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Volumn 140, Issue 19, 2006, Pages 2110-2114

CHD7 gene and non-syndromic cleft lip and palate

Author keywords

CHARGE syndrome; CHD7 gene; Cleft lip; Cleft palate

Indexed keywords

ARTICLE; CDH7 GENE; CLEFT LIP; CLEFT PALATE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC VARIABILITY; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PHILIPPINES; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SYNDROME CHARGE; UNITED STATES;

EID: 33749498394     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31308     Document Type: Article
Times cited : (27)

References (26)
  • 5
    • 26444571758 scopus 로고    scopus 로고
    • An evolutionary framework for common diseases: The ancestral- susceptibility model
    • Di Rienzo A, Hudson RR. 2005. An evolutionary framework for common diseases: The ancestral-susceptibility model. Trends Genet 21:596-601.
    • (2005) Trends Genet , vol.21 , pp. 596-601
    • Di Rienzo, A.1    Hudson, R.R.2
  • 7
    • 0018348787 scopus 로고
    • Choanal atresia and associated multiple anomalies
    • Hall BD. 1979. Choanal atresia and associated multiple anomalies. J Pediatr 95:395-398.
    • (1979) J Pediatr , vol.95 , pp. 395-398
    • Hall, B.D.1
  • 8
    • 0018350904 scopus 로고
    • Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation - A syndrome
    • Hittner HM, Hirsch NJ, Kreh GM, Rudolph AJ. 1979. Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation - a syndrome. J Pediatr Ophthalmol Strabismus 16:122-128.
    • (1979) J Pediatr Ophthalmol Strabismus , vol.16 , pp. 122-128
    • Hittner, H.M.1    Hirsch, N.J.2    Kreh, G.M.3    Rudolph, A.J.4
  • 11
    • 27944433292 scopus 로고    scopus 로고
    • Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins
    • Epub ahead of print
    • Johnson DS, Morrison N, Grant L, Turner T, Fantes J, Connor JM, Murday VA. 2005. Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins. J Med Genet [Epub ahead of print].
    • (2005) J Med Genet
    • Johnson, D.S.1    Morrison, N.2    Grant, L.3    Turner, T.4    Fantes, J.5    Connor, J.M.6    Murday, V.A.7
  • 13
    • 19444374276 scopus 로고    scopus 로고
    • Orofacial clefting: Recent insights into a complex trait
    • Jugessur A, Murray JC. 2005. Orofacial clefting: Recent insights into a complex trait. Curr Opin Genet Dev 15:270-278.
    • (2005) Curr Opin Genet Dev , vol.15 , pp. 270-278
    • Jugessur, A.1    Murray, J.C.2
  • 14
    • 0033814928 scopus 로고    scopus 로고
    • Implementing a unified approach to family-based tests of association
    • Laird NM, Horvath S, Xu X. 2000. Implementing a unified approach to family-based tests of association. Genet Epidemiol 19:S36-S42.
    • (2000) Genet Epidemiol , vol.19
    • Laird, N.M.1    Horvath, S.2    Xu, X.3
  • 16
    • 0028115695 scopus 로고
    • Properties of associations: Identity, nature, and clinical criteria, with a commentary on why CHARGE and Goldenhar are not associations
    • Lubinsky MS. 1994. Properties of associations: Identity, nature, and clinical criteria, with a commentary on why CHARGE and Goldenhar are not associations. Am J Med Genet 49:21-25.
    • (1994) Am J Med Genet , vol.49 , pp. 21-25
    • Lubinsky, M.S.1
  • 19
    • 11144322225 scopus 로고    scopus 로고
    • Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population
    • Scapoli L, Palmieri A, Martinelli M, Pezzetti F, Carinci P, Tognon M, Carinci F. 2005. Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population. Am J Hum Genet 76:180-183.
    • (2005) Am J Hum Genet , vol.76 , pp. 180-183
    • Scapoli, L.1    Palmieri, A.2    Martinelli, M.3    Pezzetti, F.4    Carinci, P.5    Tognon, M.6    Carinci, F.7
  • 20
    • 0036908801 scopus 로고    scopus 로고
    • Multiplex relative risk and estimation of the number of loci underlying an inherited disease
    • Schliekelman P, Slatkin M. 2002. Multiplex relative risk and estimation of the number of loci underlying an inherited disease. Am J Hum Genet 71:1369-1385.
    • (2002) Am J Hum Genet , vol.71 , pp. 1369-1385
    • Schliekelman, P.1    Slatkin, M.2
  • 23
    • 14344262552 scopus 로고    scopus 로고
    • Updated diagnostic criteria for CHARGE syndrome: A proposal
    • Verloes A. 2005. Updated diagnostic criteria for CHARGE syndrome: A proposal. Am J Med Genet Part A 133A:306-308.
    • (2005) Am J Med Genet Part A , vol.133 A , pp. 306-308
    • Verloes, A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.