozygous disruption of POLR2A
• Ladda ner fulltext (pdf) av Syndromic RNA polymerase II insufficiency: Generation of a human induced pluripotent stem cell line (UUIGPi002A-5) with a heterozygous disruption of POLR2A

Identification of a novel variant in GPR56/ADGRG1 gene through whole exome sequencing in a consanguineous Pakistani family

Zulfiqar, Shumaila; Tariq, Muhammad; Ramzan, Shafaq; Khan, Ayaz et al.

Ingår i Journal of clinical neuroscience, s. 8-12, 2021

• DOI för Identification of a novel variant in GPR56/ADGRG1 gene through whole exome sequencing in a consanguineous Pakistani family

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

Delvallée, Clarisse; Nicaise, Samuel; Antin, Manuela; Leuvrey, Anne-Sophie et al.

Ingår i Clinical Genetics, s. 318-324, 2021

• DOI för A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome
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Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy

Fatima, Ambrin; Hoeber, Jan; Schuster, Jens; Koshimizu, Eriko et al.

Ingår i American Journal of Human Genetics, s. 739-748, 2021

• DOI för Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy
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A combined approach for single-cell mRNA and intracellular protein expression analysis

Reimegård, Johan; Tarbier, Marcel; Danielsson, Marcus; Schuster, Jens et al.

Ingår i Communications Biology, 2021

• DOI för A combined approach for single-cell mRNA and intracellular protein expression analysis
• Ladda ner fulltext (pdf) av A combined approach for single-cell mRNA and intracellular protein expression analysis

Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele

Akram, Talia; Fatima, Ambrin; Klar, Joakim; Hoeber, Jan et al.

Ingår i International Journal of Hematology, s. 894-899, 2020

• DOI för Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele

DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors

Laan, Loora; Klar, Joakim; Sobol, Maria; Hoeber, Jan et al.

Ingår i Clinical Epigenetics, 2020

• DOI för DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors
• Ladda ner fulltext (pdf) av DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors

Generation of two human iPSC lines (UUIGPi013-A and UUIPGi014-A) from cases with Down syndrome and full trisomy for chromosome 21 (T21)

Schuster, Jens; Hoeber, Jan; Sobol, Maria; Fatima, Ambrin et al.

Ingår i Stem Cell Research, 2020

• DOI för Generation of two human iPSC lines (UUIGPi013-A and UUIPGi014-A) from cases with Down syndrome and full trisomy for chromosome 21 (T21)

Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants

Klar, Joakim; Engstrand-Lilja, Helene; Maqbool, Khurram; Mattisson, Jonas et al.

Ingår i BMC Medical Genomics, 2020

• DOI för Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants
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Aniridia with PAX6 mutations and narcolepsy

Ghaderi Berntsson, Shala; Kristoffersson, Anna; Daniilidou, Makrina; Dahl, Niklas et al.

Ingår i Journal of Sleep Research, 2020

• DOI för Aniridia with PAX6 mutations and narcolepsy

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Ebrahimi-Fakhari, Darius; Teinert, Julian; Behne, Robert; Wimmer, Miriam et al.

Ingår i Brain, s. 2929-2944, 2020

• DOI för Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations

Niemelä, Valter; Salih, Ammar; Solea, Daniela; Lindvall, Bjoern et al.

Ingår i NEUROLOGY-GENETICS, 2020

• DOI för Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations
• Ladda ner fulltext (pdf) av Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations

Generation of a human Neurochondrin deficient iPSC line KICRi002-A-3 using CRISPR/Cas9

Fatima, Ambrin; Schuster, Jens; Akram, Talia; Sobol, Maria et al.

Ingår i Stem Cell Research, 2020

• DOI för Generation of a human Neurochondrin deficient iPSC line KICRi002-A-3 using CRISPR/Cas9
• Ladda ner fulltext (pdf) av Generation of a human Neurochondrin deficient iPSC line KICRi002-A-3 using CRISPR/Cas9

Incontinentia pigmenti: Generation of an IKBKG deficient human iPSC line (KICRi002-A-1) on a 46,XY background using CRISPR/Cas9

Fatima, Ambrin; Schuster, Jens; Akram, Talia; Gonzalez, Carolina Maya et al.

Ingår i Stem Cell Research, 2020

• DOI för Incontinentia pigmenti: Generation of an IKBKG deficient human iPSC line (KICRi002-A-1) on a 46,XY background using CRISPR/Cas9
• Ladda ner fulltext (pdf) av Incontinentia pigmenti: Generation of an IKBKG deficient human iPSC line (KICRi002-A-1) on a 46,XY background using CRISPR/Cas9

Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42

Zakaria, Muhammad; Fatima, Ambrin; Klar, Joakim; Wikström, Johan et al.

Ingår i Human Mutation, s. 899-903, 2019

• DOI för Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42

Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families

Zulfiqar, Shumaila; Tariq, Muhammad; Ali, Zafar; Fatima, Ambrin et al.

Ingår i Journal of clinical neuroscience, s. 19-23, 2019

• DOI för Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families

Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186

Kvarnung, Malin; Shahsavani, Mansoureh; Taylan, Fulya; Moslem, Mohsen et al.

Ingår i Frontiers in Genetics, 2019

• DOI för Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186
• Ladda ner fulltext (pdf) av Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186

Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations

Schuster, Jens; Fatima, Ambrin; Sobol, Maria; Noraddin, Feria Hikmet et al.

Ingår i Stem Cell Research, 2019

• DOI för Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations
• Ladda ner fulltext (pdf) av Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations

Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant

Schuster, Jens; Sobol, Maria; Fatima, Ambrin; Khalfallah, Ayda et al.

Ingår i Stem Cell Research, 2019

• DOI för Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant
• Ladda ner fulltext (pdf) av Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant

Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions

Sobol, Maria; Klar, Joakim; Laan, Loora; Shahsavani, Mansoureh et al.

Ingår i Molecular Neurobiology, s. 7113-7127, 2019

• DOI för Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions
• Ladda ner fulltext (pdf) av Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions

Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment

Schuster, Jens; Laan, Loora; Klar, Joakim; Jin, Zhe et al.

