Dilated cardiomyopathy: the complexity of a diverse genetic architecture
Remarkable progress has been made in understanding the genetic basis of dilated
cardiomyopathy (DCM). Rare variants in> 30 genes, some also involved in other …
cardiomyopathy (DCM). Rare variants in> 30 genes, some also involved in other …
Dilated cardiomyopathy in the era of precision medicine: latest concepts and developments
N Orphanou, E Papatheodorou, A Anastasakis - Heart failure reviews, 2022 - Springer
Dilated cardiomyopathy (DCM) is an umbrella term entailing a wide variety of genetic and
non-genetic etiologies, leading to left ventricular systolic dysfunction and dilatation, not …
non-genetic etiologies, leading to left ventricular systolic dysfunction and dilatation, not …
ACMG SF v3. 1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and …
ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome
sequencing: A policy statement of the American College of Medical Genetics and Genomics …
sequencing: A policy statement of the American College of Medical Genetics and Genomics …
Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals
E Kayvanpour, F Sedaghat-Hamedani, A Amr… - Clinical Research in …, 2017 - Springer
Aims Routine genetic testing in Dilated Cardiomyopathy (DCM) has recently become reality
using Next-Generation Sequencing. Several studies have explored the relationship between …
using Next-Generation Sequencing. Several studies have explored the relationship between …
TNNT1, TNNT2, and TNNT3: Isoform genes, regulation, and structure–function relationships
B Wei, JP Jin - Gene, 2016 - Elsevier
Troponin T (TnT) is a central player in the calcium regulation of actin thin filament function
and is essential for the contraction of striated muscles. Three homologous genes have …
and is essential for the contraction of striated muscles. Three homologous genes have …
Update 2011: clinical and genetic issues in familial dilated cardiomyopathy
RE Hershberger, JD Siegfried - Journal of the American College of …, 2011 - jacc.org
A great deal of progress has recently been made in the discovery and understanding of the
genetics of familial dilated cardiomyopathy (FDC). A consensus has emerged that with a …
genetics of familial dilated cardiomyopathy (FDC). A consensus has emerged that with a …
Prognostic prediction of genotype vs phenotype in genetic cardiomyopathies
A Paldino, M Dal Ferro, D Stolfo, I Gandin… - Journal of the American …, 2022 - jacc.org
Background Diverse genetic backgrounds often lead to phenotypic heterogeneity in
cardiomyopathies (CMPs). Previous genotype-phenotype studies have primarily focused on …
cardiomyopathies (CMPs). Previous genotype-phenotype studies have primarily focused on …
Genetic evaluation of cardiomyopathy—a Heart Failure Society of America practice guideline
RE Hershberger, J Lindenfeld, L Mestroni… - Journal of cardiac …, 2009 - Elsevier
Substantial progress has been made recently in understanding the genetic basis of
cardiomyopathy. Cardiomyopathies with known genetic cause include hypertrophic (HCM) …
cardiomyopathy. Cardiomyopathies with known genetic cause include hypertrophic (HCM) …
[HTML][HTML] Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals
RE Hershberger, A Morales, JD Siegfried - Genetics in Medicine, 2010 - Elsevier
Dilated cardiomyopathy (DCM), usually diagnosed as idiopathic dilated cardiomyopathy
(IDC), has been shown to have a familial basis in 20–35% of cases. Genetic studies in …
(IDC), has been shown to have a familial basis in 20–35% of cases. Genetic studies in …
[HTML][HTML] Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era
P Teekakirikul, MA Kelly, HL Rehm… - The Journal of Molecular …, 2013 - Elsevier
Inherited cardiomyopathies include hypertrophic cardiomyopathy, dilated cardiomyopathy,
arrhythmogenic right ventricular cardiomyopathy, left ventricular noncompaction, and …
arrhythmogenic right ventricular cardiomyopathy, left ventricular noncompaction, and …