Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

European Journal of Human Genetics

Volumn 21, Issue 2, 2013, Pages 173-181

  Lalani, Seema R ^a,i   Shaw, Chad ^a   Wang, Xueqing ^a,i   Patel, Ankita ^a   Patterson, Lance W ^b   Kolodziejska, Katarzyna ^a   Szafranski, Przemyslaw ^a   Ou, Zhishuo ^a   Tian, Qi ^a   Kang, Sung Hae L ^a   Jinnah, Amina ^a   Ali, Sophia ^c   Malik, Aamir ^d   Hixson, Patricia ^a   Potocki, Lorraine ^a   Lupski, James R ^a   Stankiewicz, Pawel ^a   Bacino, Carlos A ^a   Dawson, Brian ^a   Beaudet, Arthur L ^a   Boricha, Fatima M ^e   Whittaker, Runako ^f   Li, Chumei ^g   Ware, Stephanie M ^h   Cheung, Sau Wai ^a   Penny, Daniel J ^b   Jefferies, John Lynn ^h   Belmont, John W ^a,i   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

^c UNIVERSITY OF TEXAS AT AUSTIN   (United States)

^d AGA KHAN UNIVERSITY HOSPITAL   (Pakistan)

^e UNIVERSITY OF TEXAS   (United States)

^f ST JOHN MEDICAL CENTER   (United States)

^g MCMASTER UNIVERSITY   (Canada)

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

ⁱ CHILDREN S NUTRITION RESEARCH CENTER   (United States)

Author keywords

16q24.3 microdeletion; cardiovascular malformations (CVMs); extracardiac anomalies (ECAs); protein interaction network; Rare copy number variations

Indexed keywords

TRANSCRIPTION FACTOR GATA 4; TRANSCRIPTION FACTOR SOX7;

ADOLESCENT; ADULT; ARTICLE; CARDIOVASCULAR MALFORMATION; CHILD; CHROMOSOME 17P; CHROMOSOME 22Q; CHROMOSOME 2Q; CHROMOSOME 3Q; CHROMOSOME 8P; CONTROLLED STUDY; COPY NUMBER VARIATION; DATA BASE; FEMALE; GENE LOCUS; HAPLOINSUFFICIENCY; HEALTH SURVEY; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; NEWBORN; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN INTERACTION; SCHOOL CHILD;

ANEUPLOIDY; CARDIOVASCULAR DISEASES; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 16; CHROMOSOMES, HUMAN, PAIR 22; COHORT STUDIES; DNA COPY NUMBER VARIATIONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN INTERACTION MAPS; SEQUENCE DELETION;

EID: 84872492830     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.155     Document Type: Article

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