Ingår i Neurobiology of Disease, 2019

• DOI för Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment
• Ladda ner fulltext (pdf) av Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment

Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality

Lam, Matti; Moslem, Mohsen; Bryois, Julien; Pronk, Robin J. et al.

Ingår i Experimental Cell Research, 2019

• DOI för Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality
• Ladda ner fulltext (pdf) av Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality

Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations

Schuster, Jens; Fatima, Ambrin; Schwarz, Franziska; Klar, Joakim et al.

Ingår i Stem Cell Research, 2019

• DOI för Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations
• Ladda ner fulltext (pdf) av Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations

De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis

Wang, Sheng; Mandell, Jeffrey D.; Kumar, Yogesh; Sun, Nawei et al.

Ingår i Cell Reports, s. 3441-+, 2018

• DOI för De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis
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An in vitro model of lissencephaly: expanding the role of DCX during neurogenesis

Shahsavani, M; Pronk, R J; Falk, R; Lam, M et al.

Ingår i Molecular Psychiatry, s. 1674-1684, 2018

• DOI för An in vitro model of lissencephaly: expanding the role of DCX during neurogenesis

Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing

Höijer, Ida; Tsai, Yu-Chih; Clark, Tyson A.; Kotturi, Paul et al.

Ingår i Human Mutation, s. 1262-1272, 2018

• DOI för Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing
• Ladda ner fulltext (pdf) av Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing

Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype

Frykholm, Carina; Klar, Joakim; Tomanovic, Tatjana; Ameur, Adam et al.

Ingår i European Journal of Human Genetics, s. 1871-1874, 2018

• DOI för Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype

Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features

Ali, Zafar; Zulfiqar, Shumaila; Klar, Joakim; Wikström, Johan et al.

Ingår i BMC Medical Genetics, 2017

• DOI för Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features
• Ladda ner fulltext (pdf) av Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features

Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage

Klar, Joakim; Piontek, Jörg; Milatz, Susanne; Tariq, Muhammad et al.

Ingår i PLOS Genetics, 2017

• DOI för Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage
• Ladda ner fulltext (pdf) av Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage

SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.

Stattin, Evalena; Henning, Petra; Klar, Joakim; McDermott, Emma et al.

Ingår i Scientific Reports, 2017

• DOI för SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.
• Ladda ner fulltext (pdf) av SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.

A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.

Klar, Joakim; Ali, Zafar; Farooq, Muhammad; Khan, Kamal et al.

Ingår i European Journal of Human Genetics, s. 848-853, 2017

• DOI för A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.

Resolution of infantile intestinal pseudo-obstruction in a boy

Angsten, Gertrud; Gustafson, Elisabet; Dahl, Niklas; Christofferson, Rolf H.

Ingår i Journal of Pediatric Surgery Case Reports, s. 28-34, 2017

• DOI för Resolution of infantile intestinal pseudo-obstruction in a boy
• Ladda ner fulltext (pdf) av Resolution of infantile intestinal pseudo-obstruction in a boy

ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Halim, Danny; Hofstra, Robert M. W.; Signorile, Luca; Verdijk, Rob M. et al.

Ingår i Human Molecular Genetics, s. 571-583, 2016

• DOI för ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency

Bergendal, Birgitta; Norderyd, Johanna; Zhou, Xiaolei; Klar, Joakim et al.

Ingår i BMC Medical Genetics, 2016

• DOI för Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency
• Ladda ner fulltext (pdf) av Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency

Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities

Ali, Zafar; Klar, Joakim; Jameel, Mohammad; Khan, Kamal et al.

Ingår i Journal of the Neurological Sciences, s. 105-111, 2016

• DOI för Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities

Generation of human iPS cell line CTL07-II from human fibroblasts, under defined and xeno-free conditions

Kele, Malin; Day, Kelly; Ronnholm, Harriet; Schuster, Jens et al.

Ingår i Stem Cell Research, s. 474-478, 2016

• DOI för Generation of human iPS cell line CTL07-II from human fibroblasts, under defined and xeno-free conditions
• Ladda ner fulltext (pdf) av Generation of human iPS cell line CTL07-II from human fibroblasts, under defined and xeno-free conditions

Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans

Klar, Joakim; Schuster, Jens; Khan, Tahir Naeem; Jameel, Muhammad et al.

Ingår i Journal of Medical Genetics, s. 599-606, 2015

• DOI för Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans

Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation

Frykholm, Carina; Klar, Joakim; Arnesson, Hanna; Rehnman, Anna-Carin et al.

Ingår i Gene, s. 10-16, 2015

• DOI för Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation

MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).

Wilbe, Maria; Ekvall, Sara; Eurenius, Karin; Ericson, Katharina et al.

Ingår i Journal of Medical Genetics, s. 195-202, 2015

• DOI för MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).

Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution

Klar, Joakim; Raykova, Doroteya; Gustafson, Elisabet; Tóthová, Iveta et al.

Ingår i European Journal of Human Genetics, s. 1679-1683, 2015

• DOI för Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution

LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course

Finnsson, Johannes; Sundblom, Jimmy; Dahl, Niklas; Melberg, Atle et al.

Ingår i Annals of Neurology, s. 412-25, 2015

• DOI för LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course
• Ladda ner fulltext (pdf) av LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course

Methods of Reprogramming to Induced Pluripotent Stem Cell Associated with Chromosomal Integrity and Delineation of a Chromosome 5q Candidate Region for Growth Advantage

Sobol, Maria; Raykova, Doroteya; Cavelier, Lucia; Khalfallah, Ayda et al.

Ingår i Stem Cells and Development, s. 2032-2040, 2015

• DOI för Methods of Reprogramming to Induced Pluripotent Stem Cell Associated with Chromosomal Integrity and Delineation of a Chromosome 5q Candidate Region for Growth Advantage

Transcriptome Profiling Reveals Degree of Variability in Induced Pluripotent Stem Cell Lines: Impact for Human Disease Modeling

Schuster, Jens; Halvardson, Jonatan; Lorenzo, Laureanne Pilar; Ameur, Adam et al.

