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Journal Abstract Search

253 related items for PubMed ID: 18019370

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  • 3. Saethre-Chotzen syndrome with familial translocation at chromosome 7p22.
    Reid CS, McMorrow LE, McDonald-McGinn DM, Grace KJ, Ramos FJ, Zackai EH, Cohen MM, Jabs EW.
    Am J Med Genet; 1993 Oct 01; 47(5):637-9. PubMed ID: 8266989
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  • 4. 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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  • 8. 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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  • 10. 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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  • 11. A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.
    Johnson D, Horsley SW, Moloney DM, Oldridge M, Twigg SR, Walsh S, Barrow M, Njølstad PR, Kunz J, Ashworth GJ, Wall SA, Kearney L, Wilkie AO.
    Am J Hum Genet; 1998 Nov 15; 63(5):1282-93. PubMed ID: 9792856
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  • 12. Clinical and genetic analysis of patients with Saethre-Chotzen syndrome.
    de Heer IM, de Klein A, van den Ouweland AM, Vermeij-Keers C, Wouters CH, Vaandrager JM, Hovius SE, Hoogeboom JM.
    Plast Reconstr Surg; 2005 Jun 15; 115(7):1894-902; discussion 1903-5. PubMed ID: 15923834
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  • 14. Spectral karyotyping and fluorescence in situ hybridization analysis of de novo partial trisomy 7p (7p21.2-->pter) and partial monosomy 12q (12q24.33-->qter).
    Chen CP, Lin SP, Lin CC, Li YC, Hsieh LJ, Huang JK, Lee CC, Wang W.
    Genet Couns; 2006 Jun 15; 17(1):57-63. PubMed ID: 16719278
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  • 15. 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. 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 15; 6(7):1079-86. PubMed ID: 9215678
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  • 18. Prenatal diagnosis of craniosynostosis (compound Saethre-Chotzen syndrome phenotype) caused by a de novo complex chromosomal rearrangement (1; 4; 7) with a microdeletion of 7p21.3-7p15.3, including TWIST1 gene--a case report.
    Massalska D, Bijok J, Kucińska-Chahwan A, Jamsheer A, Bogdanowicz J, Jakiel G, Roszkowski T.
    Ginekol Pol; 2014 Jul 15; 85(7):541-4. PubMed ID: 25118508
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  • 20. Craniosynostosis in Twist heterozygous mice: a model for Saethre-Chotzen syndrome.
    Carver EA, Oram KF, Gridley T.
    Anat Rec; 2002 Oct 01; 268(2):90-2. PubMed ID: 12221714
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