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Literature DB >> 24387995

Loss of PRDM16 is unlikely to cause cardiomyopathy in 1p36 deletion syndrome.

Nicole de Leeuw¹, Gunnar Houge².

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2014 PMID： 24387995 PMCID： PMC3882914 DOI： 10.1016/j.ajhg.2013.11.016

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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2 in total

1. Chromosome 1p terminal deletion: report of new findings and confirmation of two characteristic phenotypes.

Authors: K M Keppler-Noreuil; A J Carroll; W H Finley; S L Rutledge
Journal: J Med Genet Date: 1995-08 Impact factor: 6.318

2. Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.

Authors: Anne-Karin Arndt; Sebastian Schafer; Jorg-Detlef Drenckhahn; M Khaled Sabeh; Eva R Plovie; Almuth Caliebe; Eva Klopocki; Gabriel Musso; Andreas A Werdich; Hermann Kalwa; Matthias Heinig; Robert F Padera; Katharina Wassilew; Julia Bluhm; Christine Harnack; Janine Martitz; Paul J Barton; Matthias Greutmann; Felix Berger; Norbert Hubner; Reiner Siebert; Hans-Heiner Kramer; Stuart A Cook; Calum A MacRae; Sabine Klaassen
Journal: Am J Hum Genet Date: 2013-06-13 Impact factor: 11.025

2 in total

3 in total

Loss of PRDM16 is unlikely to cause cardiomyopathy in 1p36 deletion syndrome.

1. Chromosome 1p terminal deletion: report of new findings and confirmation of two characteristic phenotypes.

2. Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.

1. Phenotypic and Molecular Cytogenetic Analysis of a Case of Monosomy 1p36 Syndrome due to Unbalanced Translocation.

2. The importance of copy number variation in congenital heart disease.

Review 3. Genetics and genomics of dilated cardiomyopathy and systolic heart failure.