Clinical and genetic characteristics of cardiac actin gene mutations in hypertrophic cardiomyopathy (original) (raw)
Genetic analysis of hypertrophic cardiomyopathy in 2 Croatian families
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European Journal of Human Genetics, 2019
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Genetic analysis of hypertrophic cardiomyopathy phenocopies
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2000
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Faridpur Medical College Journal, 2020
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Exclusion of cardiac myosin heavy chain and actin gene involvement in hypertrophic cardiomyopathy of several French families
Lucie Carrier
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Genomic findings of hypertrophic and dilated cardiomyopathy characterized in a Thai clinical genetics service
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Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy
Philippe Chevalier
European Journal of Medical Genetics, 2010
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Spectrum and clinical manifestations of mutations in genes responsible for hypertrophic cardiomyopathy
Lucie Benesova, Karol Curila
Acta cardiologica, 2012
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Genetic Determinants Of Clinical Phenotype In Hypertrophic Cardiomyopathy 
Miodrag Golubović
Research Square (Research Square), 2020
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Genetic Determinants Of Clinical Phenotype In Hypertrophic Cardiomyopathy
Dejana Popovic
2020
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Epidemiology of Cardiomyopathy ‑ A Clinical and Genetic Study of Hypertrophic Cardiomyopathy: The EPOCH‑H study
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Short Communication: The Cardiac Myosin Binding Protein C Arg502Trp Mutation: A Common Cause of Hypertrophic Cardiomyopathy
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New Variant With a Previously Unrecognized Mechanism of Pathogenicity in Hypertrophic Cardiomyopathy
Shehab Anwer
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Novel mutations in beta-myosin heavy chain, actin and troponin-I genes associated with dilated cardiomyopathy in Indian population
Pratibha Nallari
Journal of Genetics, 2009
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C80 Genetic and Non–Genetic Determinants of Clinical Variability in a Familial Case of Hypertrophic Cardiomyopathy with Heterozygous Pathogenic MYPBC3 Mutation
Daniela Rusconi
European Heart Journal Supplements, 2023
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Genotype-phenotype analysis in four families with mutations in β-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy
Philippe Charron
Human Mutation, 1998
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Hypertrophyc Cardiomyopathy: Infrequent Mutation of the Cardiac Beta-Myosin Heavy-Chain Gene
Roberto Mora
Revista Española de Cardiología (English Edition), 2006
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Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage
Arshad Jahangir
PloS one, 2017
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Hypertrophic cardiomyopathy: two homozygous cases with “typical” hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy
Maurizio Pieroni, Luisa Nanni, Andrea Frustaci
Biochemical and Biophysical Research Communications, 2003
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Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations
Henning Bundgaard
Journal of Medical Genetics, 2001
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Molecular genetics of hypertrophic cardiomyopathy
Jeffrey Towbin
Current cardiology reports, 2000
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Prevalence, Clinical Significance, and Genetic Basis of Hypertrophic Cardiomyopathy With Restrictive Phenotype
Eyman Osman
Journal of the American College of Cardiology, 2007
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Can Genetic Testing Improve Our Aim in Hypertrophic Cardiomyopathy?
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Circulation Research, 2010
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Homozygous Pro1066Arg MYBPC3 Pathogenic Variant in a 26Mb Region of Homozygosity Associated with Severe Hypertrophic Cardiomyopathy in a Patient of an Apparent Non-Consanguineous Family
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The Genetic Architecture of Hypertrophic Cardiomyopathy in Hungary: Analysis of 242 Patients with a Panel of 98 Genes
Zoltan Hegedus
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