Novel copy-number variants in a population-based investigation of classic heterotaxy

Genetics in Medicine

Volumn 17, Issue 5, 2015, Pages 348-357

  Rigler, Shannon L ^a,b   Kay, Denise M ^c   Sicko, Robert J ^c   Fan, Ruzong ^a   Liu, Aiyi ^a   Caggana, Michele ^c   Browne, Marilyn L ^d,e   Druschel, Charlotte M ^d,e   Romitti, Paul A ^f   Brody, Lawrence C ^g   Mills, James L ^a  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b WALTER REED ARMY MEDICAL CENTER   (United States)

^c WADSWORTH CENTER   (United States)

^d NEW YORK STATE DEPARTMENT OF HEALTH   (United States)

^e UNIVERSITY AT ALBANY   (United States)

^f UNIVERSITY OF IOWA   (United States)

^g NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

BMP2 gene; congenital heart disease; copy number variant; heterotaxy; MNDA gene

Indexed keywords

BONE MORPHOGENETIC PROTEIN 2; DIFFERENTIATION ANTIGEN; MYELOID CELL NUCLEAR DIFFERENTIATION ANTIGEN; UNCLASSIFIED DRUG;

ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CHROMOSOME DELETION; CHROMOSOME DELETION 10Q; CHROMOSOME DELETION 1Q23.1; CONTROLLED STUDY; COPY NUMBER VARIATION; DRIED BLOOD SPOT TESTING; FEMALE; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE; HETEROTAXY SYNDROME; HUMAN; LIVE BIRTH; MAJOR CLINICAL STUDY; MOUSE; NEWBORN; NONHUMAN; PHENOTYPE; POPULATION RESEARCH; PROCEDURES; SINGLE NUCLEOTIDE POLYMORPHISM; CASE CONTROL STUDY; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL ABNORMALITIES; GENE DELETION; GENETIC ASSOCIATION STUDY; GENETICS; HEALTH SURVEY; INFANT; MALE; NEW YORK; RISK FACTOR;

MUS;

CASE-CONTROL STUDIES; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL ABNORMALITIES; DNA COPY NUMBER VARIATIONS; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; NEW YORK; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; POPULATION SURVEILLANCE; RISK FACTORS; SEQUENCE DELETION;

EID: 84928890336     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2014.112     Document Type: Article

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