Related references
Note: Only part of the references are listed.Hypertrophic Cardiomyopathy With Left Ventricular Systolic Dysfunction Insights From the SHaRe Registry
Peter Marstrand et al.
CIRCULATION (2020)
When genetic burden reaches threshold
Roddy Walsh et al.
EUROPEAN HEART JOURNAL (2020)
Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers
Massimiliano Lorenzini et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2020)
Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy
Martina Lipari et al.
POLISH ARCHIVES OF INTERNAL MEDICINE-POLSKIE ARCHIWUM MEDYCYNY WEWNETRZNEJ (2020)
Genetic Testing and Counseling for Hypertrophic Cardiomyopathy
Allison L. Cirino et al.
CARDIOLOGY CLINICS (2019)
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy
Roddy Walsh et al.
GENOME MEDICINE (2019)
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes
Jodie Ingles et al.
CIRCULATION-GENOMIC AND PRECISION MEDICINE (2019)
First identification of homozygous truncating CSRP3 variants in two unrelated cases with hypertrophic cardiomyopathy
Alexandre Janin et al.
GENE (2018)
Hypertrophic Cardiomyopathy
Jeffrey B. Geske et al.
JACC-HEART FAILURE (2018)
Clinical Course and Management of Hypertrophic Cardiomyopathy
Barry J. Maron
NEW ENGLAND JOURNAL OF MEDICINE (2018)
Genetics of hypertrophic cardiomyopathy: A review of current state
M. Sabater-Molina et al.
CLINICAL GENETICS (2018)
When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies
Mehroz Ehsan et al.
JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY (2017)
Muscle LIM Protein: Master regulator of cardiac and skeletal muscle functions
Elizabeth Vafiadaki et al.
GENE (2015)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain
Diego Garcia-Giustiniani et al.
HEART (2015)
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy The Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC)
Perry M. Elliott et al.
EUROPEAN HEART JOURNAL (2014)
Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment
Jipin K. Das et al.
GENETICS IN MEDICINE (2014)
High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort
Susana Santos et al.
BMC MEDICAL GENETICS (2012)
MLP (muscle LIM protein) as a stress sensor in the heart
Byambajav Buyandelger et al.
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2011)
Hypertrophic cardiomyopathy family with double-heterozygous mutations; does disease severity suggest double-heterozygosity?
I. A. W. van Rijsingen et al.
NETHERLANDS HEART JOURNAL (2009)
Beyond the sarcomere:: CSRP3 mutations cause hypertrophic cardiomyopathy
Christian Geier et al.
HUMAN MOLECULAR GENETICS (2008)
Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy
Jeanne L. Theis et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2006)
Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin
JM Bos et al.
MOLECULAR GENETICS AND METABOLISM (2006)
Hypertrophic cardiomyopathy - Distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy
P Richard et al.
CIRCULATION (2003)
Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy
C Geier et al.
CIRCULATION (2003)
Cellular and functional defects in a mouse model of heart failure
G Esposito et al.
AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY (2000)