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Journal Abstract Search

229 related items for PubMed ID: 26043501

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  • 3. Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.
    Sohn YB, Lee CG, Ko JM, Yang JA, Yun JN, Jung EJ, Jin HS, Park SJ, Jeong SY.
    J Hum Genet; 2013 Feb; 58(2):73-7. PubMed ID: 23190751
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  • 5. Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome.
    Tong TM, Hau EW, Lo IF, Chan DH, Lam ST.
    Chin Med J (Engl); 2005 Sep 20; 118(18):1499-506. PubMed ID: 16232326
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  • 6. Genotype-phenotype correlation in patients suspected of having Sotos syndrome.
    de Boer L, Kant SG, Karperien M, van Beers L, Tjon J, Vink GR, van Tol D, Dauwerse H, le Cessie S, Beemer FA, van der Burgt I, Hamel BC, Hennekam RC, Kuhnle U, Mathijssen IB, Veenstra-Knol HE, Stumpel CT, Breuning MH, Wit JM.
    Horm Res; 2004 Sep 20; 62(4):197-207. PubMed ID: 15452385
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  • 12. MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported.
    Fagali C, Kok F, Nicola P, Kim C, Bertola D, Albano L, Koiffmann CP.
    Eur J Med Genet; 2009 Sep 20; 52(5):333-6. PubMed ID: 19596467
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  • 13. NSD1 mutations in Sotos syndrome.
    Faravelli F.
    Am J Med Genet C Semin Med Genet; 2005 Aug 15; 137C(1):24-31. PubMed ID: 16010675
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  • 15. Identification of a novel de novo nonsense mutation of the NSD1 gene in monozygotic twins discordant for Sotos syndrome.
    Han JY, Lee IG, Jang W, Shin S, Park J, Kim M.
    Clin Chim Acta; 2017 Jul 15; 470():31-35. PubMed ID: 28457852
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