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Volumn 68, Issue 3, 1997, Pages 279-281

Physical mapping of the chromosome 7 breakpoint region in an SLOS Patient with t(7;20)(q32.1;q!3.2)

Author keywords

Balanced translocation; Chromosome 7; Physical map; Positional cloning; Smith lemli opitz syndrome (slos)

Indexed keywords

ARTICLE; CHOLESTEROL SYNTHESIS; CHROMOSOME 7; CHROMOSOME BREAKAGE; CHROMOSOME TRANSLOCATION 20; CHROMOSOME TRANSLOCATION 7; GENE MAPPING; HUMAN; HUMAN TISSUE; MENTAL DEFICIENCY; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME;

EID: 0031052396     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (11)

References (11)
  • 1
    • 0029001294 scopus 로고
    • Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient
    • Alley TL, Gray BA, Lee S-H, Scherer SW, Tsui L-C, Tint GS, Williams CA, Zori R, Wallace MR (1995): Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient. Am J Hum Genet 56:1411-1416.
    • (1995) Am J Hum Genet , vol.56 , pp. 1411-1416
    • Alley, T.L.1    Gray, B.A.2    Lee, S.-H.3    Scherer, S.W.4    Tsui, L.-C.5    Tint, G.S.6    Williams, C.A.7    Zori, R.8    Wallace, M.R.9
  • 2
    • 0024853560 scopus 로고
    • Apparent Smith-Lemli-Opitz syndrome and Miller-Dicker syndrome in a family with segregating translocation t(7;17)(q34;pl3.1)
    • Berry R, Wilson H, Robinson J, Sandlin C, Tyson W, Campbell J, Porreco R, Manchester D (1989): Apparent Smith-Lemli-Opitz syndrome and Miller-Dicker syndrome in a family with segregating translocation t(7;17)(q34;pl3.1). Am J Hum Genet 34:358-365.
    • (1989) Am J Hum Genet , vol.34 , pp. 358-365
    • Berry, R.1    Wilson, H.2    Robinson, J.3    Sandlin, C.4    Tyson, W.5    Campbell, J.6    Porreco, R.7    Manchester, D.8
  • 3
    • 0023472826 scopus 로고
    • CpG islands as gene markers in the vertebrate nucleus
    • Bird, AP (1987): CpG islands as gene markers in the vertebrate nucleus. Trends Genet 3:151-156.
    • (1987) Trends Genet , vol.3 , pp. 151-156
    • Bird, A.P.1
  • 6
    • 0030044865 scopus 로고    scopus 로고
    • Localization of two metabotropic glutamate receptor genes, GMR3 and GMR8, to human chromosome 7q
    • Scherer SW, Duvosin RM, Kühn R, Heng HHQ, Belloni E, Tsui L-C (1996): Localization of two metabotropic glutamate receptor genes, GMR3 and GMR8, to human chromosome 7q. Genomics 3:230-4233.
    • (1996) Genomics , vol.3 , pp. 230-4233
    • Scherer, S.W.1    Duvosin, R.M.2    Kühn, R.3    Heng, H.H.Q.4    Belloni, E.5    Tsui, L.-C.6
  • 8
    • 0028069495 scopus 로고
    • Assignment of the human PAX4 gene to chromosome band 7q32 by fluorescence in situ hybridization
    • Tamura T, Izumikawa Y, Kishino T, Soejima H, Jinno Y, Nikawa N (1994): Assignment of the human PAX4 gene to chromosome band 7q32 by fluorescence in situ hybridization. Cytogenet Cell Genet 66:132-134.
    • (1994) Cytogenet Cell Genet , vol.66 , pp. 132-134
    • Tamura, T.1    Izumikawa, Y.2    Kishino, T.3    Soejima, H.4    Jinno, Y.5    Nikawa, N.6
  • 9
    • 0028896702 scopus 로고
    • Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome
    • Tint GS, Seller M, Hughes-Benzie R, Batta AK, Shefer A, Genest D, Irons M, Elias ER, Sälen G (1995): Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome. J Lipid Res 3:89-95.
    • (1995) J Lipid Res , vol.3 , pp. 89-95
    • Tint, G.S.1    Seller, M.2    Hughes-Benzie, R.3    Batta, A.K.4    Shefer, A.5    Genest, D.6    Irons, M.7    Elias, E.R.8    Sälen, G.9
  • 10
    • 0028345115 scopus 로고
    • Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: Probable disruption of an SLOS gene
    • Wallace MR, Zori RT, Alley TL, Whidden E, Gray BA, Williams CA (1994): Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: Probable disruption of an SLOS gene. Am J Med Genet 50:368-374.
    • (1994) Am J Med Genet , vol.50 , pp. 368-374
    • Wallace, M.R.1    Zori, R.T.2    Alley, T.L.3    Whidden, E.4    Gray, B.A.5    Williams, C.A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.