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Journal Abstract Search

150 related items for PubMed ID: 8266989

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  • 2. Cytogenetic evidence that the Saethre-Chotzen gene maps to 7p21.2.
    Reardon W, McManus SP, Summers D, Winter RM.
    Am J Med Genet; 1993 Oct 01; 47(5):633-6. PubMed ID: 8266988
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  • 5. Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome.
    Krebs I, Weis I, Hudler M, Rommens JM, Roth H, Scherer SW, Tsui LC, Füchtbauer EM, Grzeschik KH, Tsuji K, Kunz J.
    Hum Mol Genet; 1997 Jul 01; 6(7):1079-86. PubMed ID: 9215678
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  • 6. The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases.
    Rose CS, Patel P, Reardon W, Malcolm S, Winter RM.
    Hum Mol Genet; 1997 Aug 01; 6(8):1369-73. PubMed ID: 9259286
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  • 9. A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre-Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-oc.
    De Marco P, Raso A, Beri S, Gimelli S, Merello E, Mascelli S, Baldi M, Baffico AM, Pavanello M, Cama A, Capra V, Giorda R, Gimelli G.
    Eur J Med Genet; 2011 Aug 01; 54(5):e478-83. PubMed ID: 21708297
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  • 10. Postnatal onset of craniosynostosis in a case of Saethre-Chotzen syndrome.
    de Heer IM, Hoogeboom J, Vermeij-Keers C, de Klein A, Vaandrager JM.
    J Craniofac Surg; 2004 Nov 01; 15(6):1048-52. PubMed ID: 15547403
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  • 11. Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis.
    Shetty S, Boycott KM, Gillan TL, Bowser K, Parboosingh JS, McInnes B, Chernos JE, Bernier FP.
    Clin Dysmorphol; 2007 Oct 01; 16(4):253-6. PubMed ID: 17786117
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  • 12. TWIST microdeletion identified by array CGH in a patient presenting Saethre-Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7.
    Schluth-Bolard C, Till M, Labalme A, Rey C, Banquart E, Fautrelle A, Martin-Denavit T, Le Lorc'h M, Romana SP, Lazar V, Edery P, Sanlaville D.
    Eur J Med Genet; 2008 Oct 01; 51(2):156-64. PubMed ID: 18255367
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  • 15. Genetic analysis of patients with the Saethre-Chotzen phenotype.
    Chun K, Teebi AS, Jung JH, Kennedy S, Laframboise R, Meschino WS, Nakabayashi K, Scherer SW, Ray PN, Teshima I.
    Am J Med Genet; 2002 Jun 15; 110(2):136-43. PubMed ID: 12116251
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  • 16. Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.
    Howard TD, Paznekas WA, Green ED, Chiang LC, Ma N, Ortiz de Luna RI, Garcia Delgado C, Gonzalez-Ramos M, Kline AD, Jabs EW.
    Nat Genet; 1997 Jan 15; 15(1):36-41. PubMed ID: 8988166
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  • 17. The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p.
    Brueton LA, van Herwerden L, Chotai KA, Winter RM.
    J Med Genet; 1992 Oct 15; 29(10):681-5. PubMed ID: 1433226
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  • 18. Possible genetic heterogeneity in the Saethre-Chotzen syndrome.
    Ma HW, Lajeunie E, de Parseval N, Munnich A, Renier D, Le Merrer M.
    Hum Genet; 1996 Aug 15; 98(2):228-32. PubMed ID: 8698349
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  • 20. Identification of a cryptic t(5;7) reciprocal translocation by fluorescent in situ hybridization.
    Bernstein R, Bocian ME, Cain MJ, Bengtsson U, Wasmuth JJ.
    Am J Med Genet; 1993 Apr 01; 46(1):77-82. PubMed ID: 8494035
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