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Journal Abstract Search

152 related items for PubMed ID: 16158429

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  • 2. Molecular analysis of a novel intragenic deletion in GPC3 in three cousins with Simpson-Golabi-Behmel syndrome.
    Schmidt J, Hollstein R, Kaiser FJ, Gillessen-Kaesbach G.
    Am J Med Genet A; 2017 May; 173(5):1400-1405. PubMed ID: 28371070
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  • 5. Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations.
    Yano S, Baskin B, Bagheri A, Watanabe Y, Moseley K, Nishimura A, Matsumoto N, Ray PN.
    Clin Genet; 2011 Nov; 80(5):466-71. PubMed ID: 20950395
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  • 6. Simpson-Golabi-Behmel syndrome: One family, same mutation, different outcome.
    Fernandes C, Paúl A, Venâncio MM, Ramos F.
    Am J Med Genet A; 2021 Aug; 185(8):2502-2506. PubMed ID: 34003580
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  • 7. A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome Report, antenatal findings and review.
    Weichert J, Schröer A, Amari F, Siebert R, Caliebe A, Nagel I, Gillessen-Kaesbach G, Mohrmann I, Hellenbroich Y.
    Eur J Med Genet; 2011 Aug; 54(3):343-7. PubMed ID: 21362501
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  • 9. Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene.
    Veugelers M, Cat BD, Muyldermans SY, Reekmans G, Delande N, Frints S, Legius E, Fryns JP, Schrander-Stumpel C, Weidle B, Magdalena N, David G.
    Hum Mol Genet; 2000 May 22; 9(9):1321-8. PubMed ID: 10814714
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  • 10. A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family.
    Xuan JY, Hughes-Benzie RM, MacKenzie AE.
    J Med Genet; 1999 Jan 22; 36(1):57-8. PubMed ID: 9950367
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  • 12. A clinical and molecular study of a patient with Simpson-Golabi-Behmel syndrome.
    Okamoto N, Yagi M, Imura K, Wada Y.
    J Hum Genet; 1999 Jan 22; 44(5):327-9. PubMed ID: 10496077
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  • 13. A patient with a unique frameshift mutation in GPC3, causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle.
    Villarreal DD, Villarreal H, Paez AM, Peppas D, Lynch J, Roeder E, Powers GC.
    Am J Med Genet A; 2013 Dec 22; 161A(12):3121-5. PubMed ID: 24115482
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  • 14. Simpson Golabi Behmel syndrome: progress toward understanding the molecular basis for overgrowth, malformation, and cancer predisposition.
    DeBaun MR, Ess J, Saunders S.
    Mol Genet Metab; 2001 Apr 22; 72(4):279-86. PubMed ID: 11286501
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  • 15. Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis.
    Terespolsky D, Farrell SA, Siegel-Bartelt J, Weksberg R.
    Am J Med Genet; 1995 Nov 20; 59(3):329-33. PubMed ID: 8599356
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  • 16. Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome.
    Neri G, Gurrieri F, Zanni G, Lin A.
    Am J Med Genet; 1998 Oct 02; 79(4):279-83. PubMed ID: 9781908
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  • 17. GPC4, the gene for human K-glypican, flanks GPC3 on xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome.
    Veugelers M, Vermeesch J, Watanabe K, Yamaguchi Y, Marynen P, David G.
    Genomics; 1998 Oct 01; 53(1):1-11. PubMed ID: 9787072
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  • 20. Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome.
    Pilia G, Hughes-Benzie RM, MacKenzie A, Baybayan P, Chen EY, Huber R, Neri G, Cao A, Forabosco A, Schlessinger D.
    Nat Genet; 1996 Mar 01; 12(3):241-7. PubMed ID: 8589713
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