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Volumn 98, Issue 2, 1996, Pages 228-232

Possible genetic heterogeneity in the Saethre-Chotzen syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ACROCEPHALOSYNDACTYLY; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 7P; CLINICAL ARTICLE; CYTOGENETICS; FEMALE; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; HUMAN CELL; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 0029884335     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050197     Document Type: Article
Times cited : (7)

References (14)
  • 1
    • 0026672007 scopus 로고
    • The mapping of a gene for craniosynostosis: Evidence for linkage of Saethre-Chotzen syndrome to distal chromosome 7p
    • Brueton LA, Herwerden L Van, Chotai KA, Winter RM (1992) The mapping of a gene for craniosynostosis: evidence for linkage of Saethre-Chotzen syndrome to distal chromosome 7p. J Med Genet 29:681-685
    • (1992) J Med Genet , vol.29 , pp. 681-685
    • Brueton, L.A.1    Van Herwerden, L.2    Chotai, K.A.3    Winter, R.M.4
  • 5
    • 0028287077 scopus 로고
    • Evidence for locus heterogeneity in acrocephalosyndactyly: A refined localization for Saethre-Chotzen syndrome locus on distal chromosome 7p and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q
    • Herwerden L Van, Rose CSP, Reardon W, Brueton LA, Weissenbach J, Malcom S, Winter RM (1994) Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for Saethre-Chotzen syndrome locus on distal chromosome 7p and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q. Am J Med Genet 54:669-674
    • (1994) Am J Med Genet , vol.54 , pp. 669-674
    • Van Herwerden, L.1    Rose, C.S.P.2    Reardon, W.3    Brueton, L.A.4    Weissenbach, J.5    Malcom, S.6    Winter, R.M.7
  • 8
    • 0028263955 scopus 로고
    • Saethre-Chotzen syndrome
    • Reardon W, Winter RM (1994) Saethre-Chotzen syndrome. J Med Genet 31:393-396
    • (1994) J Med Genet , vol.31 , pp. 393-396
    • Reardon, W.1    Winter, R.M.2
  • 9
    • 0027371033 scopus 로고
    • Cytogenetic evidence that the Saethre-Chotzen syndrome gene maps to 7p21.2
    • Reardon W, McManus SP, Summers D, Winter RM (1993) Cytogenetic evidence that the Saethre-Chotzen syndrome gene maps to 7p21.2. Am J Med Genet 47:633-636
    • (1993) Am J Med Genet , vol.47 , pp. 633-636
    • Reardon, W.1    McManus, S.P.2    Summers, D.3    Winter, R.M.4
  • 11
    • 0028086295 scopus 로고
    • Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2
    • Rose CSP, King AAJ, Summers D, Palmer R, Yang S, Wilkie AOM, Reardon W, Malsom S, Winter RM (1994) Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2. Hum Mol Genet 3:1405-1408
    • (1994) Hum Mol Genet , vol.3 , pp. 1405-1408
    • Rose, C.S.P.1    King, A.A.J.2    Summers, D.3    Palmer, R.4    Yang, S.5    Wilkie, A.O.M.6    Reardon, W.7    Malsom, S.8    Winter, R.M.9
  • 12
    • 0028054672 scopus 로고
    • Craniosynostosis and hemizygosity for D7S135 caused by a de novo and apparently balanced t(6;7) translocation
    • Tsuji K, Nahara K, Kikkawa K, Murakami M, Yokohama Y, Ninomiya S, Seino Y (1994) Craniosynostosis and hemizygosity for D7S135 caused by a de novo and apparently balanced t(6;7) translocation. Am J Med Genet 49:98-102
    • (1994) Am J Med Genet , vol.49 , pp. 98-102
    • Tsuji, K.1    Nahara, K.2    Kikkawa, K.3    Murakami, M.4    Yokohama, Y.5    Ninomiya, S.6    Seino, Y.7
  • 13
    • 0028918665 scopus 로고
    • The breakpoint on 7p in a patient with t(6;7) and craniosynostosis is spanned by a Yac clone containing the D7S503 locus
    • Tsuji K, Narahara K, Yokohama Y, Grzeschik KH, Hunz J (1995) The breakpoint on 7p in a patient with t(6;7) and craniosynostosis is spanned by a Yac clone containing the D7S503 locus. Hum Genet 95:303-307
    • (1995) Hum Genet , vol.95 , pp. 303-307
    • Tsuji, K.1    Narahara, K.2    Yokohama, Y.3    Grzeschik, K.H.4    Hunz, J.5
  • 14
    • 0028969485 scopus 로고
    • Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: Three further families
    • Wilkie AOM, Yang SP, Summers D, Poole MD, Reardon W, Winter RM (1995) Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families. J Med Genet 32:174-180
    • (1995) J Med Genet , vol.32 , pp. 174-180
    • Wilkie, A.O.M.1    Yang, S.P.2    Summers, D.3    Poole, M.D.4    Reardon, W.5    Winter, R.M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.