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Journal Abstract Search

170 related items for PubMed ID: 9781908

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  • 23. 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; 54(3):343-7. PubMed ID: 21362501
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  • 25. Genital anomalies in three male siblings with Simpson-Golabi-Behmel syndrome.
    Griffith CB, Probert RC, Vance GH.
    Am J Med Genet A; 2009 Nov; 149A(11):2484-8. PubMed ID: 19842194
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  • 33. Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.
    Vuillaume ML, Moizard MP, Rossignol S, Cottereau E, Vonwill S, Alessandri JL, Busa T, Colin E, Gérard M, Giuliano F, Lambert L, Lefevre M, Kotecha U, Nampoothiri S, Netchine I, Raynaud M, Brioude F, Toutain A.
    Hum Mutat; 2018 Jun; 39(6):790-805. PubMed ID: 29637653
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  • 38. Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.
    Cottereau E, Mortemousque I, Moizard MP, Bürglen L, Lacombe D, Gilbert-Dussardier B, Sigaudy S, Boute O, David A, Faivre L, Amiel J, Robertson R, Viana Ramos F, Bieth E, Odent S, Demeer B, Mathieu M, Gaillard D, Van Maldergem L, Baujat G, Maystadt I, Héron D, Verloes A, Philip N, Cormier-Daire V, Frouté MF, Pinson L, Blanchet P, Sarda P, Willems M, Jacquinet A, Ratbi I, Van Den Ende J, Lackmy-Port Lis M, Goldenberg A, Bonneau D, Rossignol S, Toutain A.
    Am J Med Genet C Semin Med Genet; 2013 May; 163C(2):92-105. PubMed ID: 23606591
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  • 39. Simpson-Golabi-Behmel syndrome: disproportionate fetal overgrowth and elevated maternal serum alpha-fetoprotein.
    Hughes-Benzie RM, Tolmie JL, McNay M, Patrick A.
    Prenat Diagn; 1994 Apr; 14(4):313-8. PubMed ID: 7520583
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  • 40. Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1.
    Schirwani S, Novelli A, Digilio MC, Bourn D, Wilson V, Roberts C, Dallapiccola B, Hobson E.
    Eur J Med Genet; 2019 Apr; 62(4):243-247. PubMed ID: 30048822
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