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Volumn 97, Issue 2, 1996, Pages 186-193

Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOME; CHROMOSOME 17Q; CHROMOSOME 6Q; CHROMOSOME BREAKAGE; CHROMOSOME MAP; CHROMOSOME TRANSLOCATION; CONTROLLED STUDY; CYTOGENETICS; DNA POLYMORPHISM; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; INFANT; LYMPHOBLASTOID CELL; PRIORITY JOURNAL; PULSED FIELD GEL ELECTROPHORESIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEX TRANSFORMATION; SKELETON MALFORMATION;

EID: 0030057538     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02265263     Document Type: Article
Times cited : (89)

References (27)
  • 1
    • 0025369509 scopus 로고
    • A 3.5 genome equivalent multi access YAC library: Construction, characterization, screening and storage
    • Anand R. Riley JH, Butler R, Smith JC, Markham AF (1990) A 3.5 genome equivalent multi access YAC library: construction, characterization, screening and storage. Nucleic Acids Res 18: 1951-1956
    • (1990) Nucleic Acids Res , vol.18 , pp. 1951-1956
    • Anand, R.1    Riley, J.H.2    Butler, R.3    Smith, J.C.4    Markham, A.F.5
  • 2
    • 0013825018 scopus 로고
    • Genetic control over the inactivation of autosomal genes attached to the X chromosome
    • Cattanach BM, Isaacson JH (1965) Genetic control over the inactivation of autosomal genes attached to the X chromosome. Z Vererb 96: 313-323
    • (1965) Z Vererb , vol.96 , pp. 313-323
    • Cattanach, B.M.1    Isaacson, J.H.2
  • 3
    • 10144254790 scopus 로고
    • Campomelic dysplasia with sex reversal associated with an apparently balanced paracentric inversion within the long arm of chromosome 17
    • Chatters S, Whitecross N (1994) Campomelic dysplasia with sex reversal associated with an apparently balanced paracentric inversion within the long arm of chromosome 17. Clin Cytogenet Bull 2: 12-13
    • (1994) Clin Cytogenet Bull , vol.2 , pp. 12-13
    • Chatters, S.1    Whitecross, N.2
  • 6
    • 0020793569 scopus 로고
    • A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
    • Feinberg AP, Vogelstein B (1983) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 132: 6-13
    • (1983) Anal Biochem , vol.132 , pp. 6-13
    • Feinberg, A.P.1    Vogelstein, B.2
  • 8
    • 0025016822 scopus 로고
    • Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction
    • Green ED, Olson MV (1990) Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction. Proc Natl Acad Sci USA 87: 1213-1217
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 1213-1217
    • Green, E.D.1    Olson, M.V.2
  • 10
    • 0024596932 scopus 로고
    • Three breakpoints of variant t(2;8) translocations in Burkitt's lymphoma cells fall within a region 140 kilobases distal from c-myc
    • Henglein B, Synovzik H, Groitl P, Bornkamm GW, Hartl P, Lipp M (1989) Three breakpoints of variant t(2;8) translocations in Burkitt's lymphoma cells fall within a region 140 kilobases distal from c-myc. Mol Cell Biol 9: 2105-2113
    • (1989) Mol Cell Biol , vol.9 , pp. 2105-2113
    • Henglein, B.1    Synovzik, H.2    Groitl, P.3    Bornkamm, G.W.4    Hartl, P.5    Lipp, M.6
  • 11
  • 12
    • 0027209470 scopus 로고
    • High-resolution cytogenetic mapping of 342 new cosmid markers including 43 RFLP markers on human chromosome 17 by fluorescence in situ hybridization
    • Inazawa J, Saito H, Ariyama T, Abe T, Nakamura Y (1993) High-resolution cytogenetic mapping of 342 new cosmid markers including 43 RFLP markers on human chromosome 17 by fluorescence in situ hybridization. Genomics 17: 153-162
    • (1993) Genomics , vol.17 , pp. 153-162
    • Inazawa, J.1    Saito, H.2    Ariyama, T.3    Abe, T.4    Nakamura, Y.5
  • 13
    • 0026952830 scopus 로고
    • Variable breakpoints in Burkirt lymphoma cells with chromosomal t(8;14) translocation separate c-myc and the IgH locus up to serveral hundred kb
    • Joos S, Falk MH, Lichter P, Hahiska FG, Henglein B, Lenoir GM, Bornkamm GW (1992) Variable breakpoints in Burkirt lymphoma cells with chromosomal t(8;14) translocation separate c-myc and the IgH locus up to serveral hundred kb. Hum Mol Genet 8: 625-632
    • (1992) Hum Mol Genet , vol.8 , pp. 625-632
    • Joos, S.1    Falk, M.H.2    Lichter, P.3    Hahiska, F.G.4    Henglein, B.5    Lenoir, G.M.6    Bornkamm, G.W.7
  • 15
    • 0026725180 scopus 로고
    • Fluorescence in situ hybridization of YAC clones after Alu-PCR amplification
    • Lengauer C, Green ED, Cremer T(1992) Fluorescence in situ hybridization of YAC clones after Alu-PCR amplification. Genomics 13: 826-828
    • (1992) Genomics , vol.13 , pp. 826-828
    • Lengauer, C.1    Green, E.D.2    Cremer, T.3
  • 17
    • 0025849663 scopus 로고
    • A chromosome 17q de novo paracentric inversion in a patient with campomelic dysplasia: Case report and etiologic hypothesis
    • Maraia R, Saal HM. Wangsa D (1991) A chromosome 17q de novo paracentric inversion in a patient with campomelic dysplasia: case report and etiologic hypothesis. Clin Genet 39: 401-408
    • (1991) Clin Genet , vol.39 , pp. 401-408
    • Maraia, R.1    Saal, H.M.2    Wangsa, D.3
  • 22
    • 0025309467 scopus 로고
    • Human globin locus activation region (LAR): Role in temporal control
    • Townes TM, Behringer RR (1990) Human globin locus activation region (LAR): role in temporal control. Trends Genet 6: 219-223
    • (1990) Trends Genet , vol.6 , pp. 219-223
    • Townes, T.M.1    Behringer, R.R.2
  • 23
    • 0025812172 scopus 로고
    • GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families
    • Vortkamp A, Gessler M, Grzeschik K-H (1991) GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families. Nature 352: 539-540
    • (1991) Nature , vol.352 , pp. 539-540
    • Vortkamp, A.1    Gessler, M.2    Grzeschik, K.-H.3
  • 26
    • 0026528250 scopus 로고
    • Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation
    • Young ID, Zuccolo JM, Maltby EL, Broderick NJ (1992) Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation. J Med Genet 29: 251-252
    • (1992) J Med Genet , vol.29 , pp. 251-252
    • Young, I.D.1    Zuccolo, J.M.2    Maltby, E.L.3    Broderick, N.J.4
  • 27
    • 0024791007 scopus 로고
    • Position-effect variegation and intercalary heterochromatin: A comparative study
    • Zhimulev IF, Belyaeva ES, Bolshakov VN, Mal'ceva NI (1989) Position-effect variegation and intercalary heterochromatin: a comparative study. Chromosoma 98: 378-387
    • (1989) Chromosoma , vol.98 , pp. 378-387
    • Zhimulev, I.F.1    Belyaeva, E.S.2    Bolshakov, V.N.3    Mal'ceva, N.I.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.