Ingår i Cellular Reprogramming, s. 327-337, 2015

• DOI för Transcriptome Profiling Reveals Degree of Variability in Induced Pluripotent Stem Cell Lines: Impact for Human Disease Modeling

Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation

Khan, Tahir Naeem; Klar, Joakim; Tariq, Muhammad; Baig, Shehla Anjum et al.

Ingår i European Journal of Human Genetics, s. 1180-1184, 2014

• DOI för Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation

A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency

Jameel, Muhammad; Klar, Joakim; Tariq, Muhammad; Moawia, Abubakar et al.

Ingår i BMC Medical Genetics, s. 133, 2014

• DOI för A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency
• Ladda ner fulltext (pdf) av A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency

Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis

Raykova, Doroteya; Klar, Joakim; Azhar, Aysha; Khan, Tahir Naeem et al.

Ingår i PLOS ONE, 2014

• DOI för Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
• Ladda ner fulltext (pdf) av Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis

Abolished InsP₃R2 function inhibits sweat secretion in both humans and mice

Klar, Joakim; Hisatsune, Chihiro; Baig, Shahid M.; Tariq, Muhammad et al.

Ingår i Journal of Clinical Investigation, s. 4773-4780, 2014

• DOI för Abolished InsP₃R2 function inhibits sweat secretion in both humans and mice

Disheveled regulates precoupling of heterotrimeric G proteins to Frizzled 6

Kilander, Michaela B. C.; Petersen, Julian; Andressen, Kjetil Wessel; Ganji, Ranjani Sri et al.

Ingår i The FASEB Journal, s. 2293-2305, 2014

• DOI för Disheveled regulates precoupling of heterotrimeric G proteins to Frizzled 6

Recurrent GATA1 mutations in Diamond-Blackfan anaemia

Klar, Joakim; Khalfallah, Ayda; Arzoo, Pakeeza Shaiq; Gazda, Hanna T. et al.

Ingår i British Journal of Haematology, s. 949-951, 2014

• DOI för Recurrent GATA1 mutations in Diamond-Blackfan anaemia

WNT10A Mutations Account for 1/4 of Population- Based Isolated Oligodontia and Show Phenotypic Correlations

Arzoo, Pakeeza Shaiq; Klar, Joakim; Bergendal, Birgitta; Norderyd, Johanna et al.

Ingår i American Journal of Medical Genetics. Part A, s. 353-359, 2014

• DOI för WNT10A Mutations Account for 1/4 of Population- Based Isolated Oligodontia and Show Phenotypic Correlations

Clinical utility gene card for: Diamond-Blackfan anemia--update 2013

Valchos, Adrianna; Dahl, Niklas; Dianzani, Irma; Lipton, Jeffrey M.

Ingår i European Journal of Human Genetics, 2013

• DOI för Clinical utility gene card for: Diamond-Blackfan anemia--update 2013
• Ladda ner fulltext (pdf) av Clinical utility gene card for: Diamond-Blackfan anemia--update 2013

Cenani-Lenz syndrome restricted to limb and kidney anomalies associated with a novel LRP4 missense mutation

Khan, Tahir Naeem; Klar, Joakim; Ali, Zafar; Khan, F. et al.

Ingår i European Journal of Medical Genetics, s. 371-374, 2013

• DOI för Cenani-Lenz syndrome restricted to limb and kidney anomalies associated with a novel LRP4 missense mutation

Welander Distal Myopathy Caused by an Ancient Founder Mutation in TIA1 Associated with Perturbed Splicing.

Klar, Joakim; Sobol, Maria; Melberg, Atle; Mäbert, Katrin et al.

Ingår i Human Mutation, s. 572-577, 2013

• DOI för Welander Distal Myopathy Caused by an Ancient Founder Mutation in TIA1 Associated with Perturbed Splicing.

Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression

Giorgio, Elisa; Rolyan, Harshvardhan; Kropp, Laura; Chakka, Anish Baswanth et al.

Ingår i Human Mutation, s. 1160-1171, 2013

• DOI för Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression

Frizzled6 Deficiency Disrupts the Differentiation Process of Nail Development

Cui, Chang-Yi; Klar, Joakim; Georgii-Heming, Patrik; Fröjmark, Anne-Sophie et al.

Ingår i Journal of Investigative Dermatology, s. 1990-1997, 2013

• DOI för Frizzled6 Deficiency Disrupts the Differentiation Process of Nail Development

siRNA silencing of proteasome maturation protein (POMP) activates the unfolded protein response and constitutes a model for KLICK genodermatosis

Dahlqvist, Johanna; Törmä, Hans; Badhai, Jitendra; Dahl, Niklas

Ingår i PLOS ONE, 2012

• DOI för siRNA silencing of proteasome maturation protein (POMP) activates the unfolded protein response and constitutes a model for KLICK genodermatosis
• Ladda ner fulltext (pdf) av siRNA silencing of proteasome maturation protein (POMP) activates the unfolded protein response and constitutes a model for KLICK genodermatosis

Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder

Hooper, Sean D.; Johansson, Anna C. V.; Tellgren-Roth, Christian; Stattin, Eva-Lena et al.

Ingår i BMC Medical Genetics, s. 123, 2012

• DOI för Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder
• Ladda ner fulltext (pdf) av Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder

Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1l)

Khan, Tahir Naeem; Klar, Joakim; Nawaz, Sadia; Jameel, Muhammad et al.

Ingår i BMC Medical Genetics, s. 120, 2012

• DOI för Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1l)

Ichthyin/NIPAL4 localizes to keratins and desmosomes in epidermis and Ichthyin mutations affect epidermal lipid metabolism

Dahlqvist, Johanna; Westermark, Gunilla T.; Vahlquist, Anders; Dahl, Niklas

Ingår i Archives of Dermatological Research, s. 377-386, 2012

• DOI för Ichthyin/NIPAL4 localizes to keratins and desmosomes in epidermis and Ichthyin mutations affect epidermal lipid metabolism

Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: Inter- and intra-individual variation and correlation to the phenotype

Kvarnung, Malin; Lindstrand, Anna; Malmgren, Helena; Thastrom, Anders et al.

