Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus

BMC Medical Genetics

Volumn 12, Issue , 2011, Pages

  Xu, Yue Juan ^a   Wang, Jian ^a   Xu, Rang ^b   Zhao, Peng Jun ^a   Wang, Xi Ke ^a   Sun, Heng Juan ^c   Bao, Li Ming ^c,d   Shen, Jie ^c   Fu, Qi Hua ^a   Li, Fen ^a   Sun, Kun ^a,b  

^a SHANGHAI CHILDREN S MEDICAL CENTER   (China)

^b XINHUA HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^c SHANGHAI CHILDREN S HOSPITAL   (China)

^d CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; AORTA ARCH INTERRUPTION; ARTICLE; CHILD; CHINESE; CHROMOSOME BREAKAGE; CHROMOSOME DELETION 22Q11; CONGENITAL HEART MALFORMATION; CONOTRUNCAL HEART DEFECT; CONTROLLED STUDY; FALLOT TETRALOGY; FEMALE; GENE; GENE FREQUENCY; GENE LOCUS; GREAT VESSELS TRANSPOSITION; HEART RIGHT VENTRICLE DOUBLE OUTLET; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PULMONARY VALVE ATRESIA; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; TBX1 GENE; ASIAN; CASE CONTROL STUDY; CELL CULTURE; CHROMOSOME ANALYSIS; DIGEORGE SYNDROME; ETHNOLOGY; GENETIC ASSOCIATION; GENETICS; HAPLOIDY; INCIDENCE; PHENOTYPE; PHYSIOLOGY; STATISTICS; VELOCARDIOFACIAL SYNDROME;

T BOX TRANSCRIPTION FACTOR; TBX1 PROTEIN, HUMAN;

ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; CYTOGENETIC ANALYSIS; DIGEORGE SYNDROME; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC LOCI; HAPLOIDY; HEART DEFECTS, CONGENITAL; HUMANS; INCIDENCE; MALE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; T-BOX DOMAIN PROTEINS;

EID: 83755228903     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-12-169     Document Type: Article

References (34)

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