Jan Dumanski

Beyond tumors: uninvolved breast tissue of breast cancer patients with adverse prognoses is enriched for pathogenic PIK3CA and TP53 post-zygotic variants

Andreou, Maria; Chojnowska, Katarzyna; Filipowicz, Natalia; Horbacz, Monika et al.

Ingår i BMC Cancer, 2026

• DOI för Beyond tumors: uninvolved breast tissue of breast cancer patients with adverse prognoses is enriched for pathogenic PIK3CA and TP53 post-zygotic variants
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The effect of cold ischemia time on hypoxia, EMT, and apoptosis pathways in normal colon mucosa

Duzowska, Katarzyna; Opielka, Mikolaj; Drezek-Chyla, Kinga; Kostecka, Anna et al.

Ingår i PLOS ONE, 2026

• DOI för The effect of cold ischemia time on hypoxia, EMT, and apoptosis pathways in normal colon mucosa
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Loss of Y chromosome in Alzheimer's patients co-occurs with somatic mutations beyond CHIP drivers

Rychlicka-Buniowska, Edyta; Sarkisyan, Daniil; Horbacz, Monika; Bruhn-Olszewska, Bożena et al.

Ingår i Life Science Alliance, 2025

• DOI för Loss of Y chromosome in Alzheimer's patients co-occurs with somatic mutations beyond CHIP drivers
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A denaturation-free protocol for in situ visualization of short nuclear DNA sequences using padlock probes with rolling-circle amplification

Ikebuchi, Ryoyo; Lu, Xi; Bouri, Dimitra; Svintytska, Valeriia et al.

Ingår i PLOS ONE, 2025

• DOI för A denaturation-free protocol for in situ visualization of short nuclear DNA sequences using padlock probes with rolling-circle amplification
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The effects of loss of Y chromosome on male health

Bruhn-Olszewska, Bożena; Markljung, Ellen; Rychlicka-Buniowska, Edyta; Sarkisyan, Daniil et al.

Ingår i Nature reviews genetics, s. 320-335, 2025

• DOI för The effects of loss of Y chromosome on male health

Beyond tumors: uninvolved breast tissue of breast cancer patients with adverse prognoses is enriched for pathogenic PIK3CA and TP53 post-zygotic variants

Andreou, Maria; Chojnowska, Katarzyna; Filipowicz, Natalia; Horbacz, Monika et al.

Ingår i BMC Cancer, 2026

• DOI för Beyond tumors: uninvolved breast tissue of breast cancer patients with adverse prognoses is enriched for pathogenic PIK3CA and TP53 post-zygotic variants
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The effect of cold ischemia time on hypoxia, EMT, and apoptosis pathways in normal colon mucosa

Duzowska, Katarzyna; Opielka, Mikolaj; Drezek-Chyla, Kinga; Kostecka, Anna et al.

Ingår i PLOS ONE, 2026

• DOI för The effect of cold ischemia time on hypoxia, EMT, and apoptosis pathways in normal colon mucosa
• Ladda ner fulltext (pdf) av The effect of cold ischemia time on hypoxia, EMT, and apoptosis pathways in normal colon mucosa

Loss of Y chromosome in Alzheimer's patients co-occurs with somatic mutations beyond CHIP drivers

Rychlicka-Buniowska, Edyta; Sarkisyan, Daniil; Horbacz, Monika; Bruhn-Olszewska, Bożena et al.

Ingår i Life Science Alliance, 2025

• DOI för Loss of Y chromosome in Alzheimer's patients co-occurs with somatic mutations beyond CHIP drivers
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A denaturation-free protocol for in situ visualization of short nuclear DNA sequences using padlock probes with rolling-circle amplification

Ikebuchi, Ryoyo; Lu, Xi; Bouri, Dimitra; Svintytska, Valeriia et al.

Ingår i PLOS ONE, 2025

• DOI för A denaturation-free protocol for in situ visualization of short nuclear DNA sequences using padlock probes with rolling-circle amplification
• Ladda ner fulltext (pdf) av A denaturation-free protocol for in situ visualization of short nuclear DNA sequences using padlock probes with rolling-circle amplification

Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations

Horbacz, Monika; Koczkowska, Magdalena; Roclawski, Marek; Ceynowa, Marcin et al.

