The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events
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Cryo-EM structure of a human cytoplasmic actomyosin complex at near-atomic resolutionFounder mutations in hypertrophic cardiomyopathy patients in the NetherlandsDiagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relativesOf founder populations, long QT syndrome, and destiny.Mendelian-inherited heart disease: a gateway to understanding mechanisms in heart disease Update on work done at the University of StellenboschIdentifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal historyAlternative exon 9-encoded relay domains affect more than one communication pathway in the Drosophila myosin headFounder mutations among the Dutch.Myosin binding protein C: structural abnormalities in familial hypertrophic cardiomyopathy.Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac DeathContemporary trends in the epidemiology and management of cardiomyopathy and pericarditis in sub-Saharan AfricaEarly results of sarcomeric gene screening from the Egyptian National BA-HCM Program.Genetic variation in angiotensin-converting enzyme 2 gene is associated with extent of left ventricular hypertrophy in hypertrophic cardiomyopathy.Cardiomyopathy in Africa: heredity versus environment.Heart failure in sub-Saharan Africa.Mutations in the cardiac troponin T gene show various prognoses in Japanese patients with hypertrophic cardiomyopathyPrevalence and Phenotypic Expression of Mutations in the MYH7, MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study.Clinical features, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy in South Africans.Abnormal blood pressure response to exercise occurs more frequently in hypertrophic cardiomyopathy patients with the R92W troponin T mutation than in those with myosin mutations.Recent advances in the epidemiology, pathogenesis and prognosis of acute heart failure and cardiomyopathy in Africa.Genetic biomarkers in hypertrophic cardiomyopathy.Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy.Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency.The genetic basis of hypertrophic cardiomyopathy in cats and humans.Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.Serial observations and mutational analysis of an adoptee with family history of hypertrophic cardiomyopathyA One Health Approach to Hypertrophic Cardiomyopathy.Violence in male patients with schizophrenia: risk markers in a South African population.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.Compound heterozygosity deteriorates phenotypes of hypertrophic cardiomyopathy with founder MYBPC3 mutation: evidence from patients and zebrafish models.Troponin T and beta-myosin mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy.Investigating the role of the brain-derived neurotrophic factor (BDNF) val66met variant in obsessive-compulsive disorder (OCD).MYBPH acts as modifier of cardiac hypertrophy in hypertrophic cardiomyopathy (HCM) patients.Violence in male patients with schizophrenia: risk markers in a South African populationGenetic variation in angiotensin II type 2 receptor gene influences extent of left ventricular hypertrophy in hypertrophic cardiomyopathy independent of blood pressureHeterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure
P2860
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P2860
The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events
description
1999 nî lūn-bûn
@nan
1999 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
The origins of hypertrophic ca ...... independent and founder events
@ast
The origins of hypertrophic ca ...... independent and founder events
@en
The origins of hypertrophic ca ...... independent and founder events
@nl
type
label
The origins of hypertrophic ca ...... independent and founder events
@ast
The origins of hypertrophic ca ...... independent and founder events
@en
The origins of hypertrophic ca ...... independent and founder events
@nl
prefLabel
The origins of hypertrophic ca ...... independent and founder events
@ast
The origins of hypertrophic ca ...... independent and founder events
@en
The origins of hypertrophic ca ...... independent and founder events
@nl
P2093
P2860
P356
P1476
The origins of hypertrophic ca ...... independent and founder events
@en
P2093
Corfield VA
De Lange WJ
Moolman-Smook JC
P2860
P304
P356
10.1086/302623
P407
P577
1999-11-01T00:00:00Z