Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

Human Molecular Genetics

Volumn 21, Issue 7, 2012, Pages 1513-1520

  Soemedi, Rachel ^a   Topf, Ana ^a   Wilson, Ian J ^a   Darlay, Rebecca ^a   Rahman, Thahira ^a   Glen, Elise ^a   Hall, Darroch ^a   Huang, Ni ^b   Bentham, Jamie ^c   Bhattacharya, Shoumo ^c   Cosgrove, Catherine ^c   Brook, J David ^d   Granados riveron, Javier ^d   Setchfield, Kerry ^d   Bu'Lock, Frances ^e   Thornborough, Chris ^e   Devriendt, Koenraad ^f   Breckpot, Jeroen ^f   Hofbeck, Michael ^g   Lathrop, Mark ^h   Rauch, Anita ⁱ   Blue, Gillian M ^j   Winlaw, David S ^j   Hurles, Matthew ^b   Santibanez koref, Mauro ^a   Cordell, Heather J ^a   Goodship, Judith A ^a   Keavney, Bernard D ^a   more..

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d UNIVERSITY OF NOTTINGHAM   (United Kingdom)

^e East Midlands Congenital Heart Center   (United Kingdom)

^f UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^g UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^h DIF   (France)

ⁱ UNIVERSITY OF ZURICH   (Switzerland)

^j CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 40; GAP JUNCTION PROTEIN; GAP JUNCTION PROTEIN ALPHA 5; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CARDIAC PATIENT; CASE CONTROL STUDY; CHROMOSOME 1Q; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CONGENITAL HEART DISEASE; CONTROLLED STUDY; FALLOT TETRALOGY; FEMALE; GENE DOSAGE; GENE DUPLICATION; GENE FREQUENCY; GENE LOCUS; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM;

CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 1; CONNEXINS; GENE DUPLICATION; HEART DEFECTS, CONGENITAL; HUMANS; PHENOTYPE; TETRALOGY OF FALLOT;

EID: 84858257118     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr589     Document Type: Article

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