Ingår i Frontiers in Medicine, 2025

• DOI för Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations
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DNA methylation patterns contribute to changes of cellular differentiation pathways in leukocytes with LOY from patients with Alzheimers disease

Jakalski, Marcin; Bruhn-Olszewska, Bożena; Rychlicka-Buniowska, Edyta; Davies, Hanna et al.

Ingår i Cellular and Molecular Life Sciences (CMLS), 2025

• DOI för DNA methylation patterns contribute to changes of cellular differentiation pathways in leukocytes with LOY from patients with Alzheimers disease
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Prelude to malignancy: A gene expression signature in normal mammary gland from breast cancer patients suggests pre-tumorous alterations and is associated with adverse outcomes

Andreou, Maria; Jąkalski, Marcin; Duzowska, Katarzyna; Filipowicz, Natalia et al.

Ingår i International Journal of Cancer, s. 1616-1628, 2024

• DOI för Prelude to malignancy: A gene expression signature in normal mammary gland from breast cancer patients suggests pre-tumorous alterations and is associated with adverse outcomes
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Tumor Predisposing Post-Zygotic Chromosomal Alterations in Bladder Cancer-Insights from Histologically Normal Urothelium

Stankowska, Wiktoria; Sarkisyan, Daniil; Bruhn-Olszewska, Bozena; Duzowska, Katarzyna et al.

Ingår i Cancers, 2024

• DOI för Tumor Predisposing Post-Zygotic Chromosomal Alterations in Bladder Cancer-Insights from Histologically Normal Urothelium
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Loss of Y in regulatory T lymphocytes in the tumor micro-environment of primary colorectal cancers and liver metastases

Wójcik, Magdalena; Juhas, Ulana; Mohammadi, Elyas; Mattisson, Jonas et al.

Ingår i Scientific Reports, 2024

• DOI för Loss of Y in regulatory T lymphocytes in the tumor micro-environment of primary colorectal cancers and liver metastases
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Loss of chromosome Y in regulatory T cells

Mattisson, Jonas; Halvardson, Jonatan; Davies, Hanna; Bruhn-Olszewska, Bozena et al.

Ingår i BMC Genomics, 2024

• DOI för Loss of chromosome Y in regulatory T cells
• Ladda ner fulltext (pdf) av Loss of chromosome Y in regulatory T cells

Mass Spectrometry Proteomics Characterization of Plasma Biomarkers for Colorectal Cancer Associated With Inflammation

Urbiola-Salvador, Victor; Jablonska, Agnieszka; Miroszewska, Dominika; Kamysz, Weronika et al.

Ingår i Biomarker Insights, 2024

• DOI för Mass Spectrometry Proteomics Characterization of Plasma Biomarkers for Colorectal Cancer Associated With Inflammation
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Mosaic Loss of Chromosome Y Is Associated With Functional Outcome After Ischemic Stroke

Dorvall, Malin; Pedersen, Annie; Dumanski, Jan P.; Söderholm, Martin et al.

Ingår i Stroke, s. 2434-2437, 2023

• DOI för Mosaic Loss of Chromosome Y Is Associated With Functional Outcome After Ischemic Stroke
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Size matters: the impact of nucleus size on results from spatial transcriptomics

Mohammadi, Elyas; Chojnowska, Katarzyna; Bienkowski, Michal; Kostecka, Anna et al.

Ingår i Journal of Translational Medicine, 2023

• DOI för Size matters: the impact of nucleus size on results from spatial transcriptomics
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Plasma protein changes reflect colorectal cancer development and associated inflammation

Urbiola-Salvador, Victor; Jablonska, Agnieszka; Miroszewska, Dominika; Huang, Qianru et al.

Ingår i Frontiers in Oncology, 2023

• DOI för Plasma protein changes reflect colorectal cancer development and associated inflammation
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Personalized health risk assessment based on single-cell RNA sequencing analysis of a male with 45, X/48, XYYY karyotype

Koczkowska, Magdalena; Jakalski, Marcin; Birkholz-Walerzak, Dorota; Kostecka, Anna et al.