Ingår i American Journal of Medical Genetics. Part A, s. 1111-1117, 2012

• DOI för Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: Inter- and intra-individual variation and correlation to the phenotype

Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12

Nawaz, Sadia; Tariq, Muhammad; Ahmad, Ilyas; Malik, Naveed Altaf et al.

Ingår i EJD. European journal of dermatology, s. 178-181, 2012

• DOI för Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12

A novel mutation in Lysophosphatidic Acid Receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect

Azhar, Aysha; Tariq, Muhammad; Baig, Shahid Mahmood; Dahl, Niklas et al.

Ingår i EJD. European journal of dermatology, s. 464-466, 2012

• DOI för A novel mutation in Lysophosphatidic Acid Receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect

A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair

Tariq, M.; Azhar, A.; Baig, S. M.; Dahl, Niklas et al.

Ingår i Scientific Reports, s. 730, 2012

• DOI för A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair

FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome

Sobol, Maria; Dahl, Niklas; Klar, Joakim

Ingår i BMC Research Notes, s. 90, 2011

• DOI för FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome

Fibroblast growth factor 10 haploinsufficiency causes chronic obstructive pulmonary disease

Klar, Joakim; Blomstrand, Peter; Brunmark, Charlott; Badhai, Jitendra et al.

Ingår i Journal of Medical Genetics, s. 705-709, 2011

• DOI för Fibroblast growth factor 10 haploinsufficiency causes chronic obstructive pulmonary disease

Mutations in frizzled 6 cause isolated autosomal-recessive nail dysplasia

Fröjmark, Anne-Sophie; Schuster, Jens; Sobol, Maria; Entesarian, Miriam et al.

Ingår i American Journal of Human Genetics, s. 852-860, 2011

• DOI för Mutations in frizzled 6 cause isolated autosomal-recessive nail dysplasia

Isolated Oligodontia Associated With Mutations in EDARADD, AXIN2, MSX1, and PAX9 Genes

Bergendal, Birgitta; Klar, Joakim; Stecksén-Blicks, Christina; Norderyd, Johanna et al.

Ingår i American Journal of Medical Genetics Part A, s. 1616-1622, 2011

• DOI för Isolated Oligodontia Associated With Mutations in EDARADD, AXIN2, MSX1, and PAX9 Genes

Report of a recurrent mutation in ARS (component B) gene with severe Mal de Meleda in a large consanguineous Pakistani family

Nawaz, Sadia; Tariq, Muhammad; Azhar, Aysha; Rasool, Mahmood et al.

Ingår i Pakistan journal of medical sciences print, s. 686-689, 2011

Untangling the Phenotypic Heterogeneity of Diamond Blackfan Anemia

Farrar, Jason E.; Dahl, Niklas

Ingår i Seminars in hematology (Print), s. 124-135, 2011

• DOI för Untangling the Phenotypic Heterogeneity of Diamond Blackfan Anemia

5'UTR Variants of Ribosomal Protein S19 Transcript Determine Translational Efficiency: Implications for Diamond-Blackfan Anemia and Tissue Variability.

Badhai, Jitendra; Schuster, Jens; Gidlöf, Olof; Dahl, Niklas

Ingår i PLOS ONE, 2011

• DOI för 5'UTR Variants of Ribosomal Protein S19 Transcript Determine Translational Efficiency: Implications for Diamond-Blackfan Anemia and Tissue Variability.

Clinical utility gene card for: Diamond Blackfan anemia

Vlachos, Adrianna; Dahl, Niklas; Dianzani, Irma; Lipton, Jeffrey M.

Ingår i European Journal of Human Genetics, 2011

• DOI för Clinical utility gene card for: Diamond Blackfan anemia

Re-evaluation of the dysequilibrium syndrome

Melberg, Atle; Örlén, Hanna; Raininko, Raili; Entesarian, Miriam et al.

Ingår i Acta Neurologica Scandinavica, s. 28-33, 2011

• DOI för Re-evaluation of the dysequilibrium syndrome

Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms

Schuster, Jens; Sundblom, Jimmy; Thuresson, Ann-Charlotte; Hassin-Baer, Sharon et al.

Ingår i Neurogenetics, s. 65-72, 2011

• DOI för Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms

Ribosomal protein S19 binds to its own mRNA with reduced affinity in Diamond-Blackfan anemia

Schuster, Jens; Fröjmark, Anne-Sophie; Nilsson, Per; Badhai, Jitendra et al.

Ingår i Blood Cells, Molecules & Diseases, s. 23-28, 2010

• DOI för Ribosomal protein S19 binds to its own mRNA with reduced affinity in Diamond-Blackfan anemia

Somatic Mosaicism for Chromosome X and Y Aneuploidies in Monozygotic Twins Heterozygous for Sickle Cell Disease Mutation

Razzaghian, Hamid Reza; Shahi, Mehdi Hayat; Forsberg, Lars A.; Diaz de Ståhl, Teresita et al.

Ingår i American Journal of Medical Genetics. Part A, s. 2595-2598, 2010

• DOI för Somatic Mosaicism for Chromosome X and Y Aneuploidies in Monozygotic Twins Heterozygous for Sickle Cell Disease Mutation

Cooperative effect of ribosomal protein s19 and Pim-1 kinase on murine c-Myc expression and myeloid/erythroid cellularity

Fröjmark, Anne-Sophie; Badhai, Jitendra; Klar, Joakim; Thuveson, Maria et al.

Ingår i Journal of Molecular Medicine, s. 39-46, 2010

• DOI för Cooperative effect of ribosomal protein s19 and Pim-1 kinase on murine c-Myc expression and myeloid/erythroid cellularity

Down-regulation of progesterone receptor membrane component 1 (PGRMC1) in peripheral nucleated blood cells associated with premature ovarian failure (POF) and polycystic ovary syndrome (PCOS)

Schuster, Jens; Karlsson, Teresia; Karlström, Per-Olof; Poromaa, Inger Sundström et al.

