A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy (Q57161603)

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Analia Munoz

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Corinne Gehrig

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René Lerch

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Andreas Perrot

6

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Karl Josef Osterziel

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Christian Geier

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Maurice Beghetti

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François Mach

10

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Juan Sztajzel

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Ulrich Sigwart

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Stylianos E. Antonarakis

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Jean-Louis Blouin

Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults

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publication date

June 2008

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published in

Human Mutation

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volume

29

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issue

6

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page(s)

879-885

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cites work

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Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

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Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis

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Molecular genetics in hypertrophic cardiomyopathy: towards individualized management of the disease

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A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy

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High-throughput variation detection and genotyping using microarrays

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Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.

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Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy

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Resequencing and mutational analysis using oligonucleotide microarrays

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Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling

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Angiotensin-I converting enzyme genotypes and left ventricular hypertrophy in patients with hypertrophic cardiomyopathy

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Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene

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Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis

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The Human MitoChip: a high-throughput sequencing microarray for mitochondrial mutation detection.

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Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform

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Angiotensin-converting enzyme polymorphism in hypertrophic cardiomyopathy and sudden cardiac death

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Modifier genes for hypertrophic cardiomyopathy

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Primary prevention of sudden death as a novel treatment strategy in hypertrophic cardiomyopathy

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Mutation of the phospholamban promoter associated with hypertrophic cardiomyopathy

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Natural history and familial characteristics of isolated left ventricular non-compaction

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Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy

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Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy

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Molecular insights from a novel cardiac troponin I mouse model of familial hypertrophic cardiomyopathy

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Yield of genetic testing in hypertrophic cardiomyopathy

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Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients

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New developments in high-throughput resequencing and variation detection using high density microarrays

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Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy

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