Ingår i Scientific Reports, 2022

• DOI för Personalized health risk assessment based on single-cell RNA sequencing analysis of a male with 45, X/48, XYYY karyotype
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Loss of Y and clonal hematopoiesis in blood: two sides of the same coin?

Ljungström, Viktor; Mattisson, Jonas; Halvardson, Jonatan; Pandzic, Tatjana et al.

Ingår i Leukemia, s. 889-891, 2022

• DOI för Loss of Y and clonal hematopoiesis in blood: two sides of the same coin?
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Loss of Y in leukocytes as a risk factor for critical COVID-19 in men

Bruhn-Olszewska, Bozena; Davies, Hanna; Sarkisyan, Daniil; Juhas, Ulana et al.

Ingår i Genome Medicine, 2022

• DOI för Loss of Y in leukocytes as a risk factor for critical COVID-19 in men
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High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing

Kostecka, Anna; Nowikiewicz, Tomasz; Olszewski, Pawel; Koczkowska, Magdalena et al.

Ingår i npj Breast Cancer, 2022

• DOI för High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing
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Comprehensive cancer-oriented biobanking resource of human samples for studies of post-zygotic genetic variation involved in cancer predisposition

Filipowicz, Natalia; Drezek, Kinga; Horbacz, Monika; Wojdak, Agata et al.

Ingår i PLOS ONE, 2022

• DOI för Comprehensive cancer-oriented biobanking resource of human samples for studies of post-zygotic genetic variation involved in cancer predisposition
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Leukocytes with chromosome Y loss have reduced abundance of the cell surface immunoprotein CD99

Mattisson, Jonas; Danielsson, Marcus; Hammond, Maria; Davies, Hanna et al.

Ingår i Scientific Reports, 2021

• DOI för Leukocytes with chromosome Y loss have reduced abundance of the cell surface immunoprotein CD99
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Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications

Rydzanicz, Malgorzata; Olszewski, Pawel; Kedra, Darek; Davies, Hanna et al.

Ingår i Molecular Genetics & Genomic Medicine, 2021

• DOI för Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications
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Immune cells lacking Y chromosome show dysregulation of autosomal gene expression

Dumanski, Jan P.; Halvardson, Jonatan; Davies, Hanna; Rychlicka-Buniowska, Edyta et al.

Ingår i Cellular and Molecular Life Sciences (CMLS), s. 4019-4033, 2021

• DOI för Immune cells lacking Y chromosome show dysregulation of autosomal gene expression
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Longitudinal changes in the frequency of mosaic chromosome Y loss in peripheral blood cells of aging men varies profoundly between individuals

Danielsson, Marcus; Halvardson, Jonatan; Davies, Hanna; Moghadam, Behrooz Torabi et al.

Ingår i European Journal of Human Genetics, s. 349-357, 2020

• DOI för Longitudinal changes in the frequency of mosaic chromosome Y loss in peripheral blood cells of aging men varies profoundly between individuals
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The Level Of Myeloid Derived-Suppressor Cells In Peripheral Blood Of Patients With Prostate Cancer After Various Types Of Therapy

Sieminska, Izabela; Rychlicka, Edyta; Jaszczynski, Janusz; Palaczynski, Mikolaj et al.

Ingår i Polish Journal of Pathology, s. 46-54, 2020

• DOI för The Level Of Myeloid Derived-Suppressor Cells In Peripheral Blood Of Patients With Prostate Cancer After Various Types Of Therapy
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PRR14L mutations are associated with chromosome 22 acquired uniparental disomy, age-related clonal hematopoiesis and myeloid neoplasia

Chase, Andrew; Pellagatti, Andrea; Singh, Shalini; Score, Joannah et al.

Ingår i Leukemia, s. 1184-1194, 2019

• DOI för PRR14L mutations are associated with chromosome 22 acquired uniparental disomy, age-related clonal hematopoiesis and myeloid neoplasia

Mosaic loss of chromosome Y in leukocytes matters

Forsberg, Lars A.; Halvardson, Jonatan; Rychlicka-Buniowska, Edyta; Danielsson, Marcus et al.