Ingår i Reproductive Biology and Endocrinology, s. 58, 2010

• DOI för Down-regulation of progesterone receptor membrane component 1 (PGRMC1) in peripheral nucleated blood cells associated with premature ovarian failure (POF) and polycystic ovary syndrome (PCOS)

A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis

Dahlqvist, Johanna; Klar, Joakim; Tiwari, Neha; Schuster, Jens et al.

Ingår i American Journal of Human Genetics, s. 596-603, 2010

• DOI för A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis

The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update

Boria, Ilenia; Garelli, Emanuela; Gazda, Hanna T.; Aspesi, Anna et al.

Ingår i Human Mutation, s. 1269-1279, 2010

• DOI för The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update

Familiar Meniere's disease restricted to 1.48 Mb on chromosome 12p12.3 by allelic and haplotype association

Gabriková, Dana; Frykholm, Carina; Friberg, Ulla; Lahsaee, Sara et al.

Ingår i Journal of Human Genetics, s. 834-837, 2010

• DOI för Familiar Meniere's disease restricted to 1.48 Mb on chromosome 12p12.3 by allelic and haplotype association

A Missense Mutation in the Aggrecan C-type Lectin Domain Disrupts Extracellular Matrix Interactions and Causes Dominant Familial Osteochondritis Dissecans

Stattin, Eva-Lena; Wiklund, Fredrik; Lindblom, Karin; Önnerfjord, Patrik et al.

Ingår i American Journal of Human Genetics, s. 126-137, 2010

• DOI för A Missense Mutation in the Aggrecan C-type Lectin Domain Disrupts Extracellular Matrix Interactions and Causes Dominant Familial Osteochondritis Dissecans

Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers

Sundblom, Jimmy; Stålberg, Erik; Österdahl, Maria; Rücker, Franz et al.

Ingår i Muscle and Nerve, s. 751-757, 2010

• DOI för Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers

Screening for Copy Number Alterations in Loci Associated With Autism Spectrum Disorders by Two-Color Multiplex Ligation-Dependent Probe Amplification

Bremer, Anna; Giacobini, MaiBritt; Nordenskjold, Magnus; Brondum-Nielsen, Karen et al.

Ingår i American journal of medical genetics. Part B, Neuropsychiatric genetics, s. 280-285, 2010

• DOI för Screening for Copy Number Alterations in Loci Associated With Autism Spectrum Disorders by Two-Color Multiplex Ligation-Dependent Probe Amplification

Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation

Rasool, Mahmood; Nawaz, Sadia; Azhar, Aysha; Wajid, Muhammad et al.

Ingår i EJD. European journal of dermatology, s. 443-446, 2010

• DOI för Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation

Segmentella DNA-variationer driver genomets evolution. Ger nya infallsvinklar till förståelse av sjukdom och hälsa: [Segmental DNA variations impel the genome evolution. New approaches to the understanding of disease and health]

Dahl, Niklas

Ingår i Läkartidningen, s. 1138-1139, 2010

A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent in the Swedish population

Entesarian, Miriam; Carlsson, Birgit; Mansouri, Mahmoud Reza; Stattin, Eva-Lena et al.

Ingår i American Journal of Medical Genetics, s. 380-386, 2009

• DOI för A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent in the Swedish population
• Ladda ner fulltext (pdf) av A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent in the Swedish population

A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent in the Swedish population

Entesarian, Miriam; Carlsson, Birgit; Mansouri, Mahmoud Reza; Stattin, Eva-Lena et al.

Ingår i American Journal of Medical Genetics, s. 380-386, 2009

• DOI för A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent in the Swedish population
• Ladda ner fulltext (pdf) av A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent in the Swedish population

Posttranscriptional down-regulation of small ribosomal subunit proteinscorrelates with reduction of 18S rRNA in RPS19 deficiency

Badhai, Jitendra; Fröjmark, Anne-Sophie; Razzaghian, Hamid Reza; Davey, Edward et al.

Ingår i FEBS Letters, s. 2049-2053, 2009

• DOI för Posttranscriptional down-regulation of small ribosomal subunit proteinscorrelates with reduction of 18S rRNA in RPS19 deficiency
• Ladda ner fulltext (pdf) av Posttranscriptional down-regulation of small ribosomal subunit proteinscorrelates with reduction of 18S rRNA in RPS19 deficiency

Targeted Resequencing and Analysis of the Diamond-Blackfan Anemia Disease Locus RPS19

Barrio, Alvaro Martinez; Eriksson, Oskar; Badhai, Jitendra; Fröjmark, Anne-Sophie et al.

Ingår i PLoS ONE, 2009

• DOI för Targeted Resequencing and Analysis of the Diamond-Blackfan Anemia Disease Locus RPS19
• Ladda ner fulltext (pdf) av Targeted Resequencing and Analysis of the Diamond-Blackfan Anemia Disease Locus RPS19

Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome

Klar, Joakim; Schweiger, Martina; Zimmerman, Robert; Zechner, Rudolf et al.

Ingår i American Journal of Human Genetics, s. 248-253, 2009

• DOI för Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome

WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome

Nawaz, Sadia; Klar, Joakim; Wajid, Muhammad; Aslam, Muhammad et al.

Ingår i European Journal of Human Genetics, s. 1600-1605, 2009

• DOI för WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome

SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration

Örlén, Hanna; Melberg, Atle; Raininko, Raili; Kumlien, Eva et al.

Ingår i American Journal of Medical Genetics Part B, s. 984-992, 2009

• DOI för SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration

Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene

Stattin, Eva-Lena; Lindén, Bjarne; Lönnerholm, Torsten; Schuster, Jens et al.

Ingår i European Journal of Medical Genetics, s. 297-302, 2009

• DOI för Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene

Multiple epiphyseal dysplasia: A clinical and genetic study of 12 cases in a Swedish 6-generation family

Dahlqvist, Johanna; Orlén, Hanna; Matsson, Hans; Dahl, Niklas et al.

