Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate

Human Mutation

Volumn 36, Issue 11, 2015, Pages 1029-1033

  Brito, Luciano Abreu ^a   Yamamoto, Guilherme Lopes ^a   Melo, Soraia ^b,c   Malcher, Carolina ^a   Ferreira, Simone Gomes ^a   Figueiredo, Joana ^b,c   Alvizi, Lucas ^a   Kobayashi, Gerson Shigeru ^a   Naslavsky, Michel Satya ^a   Alonso, Nivaldo ^a   Felix, Temis Maria ^d   Zatz, Mayana ^a   Seruca, Raquel ^b,c,e   Passos Bueno, Maria Rita ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b UNIVERSITY OF PORTO   (Portugal)

^c UNIVERSITY OF PORTO   (Portugal)

^d HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^e University of Porto   (Portugal)

Author keywords

CDH1; Gastric cancer; Oral clefts; Rare variant; Two hit model

Indexed keywords

UVOMORULIN; CADHERIN; CDH1 PROTEIN, HUMAN;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLEFT LIP; CLEFT PALATE; COMPARATIVE STUDY; COMPUTER MODEL; CONTROLLED STUDY; EPITHELIUM; EXOME; EXON; FAMILY; FAMILY HISTORY; FEMALE; GENE FREQUENCY; GENE SEQUENCE; GENETIC LINKAGE; GENETIC RECOMBINATION; GENETIC SCREENING; GENETIC VARIABILITY; HAPLOINSUFFICIENCY; HAPLOTYPE; HUMAN; IMMUNOCYTOCHEMISTRY; IN VITRO STUDY; MAJOR CLINICAL STUDY; NEXT GENERATION SEQUENCING; NONHUMAN; NONSYNDROMIC CLEFT LIP; PATHOGENICITY; PENETRANCE; PRIORITY JOURNAL; RNA SPLICING; SEGREGATION ANALYSIS; STOMACH CANCER; STOP CODON; WESTERN BLOTTING; ALLELE; ANIMAL; BRAIN; CELL LINE; CHEMISTRY; CONGENITAL MALFORMATION; DNA MUTATIONAL ANALYSIS; GENETIC VARIATION; GENETICS; GENOTYPE; GERMLINE MUTATION; MUTATION; OPEN READING FRAME;

ALLELES; AMINO ACID SUBSTITUTION; ANIMALS; BRAIN; CADHERINS; CELL LINE; CLEFT LIP; CLEFT PALATE; DNA MUTATIONAL ANALYSIS; GENETIC VARIATION; GENOTYPE; GERM-LINE MUTATION; HUMANS; MUTATION; OPEN READING FRAMES; PENETRANCE;

EID: 84944156790     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22827     Document Type: Article

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