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Volumn 57, Issue 4, 2000, Pages 253-266

Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders

Author keywords

Birth defect; Developmental biology; Genetic databases; Human genes; Malformation; Mouse models

Indexed keywords

DNA; ENZYME; RECEPTOR; STRUCTURAL PROTEIN; TRANSCRIPTION FACTOR;

EID: 0034056133     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2000.570403.x     Document Type: Review
Times cited : (67)

References (9)
  • 1
    • 0342819396 scopus 로고    scopus 로고
    • Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD). Online Mendelian Inheritance in Man, OMIM (TM). World Wide Web URL: http://www.ncbi.nlm.nih.gov/ omim/. 1999.
    • (1999)
  • 3
    • 0029079617 scopus 로고
    • The new dysmorphology: Application of insights from basic developmental biology to the understanding of human birth defects
    • Epstein CJ. The new dysmorphology: application of insights from basic developmental biology to the understanding of human birth defects. Proc Natl Acad Sci USA 1995: 92 (19): 8566-8573.
    • (1995) Proc Natl Acad Sci USA , vol.92 , Issue.19 , pp. 8566-8573
    • Epstein, C.J.1
  • 5
    • 0033073850 scopus 로고    scopus 로고
    • De novo Alu-element insertions in FGFR2 identify a distinct pathological basis for apert syndrome
    • Oldridge M, Zackai EH, McDonald-McGinn DM et al. De novo Alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. Am J Hum Genet 1999: 64 (2): 446-461.
    • (1999) Am J Hum Genet , vol.64 , Issue.2 , pp. 446-461
    • Oldridge, M.1    Zackai, E.H.2    McDonald-McGinn, D.M.3
  • 6
    • 0032574721 scopus 로고    scopus 로고
    • Mutation of the Sry-related Sox10 gene in dominant megacolon, a mouse model for human hirschsprung disease
    • Herbarth B, Pingault V. Bondurand N et al. Mutation of the Sry-related Sox10 gene in dominant megacolon, a mouse model for human Hirschsprung disease. Proc Natl Acad Sci USA 1998: 95 (9): 5161-5165.
    • (1998) Proc Natl Acad Sci USA , vol.95 , Issue.9 , pp. 5161-5165
    • Herbarth, B.1    Pingault, V.2    Bondurand, N.3
  • 7
    • 0029741915 scopus 로고    scopus 로고
    • Ectopic expression of MITF, a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocyte characteristics
    • Tachibana M, Takeda K, Nobukuni Y et al. Ectopic expression of MITF, a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocyte characteristics. Nat Genet 1996: 14(1): 50-54.
    • (1996) Nat Genet , vol.14 , Issue.1 , pp. 50-54
    • Tachibana, M.1    Takeda, K.2    Nobukuni, Y.3
  • 8
    • 0031905954 scopus 로고    scopus 로고
    • Epistatic relationship between Waardenburg syndrome genes MITF and PAX3
    • Watanabe A, Takeda K, Ploplis B, Tachibana M. Epistatic relationship between Waardenburg syndrome genes MITF and PAX3. Nat Genet 1998: 18 (3): 283-286.
    • (1998) Nat Genet , vol.18 , Issue.3 , pp. 283-286
    • Watanabe, A.1    Takeda, K.2    Ploplis, B.3    Tachibana, M.4
  • 9
    • 0029931943 scopus 로고    scopus 로고
    • Computer assisted diagnosis of malformation syndromes: An evaluation of three databases (LDDB, POSSUM, and SYNDROC)
    • Pelz J, Arendt V, Kunze J. Computer assisted diagnosis of malformation syndromes: an evaluation of three databases (LDDB, POSSUM, and SYNDROC). Am J Med Genet 1996: 63 (1): 257-267.
    • (1996) Am J Med Genet , vol.63 , Issue.1 , pp. 257-267
    • Pelz, J.1    Arendt, V.2    Kunze, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.