Ingår i Nature Genetics, s. 4-7, 2019

• DOI för Mosaic loss of chromosome Y in leukocytes matters

Genetic predisposition to mosaic Y chromosome loss in blood

Thompson, Deborah J; Genovese, Giulio; Halvardson, Jonatan; Ulirsch, Jacob C et al.

Ingår i Nature, s. 652-657, 2019

• DOI för Genetic predisposition to mosaic Y chromosome loss in blood

Loss of Chromosome Y in Leukocytes and Major Cardiovascular Events

Dumanski, Jan P.; Sundström, Johan; Forsberg, Lars A.

Ingår i Circulation, 2017

• DOI för Loss of Chromosome Y in Leukocytes and Major Cardiovascular Events

A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors

Dumanski, Jan P.; Rasi, Chiara; Björklund, Peyman; Davies, Hanna et al.

Ingår i Endocrine-Related Cancer, s. 427-443, 2017

• DOI för A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors
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Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease

Dumanski, Jan P.; Lambert, Jean-Charles; Rasi, Chiara; Giedraitis, Vilmantas et al.

Ingår i American Journal of Human Genetics, s. 1208-1219, 2016

• DOI för Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease
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Biobanking multifocal breast carcinomas: sample adequacy with regard to histology and DNA content

Pekar, Gyula; Davies, Hanna; Lukacs, Agnes P; Forsberg, Lars et al.

Ingår i Histopathology, s. 411-421, 2016

• DOI för Biobanking multifocal breast carcinomas: sample adequacy with regard to histology and DNA content

Mutagenesis: smoking is associated with mosaic loss of chromosome Y

Dumanski, Jan P.; Rasi, Chiara; Lönn, Mikael; Davies, Hanna et al.

Ingår i Science, s. 81-83, 2015

• DOI för Mutagenesis: smoking is associated with mosaic loss of chromosome Y

Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus

Chase, A.; Leung, W.; Tapper, W.; Jones, A. V. et al.

Ingår i Leukemia, s. 2069-2074, 2015

• DOI för Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus

Concurrent DNA Copy-Number Alterations and Mutations in Genes Related to Maintenance of Genome Stability in Uninvolved Mammary Glandular Tissue from Breast Cancer Patients

Ronowicz, Anna; Janaszak-Jasiecka, Anna; Skokowski, Jaroslaw; Madanecki, Piotr et al.

Ingår i Human Mutation, s. 1088-1099, 2015

• DOI för Concurrent DNA Copy-Number Alterations and Mutations in Genes Related to Maintenance of Genome Stability in Uninvolved Mammary Glandular Tissue from Breast Cancer Patients

Signatures of post-zygotic structural genetic aberrations in the cells of histologically normal breast tissue that can predispose to sporadic breast cancer

Forsberg, Lars A.; Rasi, Chiara; Pekar, Gyula; Davies, Hanna et al.

Ingår i Genome Research, s. 1521-1535, 2015

• DOI för Signatures of post-zygotic structural genetic aberrations in the cells of histologically normal breast tissue that can predispose to sporadic breast cancer
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Detection of leukemia-associated mutations in peripheral blood DNA of hematologically normal elderly individuals

Score, J.; Chase, A.; Forsberg, Lars; Feng, L. et al.

Ingår i Leukemia, s. 1600-1602, 2015

• DOI för Detection of leukemia-associated mutations in peripheral blood DNA of hematologically normal elderly individuals

Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer

Forsberg, Lars A.; Rasi, Chiara; Malmqvist, Niklas; Davies, Hanna et al.

Ingår i Nature Genetics, s. 624-628, 2014

• DOI för Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer

Post-Zygotic and Inter-Individual Structural Genetic Variation in a Presumptive Enhancer Element of the Locus between the IL10Rβ and IFNAR1 Genes

Razzaghian, Hamid Reza; Forsberg, Lars Anders; Prakash, Kancherla Reddy; Przerada, Szymon et al.

Ingår i PLOS ONE, 2013

• DOI för Post-Zygotic and Inter-Individual Structural Genetic Variation in a Presumptive Enhancer Element of the Locus between the IL10Rβ and IFNAR1 Genes
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Age dependence of tumor genetics in unfavorable neuroblastoma: arrayCGH profiles of 34 consecutive cases, using a Swedish 25-year neuroblastoma cohort for validation

Cetinkaya, Cihan; Martinsson, Tommy; Sandgren, Johanna; Trager, Catarina et al.