Ingår i Acta Orthopaedica, s. 711-715, 2009

• DOI för Multiple epiphyseal dysplasia: A clinical and genetic study of 12 cases in a Swedish 6-generation family

N(alpha)-tosyl-L-phenylalanine chloromethyl ketone induces caspase-dependent apoptosis in transformed human B cell lines with transcriptional down-regulation of anti-apoptotic HS1-associated protein X-1

Jitkaew, Siriporn; Trebinska, Alicja; Grzybowska, Ewa; Carlsson, Göran et al.

Ingår i Journal of Biological Chemistry, s. 27827-27837, 2009

• DOI för N(alpha)-tosyl-L-phenylalanine chloromethyl ketone induces caspase-dependent apoptosis in transformed human B cell lines with transcriptional down-regulation of anti-apoptotic HS1-associated protein X-1

Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia

Badhai, Jitendra; Fröjmark, Anne-Sophie; Davey, Edward J.; Schuster, Jens et al.

Ingår i Biochimica et Biophysica Acta, s. 1036-1042, 2009

• DOI för Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia

Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities

Carlsson, Göran; Elinder, Göran; Malmgren, Helena; Trebinska, Alicja et al.

Ingår i Pediatric Blood & Cancer, s. 1143-1146, 2009

• DOI för Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities

A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia

Rasool, Mahmood; Schuster, Jens; Aslam, Muhammad; Tariq, Muhammad et al.

Ingår i Journal of Human Genetics, s. 894-8, 2008

• DOI för A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia

Duchenne muscular dystrophy and idiopathic hyperCKemia in the same family

Eeg-Olofsson, Orvar; Kalimo, Hannu; Eeg-Olofsson, Karin Edebol; Jagell, Sten et al.

Ingår i European journal of paediatric neurology, s. 404-7, 2008

• DOI för Duchenne muscular dystrophy and idiopathic hyperCKemia in the same family

Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure

Mansouri, Mahmoud Reza; Schuster, Jens; Badhai, Jitendra; Stattin, Eva-Lena et al.

Ingår i Human molecular genetics, s. 3776-83, 2008

• DOI för Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure

Alpha-cardiac actin mutations produce atrial septal defects

Matsson, Hans; Eason, Jacqueline; Bookwalter, Carol S.; Klar, Joakim et al.

Ingår i Human Molecular Genetics, s. 256-265, 2008

• DOI för Alpha-cardiac actin mutations produce atrial septal defects

Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature

Stattin, Eva-Lena; Tegner, Y.; Domellöf, M.; Dahl, Niklas

Ingår i Osteoarthritis and Cartilage, s. 890-6, 2008

• DOI för Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature

Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations

Carlsson, G; van't Hooft, I; Melin, M; Entesarian, M et al.

Ingår i Journal of Internal Medicine, s. 388-400, 2008

• DOI för Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations

Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis

Dahlqvist, Johanna; Klar, Joakim; Hausser, I; Anton-Lamprecht, I et al.

Ingår i Journal of Medical Genetics, s. 615-620, 2007

• DOI för Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

Klein, Christoph; Grudzien, Magda; Appaswamy, Giridharan; Germeshausen, Manuela et al.

Ingår i Nature Genetics, s. 86-92, 2007

• DOI för HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden

Melin, Malin; Entesarian, Miriam; Carlsson, G.; Garwicz, Daniel et al.

Ingår i Biochemical and Biophysical Research Communications - BBRC, s. 571-575, 2007

• DOI för Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden

FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG)

Entesarian, Miriam; Dahlqvist, Johanna; Shashi, Vandana; Stanley, Christy S. et al.

Ingår i European Journal of Human Genetics, s. 379-382, 2007

• DOI för FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG)

Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH

Mantripragada, Kiran K; Thuresson, Ann-Charlotte; Piotrowski, Arek; Diaz De Ståhl, Teresita et al.

Ingår i Journal of Medical Genetics, s. 28-38, 2006

• DOI för Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH

Erythropoiesis in the Rps19 disrupted mouse: Analysis of erythropoietin response and biochemical markers for Diamond-Blackfan anemia.

Matsson, H; Davey, EJ; Frojmark, AS; Miyake, K et al.

Ingår i Blood Cells Mol Dis, s. 259-264, 2006

• DOI för Erythropoiesis in the Rps19 disrupted mouse: Analysis of erythropoietin response and biochemical markers for Diamond-Blackfan anemia.

Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2

Schatz, Patrik; Klar, Joakim; Andréasson, Sten; Ponjavic, Vesna et al.

Ingår i Ophthalmic Genetics, s. 51-56, 2006

• DOI för Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2

A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association

Melin, Malin; Klar, Joakim; Gedde-Dahl Jr., T.; Fredriksson, Robert et al.

Ingår i Journal of Human Genetics, s. 864-871, 2006

• DOI för A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association

Familial Meniere's disease in five generations

Frykholm, Carina; Larsen, Hans-Christian; Dahl, Niklas; Klar, Joakim et al.

Ingår i Otology and Neurotology, s. 681-686, 2006

• DOI för Familial Meniere's disease in five generations

Molecular genetic analysis of a de novo balanced translocation t(6;17) (p21.31;q11.2) associated with hypospadias and anorectal malformation

Mansouri, Mahmoud Reza; Carlsson, Birgit; Davey, Edward; Nordenskjöld, Agneta et al.

Ingår i Human Genetics, s. 162-168, 2006

• DOI för Molecular genetic analysis of a de novo balanced translocation t(6;17) (p21.31;q11.2) associated with hypospadias and anorectal malformation

A Meniere's disease gene linked to chromosome 12p12.3.

Klar, Joakim; Frykholm, Carina; Friberg, Ulla; Dahl, Niklas

Ingår i American Journal of Medical Genetics Part B, s. 463-467, 2006

• DOI för A Meniere's disease gene linked to chromosome 12p12.3.

Constitutional downregulation of SEMA5A expression in autism

Melin, Malin; Carlsson, B.; Anckarsäter, H.; Råstam, M. et al.

Ingår i Neuropsychobiology, s. 64-69, 2006

• DOI för Constitutional downregulation of SEMA5A expression in autism

Adult-onset autosomal dominant leukodystrophy with autonomic symptoms restricted to 1.5 Mbp on chromosome 5q23

Marklund, Lena; Melin, Malin; Melberg, Atle; Giedraitis, Vilmantas et al.

