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152 related items for PubMed ID: 35354337

  • 1. Postnatal Progressive Craniosynostosis in Syndromic Conditions: Two Patients With Saethre-Chotzen Due to TWIST1 Gene Deletions and Review of the Literature.
    Alawneh RJ, Johnson AL, Hoover-Fong JE, Jackson EM, Steinberg JP, MacCarrick G.
    Cleft Palate Craniofac J; 2023 Aug; 60(8):1021-1028. PubMed ID: 35354337
    [Abstract] [Full Text] [Related]

  • 2. Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.
    Woods RH, Ul-Haq E, Wilkie AOM, Jayamohan J, Richards PG, Johnson D, Lester T, Wall SA.
    Plast Reconstr Surg; 2009 Jun; 123(6):1801-1810. PubMed ID: 19483581
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  • 3. 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; 15(6):1048-52. PubMed ID: 15547403
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  • 4. Prenatal diagnosis of a 7p15-p21 deletion encompassing the TWIST1 gene involved in Saethre-Chotzen syndrome.
    Spaggiari E, Aboura A, Sinico M, Mabboux P, Dupont C, Delezoide AL, Guimiot F.
    Eur J Med Genet; 2012 Nov; 55(8-9):498-501. PubMed ID: 22569119
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  • 5. Clinical and genetic characteristics of craniosynostosis in Hungary.
    Bessenyei B, Nagy A, Szakszon K, Mokánszki A, Balogh E, Ujfalusi A, Tihanyi M, Novák L, Bognár L, Oláh É.
    Am J Med Genet A; 2015 Dec; 167A(12):2985-91. PubMed ID: 26289989
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  • 6. 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; 115(7):1894-902; discussion 1903-5. PubMed ID: 15923834
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  • 7. Pharmacological targeting of KDM6A and KDM6B, as a novel therapeutic strategy for treating craniosynostosis in Saethre-Chotzen syndrome.
    Pribadi C, Camp E, Cakouros D, Anderson P, Glackin C, Gronthos S.
    Stem Cell Res Ther; 2020 Dec 09; 11(1):529. PubMed ID: 33298158
    [Abstract] [Full Text] [Related]

  • 8. The natural history of patients treated for TWIST1-confirmed Saethre-Chotzen syndrome.
    Foo R, Guo Y, McDonald-McGinn DM, Zackai EH, Whitaker LA, Bartlett SP.
    Plast Reconstr Surg; 2009 Dec 09; 124(6):2085-2095. PubMed ID: 19952666
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  • 9. Saethre–Chotzen syndrome with an atypical phenotype: identification of TWIST microdeletion by array CGH.
    Cho E, Yang TH, Shin ES, Byeon JH, Kim GH, Eun BL.
    Childs Nerv Syst; 2013 Nov 09; 29(11):2101-4. PubMed ID: 23958897
    [Abstract] [Full Text] [Related]

  • 10. Microdeletions of 5.5 Mb (4q13.2-q13.3) and 4.1 Mb (7p15.3-p21.1) associated with a saethre-chotzen-like phenotype, severe intellectual disability, and autism.
    Shimada S, Okamoto N, Nomura S, Fukui M, Shimakawa S, Sangu N, Shimojima K, Osawa M, Yamamoto T.
    Am J Med Genet A; 2013 Aug 09; 161A(8):2078-83. PubMed ID: 23825006
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  • 12. 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 09; 85(7):541-4. PubMed ID: 25118508
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  • 15. Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome.
    Zhou Y, Koelling N, Fenwick AL, McGowan SJ, Calpena E, Wall SA, Smithson SF, Wilkie AOM, Twigg SRF.
    Hum Mutat; 2018 Oct 09; 39(10):1360-1365. PubMed ID: 30040876
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  • 17. Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution.
    Takenouchi T, Sakamoto Y, Sato H, Suzuki H, Uehara T, Ohsone Y, Kosaki K.
    Am J Med Genet A; 2018 Dec 09; 176(12):2777-2780. PubMed ID: 30450715
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  • 18. Mutations in snail family genes enhance craniosynostosis of Twist1 haplo-insufficient mice: implications for Saethre-Chotzen Syndrome.
    Oram KF, Gridley T.
    Genetics; 2005 Jun 09; 170(2):971-4. PubMed ID: 15802514
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  • 20. 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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