Hirschsprung's disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation

Journal of Human Genetics

Volumn 57, Issue 8, 2012, Pages 485-493

  Carter, Tonia C ^a   Kay, Denise M ^b   Browne, Marilyn L ^c,d   Liu, Aiyi ^a   Romitti, Paul A ^e   Kuehn, Devon ^a   Conley, Mary R ^a   Caggana, Michele ^b   Druschel, Charlotte M ^c,d   Brody, Lawrence C ^f   Mills, James L ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b WADSWORTH CENTER   (United States)

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

^d STATE UNIVERSITY OF NEW YORK   (United States)

^e UNIVERSITY OF IOWA   (United States)

^f NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

congenital abnormalities; enteric nervous system; Hirschsprung disease; RET

Indexed keywords

ENDOCRINE GLAND DERIVED VASCULAR ENDOTHELIAL GROWTH FACTOR; HOMEOBOX B5 PROTEIN; HOMEODOMAIN PROTEIN; NERVE CELL ADHESION MOLECULE L1; PAIRED LIKE HOMEOBOX 2B PROTEIN; PROKR1 PROTEIN; PROTEIN; PROTEIN RET; TRANSCRIPTION FACTOR MASH1; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE CONTROL STUDY; CELL DIFFERENTIATION; CELL MIGRATION; CELL PROLIFERATION; CONTROLLED STUDY; ETHNICITY; FEMALE; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HIRSCHSPRUNG DISEASE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; NEURAL CREST CELL; RACE;

ADOLESCENT; ADULT; CELL DIFFERENTIATION; CELL MOVEMENT; CELL PROLIFERATION; CHILD; CHILD, PRESCHOOL; ENTERIC NERVOUS SYSTEM; ETHNIC GROUPS; FEMALE; GENETIC ASSOCIATION STUDIES; HIRSCHSPRUNG DISEASE; HOMEODOMAIN PROTEINS; HUMANS; MALE; NEURAL CREST; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTO-ONCOGENE PROTEINS C-RET; RNA SPLICE SITES; TRANSCRIPTION FACTORS;

ANIMALIA;

EID: 84865687732     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2012.54     Document Type: Article

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