Ingår i American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, s. 608-614, 2006

• DOI för Adult-onset autosomal dominant leukodystrophy with autonomic symptoms restricted to 1.5 Mbp on chromosome 5q23

Hemizygosity for chromosome 2q14.2-q22.1 spanning the GLI2 and PROC genes associated with growth hormone deficiency, polydactyly, deep vein thrombosis and urogenital abnormalities.

Gustavsson, P; Schoumans, J; Staaf, J; Jönsson, G et al.

Ingår i Clin Genet, s. 441-3, 2006

Deficiency of ribosomal protein S19 in CD34+ cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia

Flygare, Johan; Kiefer, Thomas; Miyake, Koichi; Utsugisawa, Taiju et al.

Ingår i Blood, s. 4627-4634, 2005

• DOI för Deficiency of ribosomal protein S19 in CD34+ cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia

Mutations in the gene encoding fibroblast growth factor 10 are associated with

Entesarian, Miriam; Matsson, Hans; Klar, Joakim; Bergendal, Birgitta et al.

Ingår i Nat Genet, s. 125-7, 2005

Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation

Mansouri, Mahmoud Reza; Marklund, Lena; Gustavsson, Peter; Davey, Edward et al.

Ingår i European Journal of Human Genetics, s. 970-977, 2005

• DOI för Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation

RAR-related orphan receptor A isoform 1 (RORa1) is disrupted by a balanced translocation t(4;15)(q22.3;q21.3) associated with severe obesity.

Klar, Joakim; Åsling, Bengt; Carlsson, Birgit; Ulvsbäck, Magnus et al.

Ingår i Eur J Hum Genet, 2005

Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein.

Chiocchetti, Annalisa; Gibello, Luisa; Carando, Adriana; Aspesi, Anna et al.

Ingår i Haematologica, s. 1453-62, 2005

Variability in noise susceptibility in a Swedish population: The role of 35delG mutation in the connexin 26 (GJB2) gene

Carlsson, Per-Inge; Borg, Erik; Grip, Lars; Dahl, Niklas et al.

Ingår i Audiological Medicine, s. 123-130, 2004

• DOI för Variability in noise susceptibility in a Swedish population: The role of 35delG mutation in the connexin 26 (GJB2) gene

Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13.

Klar, Joakim; Gedde-Dahl Jr, Tobias; Larsson, Malin; Pigg, Maritta et al.

Ingår i J Med Genet, s. 208-12, 2004

Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation.

Matsson, Hans; Davey, Edward J; Draptchinskaia, Natalia; Hamaguchi, Isao et al.

Ingår i Mol Cell Biol, s. 4032-7, 2004

Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene

Dianzani, Irma; Garelli, E.; Gustavsson, P.; Carando, A. et al.

Ingår i Journal of Medical Genetics, 2003

• DOI för Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene

Autosomal recessive congenital ichthyosis in Sweden and Estonia: clinical, genetic and ultrastructural findings in eithty-three patients

Gånemo, Agneta; Pigg, Maritta; Virtanen, Marie; Kukk, Terje et al.

Ingår i Acta Dermato-Venereologica, s. 24-30, 2003

Familial transient erythroblastopenia of childhood is associated with the chromosome

Gustavsson, Peter; Klar, Joakim; Matsson, Hans; Forestier, Erik et al.

Ingår i Br J Haematol, s. 261-4, 2002

A balanced reciprocal translocation t(5;7)(q14;q32) associated with autistic disorder: molecular analysis of the chromosome 7 breakpoint

Tentler, Dmitry; Brandberg, Göran; Betancur, Catalina; Gillberg, Christopher et al.

Ingår i American Journal of Medical Genetics, s. 729-36, 2001

• DOI för A balanced reciprocal translocation t(5;7)(q14;q32) associated with autistic disorder: molecular analysis of the chromosome 7 breakpoint

A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome

Tentler, Dmitry; Gustavsson, Peter; Elinder, Göran; Eklöf, Ole et al.

Ingår i Journal of Medical Genetics, s. 128-131, 2000

• DOI för A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome

Audiometric Characterization of a Family with Digenic Autosomal, Dominant, Progressive Sensorineural Hearing Loss

Borg, Erik; Samuelsson, Eva; Dahl, Niklas

Ingår i Acta Oto-Laryngologica, s. 51-57, 2000

• DOI för Audiometric Characterization of a Family with Digenic Autosomal, Dominant, Progressive Sensorineural Hearing Loss

Haplotype association and mutation analysis of the transglutaminase 1 gene for prenatal exclusion of lamellar ichthyosis

Pigg, Maritta; Gedde-Dahl, Tobias; Cox, Diane W.; Haugen, Guttorm et al.

Ingår i Prenatal Diagnosis, s. 132-7, 2000

Charcot-Marie-Tooth Disease With Cerebellar Atrophy

Melberg, Atle; Raininko, Raili; Dahl, Niklas; Olsson, Yngve et al.

Ingår i Journal of Clinical Neuromuscular Disease, s. 24-26, 2000

Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor

Carling, Tobias; Szabo, Eva; Bai, Mei; Ridefelt, Peter et al.

Ingår i Journal of Clinical Endocrinology and Metabolism, s. 2042-7, 2000

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

Draptchinskaia, Natalia; Gustavsson, Peter; Andersson, Björn; Pettersson, Monica et al.

Ingår i Nature Genetics, s. 169-75, 1999

• DOI för The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia

Matsson, Hans; Klar, Joakim; Draptchinskaia, Natalia; Gustavsson, Peter et al.

Ingår i Human Genetics, s. 496-500, 1999

• DOI för Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia

The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease

Maugeri, A.; van Driel, M.A.; van de Pol, D.J.; Klevering, B.J. et al.

Ingår i American Journal of Human Genetics, s. 1024-35, 1999

Diamond-Blackfan anaemia in the Italian population

Ramenghi, U.; Garelli, E.; Valtolina, S.; Campagnoli, M.F. et al.

