메뉴 건너뛰기




Volumn 152 A, Issue 12, 2010, Pages 3107-3109

IRF6 mutations in mixed isolated familial clefting

Author keywords

Cleft lip; Cleft palate; IRF6; Non syndromic; Oro facial clefting; Van der Woude syndrome

Indexed keywords

AFRICAN AMERICAN; ARTICLE; CASE REPORT; CAUCASIAN; CHILD; CLEFT LIP; CLEFT PALATE; EXON; FEMALE; GENE; GENE MUTATION; GENETIC IDENTIFICATION; HEREDITY; HETEROZYGOSITY; HUMAN; INFANT; INTERFERON REGULATORY FACTOR 6 GENE; MALE; MISSENSE MUTATION; OROFACIAL CLEFTING; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SPEECH ANALYSIS; VAN DER WOUDE SYNDROME;

EID: 78649651249     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33053     Document Type: Article
Times cited : (16)

References (10)
  • 1
    • 0017258793 scopus 로고
    • A genetic study of facial clefting in Northern England
    • Bear JC. 1976. A genetic study of facial clefting in Northern England. Clin Genet 9: 277-284.
    • (1976) Clin Genet , vol.9 , pp. 277-284
    • Bear, J.C.1
  • 3
    • 0003868876 scopus 로고    scopus 로고
    • Syndromes of the head and neck
    • Gorlin R, Cohen M, Hennekam R, editors., Oxford, Oxford Univ Press.
    • Gorlin R, Cohen M, Hennekam R, editors. 2001. Syndromes of the head and neck. Oxford: Oxford Univ Press.
    • (2001)
  • 4
    • 0018103345 scopus 로고
    • Genetic counselling and genetics of cleft lip and cleft palate
    • Habib Z. 1978. Genetic counselling and genetics of cleft lip and cleft palate. Obstet Gynecol Surv 33: 441-447.
    • (1978) Obstet Gynecol Surv , vol.33 , pp. 441-447
    • Habib, Z.1
  • 5
    • 48949118893 scopus 로고    scopus 로고
    • Genetic variants in IRF6 and the risk of facial clefts: Single-marker and haplotype-based analyses in a population-based case-control study of facial clefts in Norway
    • Jugessur A, Rahimov F, Lie R, Wilcox A, Gjessing H, Nilsen R, Nguyen T, Murray J. 2008. Genetic variants in IRF6 and the risk of facial clefts: Single-marker and haplotype-based analyses in a population-based case-control study of facial clefts in Norway. Genet Epidemiol 32: 413-424.
    • (2008) Genet Epidemiol , vol.32 , pp. 413-424
    • Jugessur, A.1    Rahimov, F.2    Lie, R.3    Wilcox, A.4    Gjessing, H.5    Nilsen, R.6    Nguyen, T.7    Murray, J.8
  • 7
    • 34248232392 scopus 로고    scopus 로고
    • Analysis of family incidence of cleft lip and/or palate
    • Kot M, Kruk-Jeromini J. 2007. Analysis of family incidence of cleft lip and/or palate. Med Sci Monit 13: CR231-CR234.
    • (2007) Med Sci Monit , vol.13
    • Kot, M.1    Kruk-Jeromini, J.2
  • 8
    • 28044448897 scopus 로고    scopus 로고
    • Progress toward discerning the genetics of cleft lip
    • Lidral A, Moreno L. 2005. Progress toward discerning the genetics of cleft lip. Curr Opin Pediatr 17: 731-739.
    • (2005) Curr Opin Pediatr , vol.17 , pp. 731-739
    • Lidral, A.1    Moreno, L.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.