Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning

Proceedings of the National Academy of Sciences of the United States of America

Volumn 108, Issue 7, 2011, Pages 2915-2920

  Fakhro, Khalid A ^a   Choi, Murim ^a   Ware, Stephanie M ^b   Belmont, John W ^c   Towbin, Jeffrey A ^b   Lifton, Richard P ^a   Khokha, Mustafa K ^a   Brueckner, Martina ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Cardiac development; Embryo; Xenopus tropicalis

Indexed keywords

NUCLEAR PROTEIN; PROTEIN GALNT 11; PROTEIN NUP188; PROTEIN ROCK 2; TRANSCRIPTION FACTOR PITX2; TRANSFORMING GROWTH FACTOR BETA 2 RECEPTOR; TRANSFORMING GROWTH FACTOR BETA RECEPTOR; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOME ABERRATION; CONTROLLED STUDY; COPY NUMBER VARIATION; GENE EXPRESSION; GENE MUTATION; GENOTYPE; HETEROTAXY SYNDROME; HUMAN; IN SITU HYBRIDIZATION; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; XENOPUS;

ANIMALS; BODY PATTERNING; CHROMOSOME ABERRATIONS; DNA COPY NUMBER VARIATIONS; GASTRULA; GENE KNOCKDOWN TECHNIQUES; GENOTYPE; HEART DEFECTS, CONGENITAL; HOMEODOMAIN PROTEINS; HUMANS; IN SITU HYBRIDIZATION; N-ACETYLGALACTOSAMINYLTRANSFERASES; NUCLEAR PORE COMPLEX PROTEINS; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; TRANSCRIPTION FACTORS; XENOPUS; XENOPUS PROTEINS;

XENOPUS TROPICALIS;

EID: 79952584346     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1019645108     Document Type: Article

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