A new common mutation in the cardiac beta-myosin heavy chain gene in Finnish patients with hypertrophic cardiomyopathy

Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 Mutations in Sporadic Hypertrophic Cardiomyopathy

(2013) Luc^|^iacute;a N^|^uacute;^|^ntilde;ez et al.   CIRCULATION JOURNAL

Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders

(2013) S. Fokstuen et al.   CLINICAL GENETICS

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants

(2013) Charlotte Andreasen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing

(2013) Luis R Lopes et al.   JOURNAL OF MEDICAL GENETICS

Two founder mutations in the alpha-tropomyosin and the cardiac myosin-binding protein C genes are common causes of hypertrophic cardiomyopathy in the Finnish population

(2012) Pertti Jääskeläinen et al.   ANNALS OF MEDICINE

Long-Range Effects of Familial Hypertrophic Cardiomyopathy Mutations E180G and D175N on the Properties of Tropomyosin

(2012) Socheata Ly et al.   BIOCHEMISTRY

A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death

(2012) Carolien H Teirlinck et al.   BMC Medical Genetics

Genetics of Hypertrophic Cardiomyopathy After 20 Years

(2012) Barry J. Maron et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Double or compound sarcomere mutations in hypertrophic cardiomyopathy: A potential link to sudden death in the absence of conventional risk factors

(2011) Barry J. Maron et al.   HEART RHYTHM

Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice

(2011) S. Fokstuen et al.   JOURNAL OF MEDICAL GENETICS

Espectro mutacional de los genes sarcoméricos MYH7, MYBPC3, TNNT2, TNNI3 y TPM1 en pacientes con miocardiopatía hipertrófica

(2011) Mónica García-Castro et al.   REVISTA ESPANOLA DE CARDIOLOGIA

Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands

(2011) I. Christiaans* et al.   Netherlands Heart Journal

Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy

(2010) Gilles Millat et al.   European Journal of Medical Genetics

Insights into genotype-phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3

(2010) M. J. Oliva-Sandoval et al.   HEART

Clinical Features and Outcome of Hypertrophic Cardiomyopathy Associated With Triple Sarcomere Protein Gene Mutations

(2010) Francesca Girolami et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3gene

(2009) Philipp Ehlermann et al.   BMC Medical Genetics

The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy

(2009) Daniel Vega Møller et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives

(2008) Paal Skytt Andersen et al.   HUMAN MUTATION

Ubiquitin-Proteasome System Impairment Caused by a Missense Cardiac Myosin-binding Protein C Mutation and Associated with Cardiac Dysfunction in Hypertrophic Cardiomyopathy

(2008) Udin Bahrudin et al.   JOURNAL OF MOLECULAR BIOLOGY

Shared Genetic Causes of Cardiac Hypertrophy in Children and Adults

(2008) Hiroyuki Morita et al.   NEW ENGLAND JOURNAL OF MEDICINE