Copy-number variation of the glucose transporter gene SLC2A3 and congenital heart defects in the 22q11.2 deletion syndrome

American Journal of Human Genetics

Volumn 96, Issue 5, 2015, Pages 753-764

  Mlynarski, Elisabeth E ^a   Sheridan, Molly B ^a   Xie, Michael ^a   Guo, Tingwei ^b   Racedo, Silvia E ^b   McDonald Mcginn, Donna M ^a,c   Gai, Xiaowu ^d   Chow, Eva W C ^e   Vorstman, Jacob ^f   Swillen, Ann ^g   Devriendt, Koen ^g   Breckpot, Jeroen ^g   Digilio, Maria Cristina ^h   Marino, Bruno ⁱ   Dallapiccola, Bruno ^h   Philip, Nicole ^j   Simon, Tony J ^k   Roberts, Amy E ^l   Piotrowicz, Małgorzata ^m   Bearden, Carrie E ⁿ   Eliez, Stephan ^o   Gothelf, Doron ^p   Coleman, Karlene ^q   Kates, Wendy R ^r   Devoto, Marcella ^a,c,s   Zackai, Elaine ^a,c   Heine Suñer, Damian ^t   Shaikh, Tamim H ^u   Bassett, Anne S ^e   Goldmuntz, Elizabeth ^a,c   Morrow, Bernice E ^b   Emanuel, Beverly S ^a,c   more..

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

^e UNIVERSITY OF TORONTO   (Canada)

^f UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^g UNIVERSITY OF LEUVEN   (Belgium)

^h BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

ⁱ SAPIENZA UNIVERSITY OF ROME   (Italy)

^j AIX MARSEILLE UNIVERSITY   (France)

^k UNIVERSITY OF CALIFORNIA   (United States)

^l BOSTON CHILDREN S HOSPITAL   (United States)

^m POLISH MOTHER S MEMORIAL HOSPITAL RESEARCH INSTITUTE   (Poland)

ⁿ UNIVERSITY OF CALIFORNIA   (United States)

^o UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^p TEL AVIV UNIVERSITY   (Israel)

^q EMORY UNIVERSITY   (United States)

^r State University of New York Upstate Medical University: College of Medicine   (United States)

^s SAPIENZA UNIVERSITY OF ROME   (Italy)

^t HOSPITAL UNIVERSITARIO SON ESPASES   (Spain)

^u Children's Hospital Colorado   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE TRANSPORTER 3; RNA; SLC2A3 PROTEIN, HUMAN;

ANATOMY; ARTICLE; CHROMOSOME DELETION 22Q11; CHROMOSOME DELETION 22Q11.2; CHROMOSOME DUPLICATION; COHORT ANALYSIS; COMPUTER MODEL; CONGENITAL HEART MALFORMATION; COPY NUMBER VARIATION; DIGEORGE SYNDROME; EMBRYO; FEMALE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HUMAN; IN SITU HYBRIDIZATION; MAJOR CLINICAL STUDY; MALE; MOUSE; NONHUMAN; PRIORITY JOURNAL; VELOCARDIOFACIAL SYNDROME; ADULT; GENETICS; PATHOPHYSIOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; THORACIC AORTA;

ADULT; AORTA, THORACIC; DIGEORGE SYNDROME; DNA COPY NUMBER VARIATIONS; FEMALE; GENOTYPE; GLUCOSE TRANSPORTER TYPE 3; HEART DEFECTS, CONGENITAL; HUMANS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84929282777     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.03.007     Document Type: Article

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