Rare variants in NR2F2 cause congenital heart defects in humans

American Journal of Human Genetics

Volumn 94, Issue 4, 2014, Pages 574-585

  Al Turki, Saeed ^a,b   Manickaraj, Ashok K ^c   Mercer, Catherine L ^d   Gerety, Sebastian S ^a   Hitz, Marc Phillip ^a   Lindsay, Sarah ^a   D'Alessandro, Lisa C A ^c   Swaminathan, G Jawahar ^a   Bentham, Jamie ^e   Arndt, Anne Karin ^f,g   Low, Jacoba ^h,i   Breckpot, Jeroen ^h   Gewillig, Marc ⁱ   Thienpont, Bernard ^h   Abdul Khaliq, Hashim ^j,k   Harnack, Christine ^k   Hoff, Kirstin ^g,l   Kramer, Hans Heiner ^g,k   Schubert, Stephan ^k,m   Siebert, Reiner ^l   Toka, Okan ^k,n   Cosgrove, Catherine ^o   Watkins, Hugh ^o   Lucassen, Anneke M ^d   O'Kelly, Ita M ^d   Salmon, Anthony P ^d   Bu'Lock, Frances A ^p   Granados Riveron, Javier ^q   Setchfield, Kerry ^q   Thornborough, Chris ^p   Brook, J David ^q   Mulder, Barbara ^r   Klaassen, Sabine ^k,s   Bhattacharya, Shoumo ^o   Devriendt, Koen ^h   Fitzpatrick, David F ^t   Wilson, David I ^d   Mital, Seema ^c   Hurles, Matthew E ^a   Barroso, Inês ^u   Beales, Philip ^u   Carss, Keren ^u   Chatterjee, Krishna ^u   Cirak, Sebhattin ^u   Daly, Allan ^u   Floyd, Jamie ^u   Franklin, Chris ^u   Futema, Marta ^u   Humphries, Steve ^u   McCarthy, Shane ^u   Mitchison, Hannah ^u   Muntoni, Francesco ^u   Onoufriadis, Alexandros ^u   Parker, Victoria ^u   Payne, Felicity ^u   Plagnol, Vincent ^u   Raymond, Lucy ^u   Savage, David ^u   Scambler, Peter ^u   Schmidts, Miriam ^u   Semple, Robert ^u   more..

^a WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^b KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^e BOSTON CHILDREN S HOSPITAL   (United States)

^f HARVARD MEDICAL SCHOOL   (United States)

^g UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^h UNIVERSITY OF LEUVEN   (Belgium)

ⁱ UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^j SAARLAND UNIVERSITY   (Germany)

^k MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^l UNIVERSITY OF KIEL   (Germany)

^m DEUTSCHES HERZZENTRUM BERLIN   (Germany)

ⁿ UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^o UNIVERSITY OF OXFORD   (United Kingdom)

^p UNIVERSITY HOSPITALS OF LEICESTER NHS TRUST   (United Kingdom)

^q UNIVERSITY OF NOTTINGHAM   (United Kingdom)

^r ACADEMIC MEDICAL CENTER   (Netherlands)

^s CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^t UNIVERSITY OF EDINBURGH   (United Kingdom)

^u NONE

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMINO ACID SUBSTITUTION; ANIMAL EMBRYO; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; ATRIOVENTRICULAR SEPTAL DEFECT; CHILD; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; CRYSTAL STRUCTURE; DONOR SITE; EMBRYO; EMBRYO DEVELOPMENT; EXOME; FEMALE; GENE; GENE DUPLICATION; GENE EXPRESSION; GENE SEQUENCE; GENE STRUCTURE; GENETIC CONSERVATION; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; LIGAND BINDING; MALE; MISSENSE MUTATION; MOUSE; NONHUMAN; NR2F2 GENE; PARENT; PHENOTYPE; PRIORITY JOURNAL; PROGENY;

ANIMALS; BINDING SITES; CELL LINE; COUP TRANSCRIPTION FACTOR II; EXOME; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; MALE; MICE; MUTATION, MISSENSE; PEDIGREE; PROSPECTIVE STUDIES; TRANSCRIPTION, GENETIC;

EID: 84898763352     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.03.007     Document Type: Article

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