Ingår i British Journal of Haematology, s. 841-8, 1999

• DOI för Diamond-Blackfan anaemia in the Italian population

Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia

Tentler, D.; Gustavsson, P.; Leisti, J.; Schueler, M. et al.

Ingår i European Journal of Human Genetics, s. 541-8, 1999

A microdeletion syndrome due to a 3-Mb deletion on 19q13.2--Diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation

Cario, Holger; Bode, H.; Gustavsson, P.; Dahl, Niklas et al.

Ingår i Clinical Genetics, s. 487-92, 1999

• DOI för A microdeletion syndrome due to a 3-Mb deletion on 19q13.2--Diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes

Cossee, Mireille; Durr, Alexandra; Schmitt, Michèle; Dahl, Niklas et al.

Ingår i Annals of Neurology, s. 200-206, 1999

• DOI för Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes

Alpha-tectorin involvement in hearing disabilities: One gene-two phenotypes

Balciuniene, Jorune; Dahl, Niklas; Jalonen, Paula; Verhoeven, Kristien et al.

Ingår i Human Genetics, s. 211-216, 1999

• DOI för Alpha-tectorin involvement in hearing disabilities: One gene-two phenotypes

Neuroimaging study in autosomal dominant cerebellar ataxia, deafness, and narcolepsy

Melberg, Atle; Dahl, Niklas; Hetta, Jerker; Valind, S. et al.

Ingår i Neurology, s. 2190-2, 1999

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q.

Melberg, A; Oldfors, A; Blomström-Lundqvist, C; Stålberg, E et al.

Ingår i Ann Neurol, s. 684-92, 1999

Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family

Balciuniene, Jorune; Dahl, Niklas; Borg, Erik; Samuelsson, Eva et al.

Ingår i American Journal of Human Genetics, s. 786-93, 1998

• DOI för Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family

Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway

Pigg, Maritta; Gedde-Dahl Jr, Tobias; Cox, Diane; Hausser, Ingrid et al.

Ingår i European Journal of Human Genetics, s. 589-96, 1998

Stargardt disease: linkage to the ABCR gene region on 1p21-p22 in Scandinavian families

Arnell, Henrik; Mäntyjärvi, Maija; Tuppurainen, Kaija; Andreasson, Sten et al.

Ingår i Acta Ophthalmologica Scandinavica, s. 649-52, 1998

• DOI för Stargardt disease: linkage to the ABCR gene region on 1p21-p22 in Scandinavian families

High adenosine deaminase level among healthy probands of Diamond Blackfan anemia (DBA) cosegregates with the DBA gene region on chromosome 19q13. The DBA Working Group of Société d'Immunologie Pédiatrique (SHIP)

Willig, T.N.; Pérignon, J.L.; Gustavsson, P.; Gane, P. et al.

Ingår i Blood, s. 4422-7, 1998

The genetics of primary nocturnal enuresis: inheritance and suggestion of a second major gene on chromosome 12q

Arnell, Henrik; Hjalmas, Kelm; Jagervall, Martin; Läckgren, Göran et al.

Ingår i Journal of Medical Genetics, s. 360-5, 1997

• DOI för The genetics of primary nocturnal enuresis: inheritance and suggestion of a second major gene on chromosome 12q

Progressive familial intrahepatic cholestasis (PFIC): evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21-q22

Arnell, Henrik; Nemeth, Antal; Annerén, Göran; Dahl, Niklas

Ingår i Human Genetics, s. 378-381, 1997

• DOI för Progressive familial intrahepatic cholestasis (PFIC): evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21-q22

Glycerol kinase deficiency in two brothers with and without clinical manifestations

Blomquist, H. K:son; Dahl, Niklas; Gustafsson, L.; Hellerud, C. et al.

Ingår i Clinical Genetics, s. 375-9, 1996

Genetic homogeneity of autoimmune polyglandular disease type I

Björses, P; Aaltonen, J; Vikman, A; Perheentupa, J et al.

Ingår i Am J Hum Genet, s. 879-886, 1996

New connexin32 muations associated with X-linked Charcot-Marie-Tooth disease

Bone, L.; Dahl, Niklas; Lensch, M.; Chance, P. et al.

Ingår i Neurology, s. 1863-6, 1995

Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome

Bondeson, Marie-Louise; Dahl, Niklas; Malmgren, Helena; Kleijer, Wim J. et al.

Ingår i Human Molecular Genetics, s. 615-621, 1995

Presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome

Bondeson, Marie-Louise; Malmgren, Helena; Dahl, Niklas; Carlberg, Britt-Marie et al.

Ingår i European Journal of Human Genetics, s. 219-227, 1995

Asperger syndrome in a boy with a balanced de novo translocation: t(17;19)(p13.3;p11)

Annerén, Göran; Dahl, Niklas; Uddenfeldt, Ulrika; Janols, Lars-Olof

Ingår i American Journal of Medical Genetics, s. 330-1, 1995

• DOI för Asperger syndrome in a boy with a balanced de novo translocation: t(17;19)(p13.3;p11)

Frequency of four cystic fibrosis mutations in a Swedish population

Dahl, Niklas; Grandell, U.; Martinsson, T.; Allen, Marie et al.

Ingår i Acta Paediatrica, s. 609, 1993

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

Vlachos, Adrianna; Ball, Sarah; Dahl, Niklas; Alter, Blanche P. et al.

Ingår i British Journal of Haematology, s. 859-876, 2008

• DOI för Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in severe congenital neutropenia

Carlsson, Göran; Melin, Malin; Dahl, Niklas; Ramme, Kim Göransdotter et al.

Ingår i Acta Paediatrica, s. 813-819, 2007

• DOI för Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in severe congenital neutropenia

Differential expression of RPS19 5’UTR variants implicated in Diamond-Blackfan anemia

Badhai, Jitendra; Fröjmark, Anne-Sophie; Gidlöf, Olof; Schuster, Jens et al.

2012

A Meniere’s disease gene maps to a 463 kb region on chromosome 12p12.3

Klar, Joakim; Frykholm, Carina; Friberg, Ulla; Dahl, Niklas