Can Circulating Cardiac Biomarkers Be Helpful in the Assessment of LMNA Mutation Carriers?
Autorzy:
Chmielewski P; Unit for Screening Studies in Inherited Cardiovascular Diseases, National Institute of Cardiology, 04-628 Warsaw, Poland. Michalak E; Unit for Screening Studies in Inherited Cardiovascular Diseases, National Institute of Cardiology, 04-628 Warsaw, Poland. Kowalik I; Department of Coronary Artery Disease and Cardiac Rehabilitation, National Institute of Cardiology, 04-628 Warsaw, Poland. Franaszczyk M; Molecular Biology Laboratory, Department of Medical Biology, National Institute of Cardiology, 04-628 Warsaw, Poland. Sobieszczanska-Malek M; Department of Heart Failure and Transplantology, National Institute of Cardiology, 04-628 Warsaw, Poland. Truszkowska G; Molecular Biology Laboratory, Department of Medical Biology, National Institute of Cardiology, 04-628 Warsaw, Poland. Stepien-Wojno M; Unit for Screening Studies in Inherited Cardiovascular Diseases, National Institute of Cardiology, 04-628 Warsaw, Poland. Biernacka EK; Department of Congenital Heart Diseases, National Institute of Cardiology, 04-628 Warsaw, Poland. Foss-Nieradko B; Unit for Screening Studies in Inherited Cardiovascular Diseases, National Institute of Cardiology, 04-628 Warsaw, Poland. Lewandowski M; 2nd Department of Arrhythmia, National Institute of Cardiology, 04-628 Warsaw, Poland. Oreziak A; 1st Department of Arrhythmia, National Institute of Cardiology, 04-628 Warsaw, Poland. Bilinska M; 1st Department of Arrhythmia, National Institute of Cardiology, 04-628 Warsaw, Poland. Kusmierczyk M; Department of Cardiac Surgery and Transplantology, National Institute of Cardiology, 04-628 Warsaw, Poland. Tesson F; Interdisciplinary School of Health Sciences, Faculty of Health Sciences, University of Ottawa, Ottawa, ON K1N 6N5, Canada. Grzybowski J; Department of Cardiomyopathy, National Institute of Cardiology, 04-628 Warsaw, Poland. Zielinski T; Department of Heart Failure and Transplantology, National Institute of Cardiology, 04-628 Warsaw, Poland. Ploski R; Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland. BilinskaZT; Unit for Screening Studies in Inherited Cardiovascular Diseases, National Institute of Cardiology, 04-628 Warsaw, Poland.
Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes.
Autorzy:
Franaszczyk M; Molecular Biology Laboratory, Department of Medical Biology, Institute of Cardiology, 04-628 Warsaw, Poland. Truszkowska G; Molecular Biology Laboratory, Department of Medical Biology, Institute of Cardiology, 04-628 Warsaw, Poland. Chmielewski P; Unit for Screening Studies in Inherited Cardiovascular Diseases, Institute of Cardiology, 04-628 Warsaw, Poland. Rydzanicz M; Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland. Kosinska J; Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland. Rywik T; Department of Heart Failure and Transplantology, Institute of Cardiology, 04-628 Warsaw, Poland. Biernacka A; Postgraduate School of Molecular Medicine, Medical University of Warsaw, 02-091 Warsaw, Poland. Spiewak M; Magnetic Resonance Unit, Department of Radiology, Institute of Cardiology, 04-628 Warsaw, Poland. Kostrzewa G; Department of Forensic Medicine, Medical University of Warsaw, 02-007 Warsaw, Poland. Stepien-Wojno M; Unit for Screening Studies in Inherited Cardiovascular Diseases, Institute of Cardiology, 04-628 Warsaw, Poland. Stawinski P; Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland. Bilinska M; Department of Arrhythmia, Institute of Cardiology, 04-628 Warsaw, Poland. Krajewski P; Department of Forensic Medicine, Medical University of Warsaw, 02-007 Warsaw, Poland. Zielinski T; Department of Heart Failure and Transplantology, Institute of Cardiology, 04-628 Warsaw, Poland. Lutynska A; Department of Medical Biology, Institute of Cardiology, 04-628 Warsaw, Poland. BilinskaZT; Unit for Screening Studies in Inherited Cardiovascular Diseases, Institute of Cardiology, 04-628 Warsaw, Poland. Ploski R; Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.
A novel truncating variant in the LAMP2 gene in a young woman with hypertrophic cardiomyopathy and variable clinical course in the family.
Autorzy:
Michalak E; Unit for Screening Studies in Inherited Cardiovascular Diseases, Institute of Cardiology, Warsaw, Poland. Franaszczyk M; Department of Medical Biology, Molecular Biology Laboratory, Institute of Cardiology, Warsaw, Poland. Sobieszczanska-Malek M; Department of Heart Failure and Transplantology, Institute of Cardiology, Warsaw, Poland. Karcz M; Department of Interventional Cardiology and Angiology, Institute of Cardiology, Warsaw, Poland. Szymanska S; Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland. Szczygiel J; Department of Cardiomyopathy, Institute of Cardiology, Warsaw, Poland. Lutynska A; Department of Medical Biology, Molecular Biology Laboratory, Institute of Cardiology, Warsaw, Poland. Ploski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland. BilinskaZT; Unit for Screening Studies in Inherited Cardiovascular Diseases, Institute of Cardiology, Warsaw, Poland.
Pokaż więcej
Źródło:
Archives of medical science : AMS [Arch Med Sci] 2019 Oct 09; Vol. 16 (6), pp. 1464-1469. Date of Electronic Publication: 2019 Oct 09 (Print Publication: 2020).
Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations.
