Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci

American Journal of Human Genetics

Volumn 96, Issue 3, 2015, Pages 397-411

  Leslie, Elizabeth J ^a   Taub, Margaret A ^b   Liu, Huan ^c,d   Steinberg, Karyn Meltz ^e   Koboldt, Daniel C ^e   Zhang, Qunyuan ^e   Carlson, Jenna C ^f   Hetmanski, Jacqueline B ^b   Wang, Hang ^b   Larson, David E ^e   Fulton, Robert S ^e   Kousa, Youssef A ^g   Fakhouri, Walid D ^h   Naji, Ali ^h   Ruczinski, Ingo ^b   Begum, Ferdouse ^b   Parker, Margaret M ^b   Busch, Tamara ⁱ   Standley, Jennifer ⁱ   Rigdon, Jennifer ⁱ   Hecht, Jacqueline T ^h   Scott, Alan F ^j   Wehby, George L ^k   Christensen, Kaare ^l   Czeizel, Andrew E ^m   Deleyiannis, Frederic W B ⁿ   Schutte, Brian C ^o   Wilson, Richard K ^e   Cornell, Robert A ⁱ   Lidral, Andrew C ^c   Weinstock, George M ^e,p   Beaty, Terri H ^b   Marazita, Mary L ^a,f   Murray, Jeffrey C ⁱ   more..

^a UNIVERSITY OF PITTSBURGH   (United States)

^b JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

^c UNIVERSITY OF IOWA   (United States)

^d WUHAN UNIVERSITY   (China)

^e WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^g Michigan State University   (United States)

^h UNIVERSITY OF TEXAS   (United States)

ⁱ UNIVERSITY OF IOWA   (United States)

^j JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^k UNIVERSITY OF IOWA   (United States)

^l UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^m FOUNDATION FOR THE COMMUNITY CONTROL OF HEREDITARY DISEASES   (Hungary)

ⁿ UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^o NONE   (United States)

^p JACKSON LABORATORY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 2; GENOMIC DNA; NOGGIN; TRANSCRIPTION FACTOR PAX7; CARRIER PROTEIN; FGFR2 PROTEIN, HUMAN; NOGGIN PROTEIN; PAX7 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ARTICLE; ASIAN; CHINESE; CLEFT LIP; CLEFT LIP PALATE; CLEFT PALATE; DNA BINDING; EUROPEAN; EUROPEAN AMERICAN; FILIPINO (PEOPLE); GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; POPULATION GENETICS; PRIORITY JOURNAL; ALLELE; AMINO ACID SEQUENCE; ANIMAL; ASIAN CONTINENTAL ANCESTRY GROUP; BRAIN; C57BL MOUSE; CAUCASIAN; CELL LINE; CONGENITAL MALFORMATION; DNA SEQUENCE; EPITHELIUM CELL; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION; GENETICS; METABOLISM; MISSENSE MUTATION; MOLECULAR GENETICS; MOUSE; SINGLE NUCLEOTIDE POLYMORPHISM; ZEBRA FISH;

ALLELES; AMINO ACID SEQUENCE; ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; BRAIN; CARRIER PROTEINS; CELL LINE; CLEFT LIP; CLEFT PALATE; EPITHELIAL CELLS; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MICE; MICE, INBRED C57BL; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PAX7 TRANSCRIPTION FACTOR; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS; ZEBRAFISH;

EID: 84924238819     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.01.004     Document Type: Article

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