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Volumn 19, Issue , 2011, Pages 98-106

Saethre-chotzen syndrome: Clinical and molecular genetic aspects

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EID: 84870048712     PISSN: 00770876     EISSN: 16623835     Source Type: Book Series    
DOI: 10.1159/000318391     Document Type: Article
Times cited : (2)

References (21)
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  • 5
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    • The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases
    • DOI 10.1093/hmg/6.8.1369
    • Rose CS, Patel P, Reardon W, Malcolm S, Winter RM: The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases. Hum Mol Genet 1997;6:1369-1373. (Pubitemid 27351080)
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  • 10
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    • Saethre-Chotzen syndrome
    • Cohen MM, McLean RE eds:, New York, Oxford University Press
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    • (2000) Craniosynostosis - Diagnosis, Evaluation, and Management , pp. 374-376
    • Cohen, M.M.1
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    • A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1
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  • 12
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    • (2003) Pediatric Radiology , vol.33 , Issue.3 , pp. 168-172
    • Trusen, A.1    Beissert, M.2    Collmann, H.3    Darge, K.4
  • 14
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    • James PA, Culling B, Mullan G, Jenkins M, Elakis G, et al: Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study. Genes Chromosomes Cancer 2009;48:533-538.
    • (2009) Genes Chromosomes Cancer , vol.48 , pp. 533-538
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  • 15
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    • 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: The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p. J Med Genet 1992;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
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    • A Twist in fate: Evolutionary comparison of Twist structure and function
    • DOI 10.1016/S0378-1119(01)00893-9, PII S0378111901008939
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    • Castanon, I.1    Baylies, M.K.2
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    • DOI 10.1002/bies.20313
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    • Cai, J.1    Jabs, E.W.2
  • 21
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    • The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome
    • Bourgeois P, Bolcato-Bellemin A-L, Danse J-M, Bloch-Zupan A, Yoshiba K, et al: The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome. Hum Mol Genet 1998;7:945-949.
    • (1998) Hum Mol Genet , vol.7 , pp. 945-949
    • Bourgeois, P.1    Bolcato-Bellemin, A.-L.2    Danse, J.-M.3    Bloch-Zupan, A.4    Yoshiba, K.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.