Ingår i BMC Cancer, s. 231, 2013

• DOI för Age dependence of tumor genetics in unfavorable neuroblastoma: arrayCGH profiles of 34 consecutive cases, using a Swedish 25-year neuroblastoma cohort for validation
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Age-related somatic structural changes in the nuclear genome of human blood cells

Forsberg, Lars A.; Rasi, Chiara; Razzaghian, Hamid R; Pakalapati, Geeta et al.

Ingår i American Journal of Human Genetics, s. 217-228, 2012

• DOI för Age-related somatic structural changes in the nuclear genome of human blood cells

Procoagulant activity in patients with sickle cell trait

Lawrie, Andrew S.; Pizzey, Arnold; Trompeter, Sara; Meiselman, Herbert et al.

Ingår i Blood Coagulation and Fibrinolysis, s. 268-270, 2012

• DOI för Procoagulant activity in patients with sickle cell trait

Common pathogenetic mechanism involving human chromosome 18 in familial and sporadic ileal carcinoid tumors

Cunningham, Janet L.; Díaz de Ståhl, Teresita; Sjöblom, Tobias; Westin, Gunnar et al.

Ingår i Genes, Chromosomes and Cancer, s. 82-94, 2011

• DOI för Common pathogenetic mechanism involving human chromosome 18 in familial and sporadic ileal carcinoid tumors

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

Recurrent genomic alterations in benign and malignant pheochromocytomas and paragangliomas revealed by whole-genome array-CGH analysis.

Sandgren, Johanna; Diaz de Ståhl, T; Andersson, R; Menzel, U et al.

Ingår i Endocrine-Related Cancer, s. 561-579, 2010

Recurrent genomic alterations in benign and malignant pheochromocytomas and paragangliomas revealed by whole-genome array comparative genomic hybridization analysis

Sandgren, Johanna; Diaz de Ståhl, Teresita; Andersson, Robin; Menzel, Uwe et al.

Ingår i Endocrine-Related Cancer, s. 561-579, 2010

• DOI för Recurrent genomic alterations in benign and malignant pheochromocytomas and paragangliomas revealed by whole-genome array comparative genomic hybridization analysis

Integrative epigenomic and genomic analysis of malignant pheochromocytoma

Sandgren, Johanna; Andersson, Robin; Rada-Iglesias, Alvaro; Enroth, Stefan et al.

Ingår i Experimental and Molecular Medicine, s. 484-502, 2010

• DOI för Integrative epigenomic and genomic analysis of malignant pheochromocytoma

Frequent genetic differences between matched primary and metastatic breast cancer provide an approach to identification of biomarkers for disease progression

Poplawski, Andrzej B.; Jankowski, Michal; Erickson, Stephen W.; de Ståhl, Teresita Díaz et al.

Ingår i European Journal of Human Genetics, s. 560-568, 2010

• DOI för Frequent genetic differences between matched primary and metastatic breast cancer provide an approach to identification of biomarkers for disease progression

Focal amplifications are associated with high grade and recurrences in stage Ta bladder carcinoma

Nord, Helena; Segersten, Ulrika; Sandgren, Johanna; Wester, Kenneth et al.

Ingår i International Journal of Cancer, s. 1390-1402, 2010

• DOI för Focal amplifications are associated with high grade and recurrences in stage Ta bladder carcinoma

Integrative epigenomic and genomic analysis of malignant pheochromocytoma.

Sandgren, Johanna; Andersson, A; Rada-Iglesias, A; Enroth, S et al.

Ingår i Experimental and Molecular Medicine, s. 484-502, 2010

Tissue-specific variation in DNA methylation levels along human chromosome 1

De Bustos, Cecilia; Ramos, Edward; Young, Janet M.; Tran, Robert K. et al.

Ingår i Epigenetics & Chromatin, s. 7, 2009

• DOI för Tissue-specific variation in DNA methylation levels along human chromosome 1

Characterization of novel and complex genomic aberrations in glioblastoma using a 32K BAC array

Nord, Helena; Hartmann, Christian; Andersson, Robin; Menzel, Uwe et al.

