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Article

Fine Mapping of the 1p36 Deletion Syndrome Identifies Mutation of PRDM16 as a Cause of Cardiomyopathy

13 Jun 2013

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 23768516
DOI: 10.1016/j.ajhg.2013.05.015

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Fine Mapping of the 1p36 Deletion Syndrome Identifies Mutation of PRDM16 as a Cause of CardiomyopathyPMID 23768516Read ↗

Dilated cardiomyopathy in patients with PRDM16 haploinsufficiency.Semantic proximity Read ↗

Cardiac-specific inactivation of Prdm16 effects cardiac conduction abnormalities and cardiomyopathy-associated phenotypes.Semantic proximity Read ↗

Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes.Semantic proximity Read ↗

Prdm16 mutation determines sex-specific cardiac metabolism and identifies two novel cardiac metabolic regulators.Semantic proximity Read ↗

A Common <i>CD36</i> Variant and the Genetic Landscape of Dilated Cardiomyopathy in Individuals of African AncestrySemantic proximity Read ↗

Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complicationsSemantic proximity Read ↗

Genome sequencing identifies a non-coding variant in the MCDR1 locus as a cause of macular dystrophy.Semantic proximity Read ↗

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.Semantic proximity Read ↗

<i>Prdm16</i> mutation determines sex-specific cardiac metabolism and identifies two novel cardiac metabolic regulatorsSemantic proximity Read ↗

Perm1 Gene Therapy Mitigates PRDM16-Associated CardiomyopathySemantic proximity Read ↗

Phenotype of a Patient With a 1p36.11-p35.3 Interstitial Deletion Encompassing the AHDC1.Semantic proximity Read ↗

Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genesSemantic proximity Read ↗

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