Autorzy:
Franaszczyk M; Department of Medical Biology, Molecular Biology Laboratory, Institute of Cardiology, Warsaw, Poland. Chmielewski P; Unit for Screening Studies in Inherited Cardiovascular Diseases, Institute of Cardiology, Warsaw, Poland. Truszkowska G; Department of Medical Biology, Molecular Biology Laboratory, Institute of Cardiology, Warsaw, Poland. Stawinski P; Department of Genetics, Institute of Physiology and Pathology of Hearing, Kajetany/Warsaw, Poland. Michalak E; Unit for Screening Studies in Inherited Cardiovascular Diseases, Institute of Cardiology, Warsaw, Poland. Rydzanicz M; Department of Medical; Genetics, Medical University of Warsaw, Warsaw, Poland. Sobieszczanska-Malek M; Department of Heart Failure and Transplantology, Institute of Cardiology, Warsaw, Poland. Pollak A; Department of Genetics, Institute of Physiology and Pathology of Hearing, Kajetany/Warsaw, Poland. Szczygieł J; Department of Cardiomyopathies, Institute of Cardiology, Warsaw, Poland. Kosinska J; Department of Medical; Genetics, Medical University of Warsaw, Warsaw, Poland. Parulski A; Department of Cardiac Surgery and Transplantology, Institute of Cardiology, Warsaw, Poland. Stoklosa T; Department of Immunology, Center for Biostructure Research, Medical University of Warsaw, Warsaw, Poland. Tarnowska A; Department of Heart Failure and Transplantology, Institute of Cardiology, Warsaw, Poland. Machnicki MM; Department of Immunology, Center for Biostructure Research, Medical University of Warsaw, Warsaw, Poland.; Postgraduate School of Molecular Medicine, Medical University of Warsaw, Warsaw, Poland. Foss-Nieradko B; Unit for Screening Studies in Inherited Cardiovascular Diseases, Institute of Cardiology, Warsaw, Poland. Szperl M; Department of Medical Biology, Molecular Biology Laboratory, Institute of Cardiology, Warsaw, Poland. Sioma A; Department of Cardiomyopathies, Institute of Cardiology, Warsaw, Poland. Kusmierczyk M; Department of Cardiac Surgery and Transplantology, Institute of Cardiology, Warsaw, Poland. Grzybowski J; Department of Cardiomyopathies, Institute of Cardiology, Warsaw, Poland. Zielinski T; Department of Heart Failure and Transplantology, Institute of Cardiology, Warsaw, Poland. Ploski R; Department of Medical; Genetics, Medical University of Warsaw, Warsaw, Poland. BilinskaZT; Unit for Screening Studies in Inherited Cardiovascular Diseases, Institute of Cardiology, Warsaw, Poland.
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Źródło:
PloS one [PLoS One] 2017 Jan 03; Vol. 12 (1), pp. e0169007. Date of Electronic Publication: 2017 Jan 03 (Print Publication: 2017).
Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.
Autorzy:
Poninska JK; Molecular Biology Laboratory, Institute of Cardiology, Warsaw, Poland. BilinskaZT; Unit for Screening Studies in Inherited Cardiovascular Diseases, Institute of Cardiology, Warsaw, Poland. . Franaszczyk M; Molecular Biology Laboratory, Institute of Cardiology, Warsaw, Poland. Michalak E; Unit for Screening Studies in Inherited Cardiovascular Diseases, Institute of Cardiology, Warsaw, Poland. Rydzanicz M; Department of Medical Genetics, Centre of Biostructure, Medical University of Warsaw, Warsaw, Poland. Szpakowski E; Department of Cardiac Surgery and Transplantation, Institute of Cardiology, Warsaw, Poland. Pollak A; Department of Genetics, Institute of Physiology and Pathology of Hearing, Warsaw, Poland. Milanowska B; Unit for Screening Studies in Inherited Cardiovascular Diseases, Institute of Cardiology, Warsaw, Poland. Truszkowska G; Molecular Biology Laboratory, Institute of Cardiology, Warsaw, Poland. Chmielewski P; Unit for Screening Studies in Inherited Cardiovascular Diseases, Institute of Cardiology, Warsaw, Poland. Sioma A; Unit for Screening Studies in Inherited Cardiovascular Diseases, Institute of Cardiology, Warsaw, Poland. Janaszek-Sitkowska H; Department of Hypertension, Institute of Cardiology, Warsaw, Poland. Klisiewicz A; Department of Congenital Cardiac Defects, Institute of Cardiology, Warsaw, Poland. Michalowska I; Department of Radiology, Institute of Cardiology, Warsaw, Poland. Makowiecka-Ciesla M; Department of Hypertension, Institute of Cardiology, Warsaw, Poland. Kolsut P; Department of Cardiac Surgery and Transplantation, Institute of Cardiology, Warsaw, Poland. Stawinski P; Department of Medical Genetics, Centre of Biostructure, Medical University of Warsaw, Warsaw, Poland.; Department of Genetics, Institute of Physiology and Pathology of Hearing, Warsaw, Poland. Foss-Nieradko B; Unit for Screening Studies in Inherited Cardiovascular Diseases, Institute of Cardiology, Warsaw, Poland. Szperl M; Molecular Biology Laboratory, Institute of Cardiology, Warsaw, Poland. Grzybowski J; Department of Cardiomyopathy, Institute of Cardiology, Warsaw, Poland. Hoffman P; Department of Congenital Cardiac Defects, Institute of Cardiology, Warsaw, Poland. Januszewicz A; Department of Hypertension, Institute of Cardiology, Warsaw, Poland. Kusmierczyk M; Department of Cardiac Surgery and Transplantation, Institute of Cardiology, Warsaw, Poland. Ploski R; Department of Medical Genetics, Centre of Biostructure, Medical University of Warsaw, Warsaw, Poland. .
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