Ingår i Neuro-Oncology, s. 803-818, 2009

• DOI för Characterization of novel and complex genomic aberrations in glioblastoma using a 32K BAC array

Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array

Mantripragada, Kiran K; Diaz de Ståhl, Teresita; Patridge, Chris; Menzel, Uwe et al.

Ingår i Genes, Chromosomes and Cancer, s. 897-907, 2009

• DOI för Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array

Genome-wide microarray-based comparative genomic hybridization analysis of lymphoplasmacytic lymphomas reveals heterogeneous aberrations

Buckley, Patrick G.; Walsh, Sarah H.; Laurell, Anna; Sundström, Christer et al.

Ingår i Leukemia and Lymphoma, s. 1528-34, 2009

• DOI för Genome-wide microarray-based comparative genomic hybridization analysis of lymphoplasmacytic lymphomas reveals heterogeneous aberrations

Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array

de Ståhl, Teresita Díaz; Sandgren, Johanna; Piotrowski, Arkadiusz; Nord, Helena et al.

Ingår i Human Mutation, s. 398-408, 2008

• DOI för Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array

Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles

Bruder, Carl E G; Piotrowski, Arkadiusz; Gijsbers, Antoinet A C J; Andersson, Robin et al.

Ingår i American Journal of Human Genetics, s. 763-71, 2008

• DOI för Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles

Somatic mosaicism for copy number variation in differentiated human tissues

Piotrowski, Arkadiusz; Bruder, Carl E G; Andersson, Robin; de Ståhl, Teresita Diaz et al.

Ingår i Human Mutation, s. 1118-24, 2008

• DOI för Somatic mosaicism for copy number variation in differentiated human tissues

Autoantibodies to Glutathione S-transferase theta 1 in patients with primary sclerosing cholangitis and other autoimmune diseases

Ardesjö, Brita; Hansson, Caisa M.; Bruder, Carl E.G.; Rorsman, Fredrik et al.

Ingår i Journal of Autoimmunity, s. 273-282, 2008

• DOI för Autoantibodies to Glutathione S-transferase theta 1 in patients with primary sclerosing cholangitis and other autoimmune diseases

Distal 22q11.2 microduplication encompassing the BCR gene

Descartes, Maria; Franklin, Judy; de Ståhl, Teresita Diaz; Piotrowski, Arkadiusz et al.

Ingår i American journal of medical genetics. Part A, s. 3075-3081, 2008

• DOI för Distal 22q11.2 microduplication encompassing the BCR gene

Comprehensive genetic and epigenetic analysis of sporadic meningioma for macro-mutations on 22q and micro-mutations within the NF2 locus

Hansson, Caisa M.; Buckley, Patrick; Grigelioniene, Giedre; Piotrowski, Arkadiusz et al.

Ingår i BMC Genomics, s. 16, 2007

• DOI för Comprehensive genetic and epigenetic analysis of sporadic meningioma for macro-mutations on 22q and micro-mutations within the NF2 locus

A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients

Erickson, Robert P; de Ståhl, Teresita Díaz; Bruder, Carl E G; Dumanski, Jan P

Ingår i American Journal of Medical Genetics Part A, s. 3302-3308, 2007

• DOI för A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients

Detection of copy number changes at the NF1 locus with improved high-resolution array CGH

Shen, M. H.; Mantripragada, K.; Dumanski, Jan P.; Frayling, I. et al.

Ingår i Clinical Genetics, s. 238-244, 2007

• DOI för Detection of copy number changes at the NF1 locus with improved high-resolution array CGH

A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene

Mikhail, Fady M.; Descartes, Maria; Piotrowski, Arkadiusz; Andersson, Robin et al.

Ingår i American journal of medical genetics. Part A, s. 2178-2184, 2007

• DOI för A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene

Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation

Thuresson, Ann-Charlotte; Bondeson, Marie-Louise; Edeby, Christina; Ellis, P. et al.

Ingår i Cytogenetic and Genome Research, s. 1-7, 2007

• DOI för Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation

Overlapping phenotype of wolf-hirschhorn and beckwith-wiedemann syndromes in a girl with der(4)t(4; 1 1)(pter;pter)

Mikhail, Fady M.; Sathienkijkanchai, Achara; Robin, Nathaniel H.; Prucka, Sandra et al.

Ingår i American Journal of Medical Genetics, Part A, s. 1760-1766, 2007

• DOI för Overlapping phenotype of wolf-hirschhorn and beckwith-wiedemann syndromes in a girl with der(4)t(4; 1 1)(pter;pter)

Array-CGH and multipoint FISH to decode complex chromosomal rearrangements

Darai-Ramqvist, Eva; Díaz de Ståhl, Teresita; Sandlund, Agneta; Mantripragada, Kiran et al.

Ingår i BMC Genomics, s. 330, 2006

• DOI för Array-CGH and multipoint FISH to decode complex chromosomal rearrangements

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

Chromosome 22 array-CGH profiling of breast cancer delimited minimal common regions of genomic imbalances and revealed frequent intra-tumoral genetic heterogeneity

Benetkiewicz, Magdalena; Piotrowski, Arkadiusz; Díaz de Ståhl, Teresita; Jankowski, Michal et al.

Ingår i International Journal of Oncology, s. 935-945, 2006

Analysis of copy number variation in normal human population within a region containing complex segmental duplications on 22q11 using high resolution array-CGH

De Bustos, Cecilia; de Stahl, Teresita Diaz; Piotrowski, Arkadiusz; Mantripragada, Kiran K et al.

Ingår i Genomics, s. 152-162, 2006

• DOI för Analysis of copy number variation in normal human population within a region containing complex segmental duplications on 22q11 using high resolution array-CGH

High-resolution gene copy number and expression profiling of human chromosome 22 in ovarian carcinomas

Benetkiewicz, Magdalena; Wang, Yun; Schaner, Marci; Wang, Pei et al.

Ingår i Genes, Chromosomes and Cancer, s. 228-237, 2005

• DOI för High-resolution gene copy number and expression profiling of human chromosome 22 in ovarian carcinomas

Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2

Buckley, Patrick G.; Mantripragada, Kiran K.; Di­az de Ståhl, Teresita; Piotrowski, Arkadiusz et al.

Ingår i Human Mutation, s. 540-9, 2005

• DOI för Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2

Comprehensive DNA copy number profiling of meningioma using a chromosome 1 tiling path microarray identifies novel candidate tumor suppressor loci

Buckley, Patrick; Jarbo, Caroline; Menzel, Uwe; Mathiesen, Tiit et al.

Ingår i Cancer Research, s. 2653-2661, 2005

• DOI för Comprehensive DNA copy number profiling of meningioma using a chromosome 1 tiling path microarray identifies novel candidate tumor suppressor loci

A full-coverage, high-resolution human chromosome 22 genomic microarrayfor clinical and research applications

Buckley, Patrick G; Mantripragada, Kiran K; Benetkiewicz, Magdalena; Tapia-Paez, Isabel et al.

Ingår i Human Molecular Genetics, s. 3221-3229, 2002

• DOI för A full-coverage, high-resolution human chromosome 22 genomic microarrayfor clinical and research applications

The effects of loss of Y chromosome on male health

Bruhn-Olszewska, Bożena; Markljung, Ellen; Rychlicka-Buniowska, Edyta; Sarkisyan, Daniil et al.

Ingår i Nature reviews genetics, s. 320-335, 2025

• DOI för The effects of loss of Y chromosome on male health

Mosaicism in health and disease — clones picking up speed

Forsberg, Lars A.; Gisselsson, David; Dumanski, Jan P.

Ingår i Nature reviews genetics, s. 128-142, 2017

• DOI för Mosaicism in health and disease — clones picking up speed

Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime

Forsberg, Lars A.; Absher, Devin; Dumanski, Jan Piotr

Ingår i Journal of Medical Genetics, s. 1-10, 2013

• DOI för Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime

Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime (Reprinted from vol 50, pg 1-10, 2013)

Forsberg, Lars A.; Absher, Devin; Dumanski, Jan Piotr

Ingår i Postgraduate medical journal, s. 417-426, 2013

• DOI för Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime (Reprinted from vol 50, pg 1-10, 2013)
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