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281 related items for PubMed ID: 20950395

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome.
    Ratbi I, Elalaoui SC, Moizard MP, Raynaud M, Sefiani A.
    Turk J Pediatr; 2010 May; 52(5):525-8. PubMed ID: 21434539
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 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 May; 54(3):343-7. PubMed ID: 21362501
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. CUGC for Simpson-Golabi-Behmel syndrome (SGBS).
    Vuillaume ML, Moizard MP, Baumer A, Cottereau E, Brioude F, Rauch A, Toutain A.
    Eur J Hum Genet; 2019 Apr; 27(4):663-668. PubMed ID: 30683921
    [Abstract] [Full Text] [Related]

  • 10. 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; 72(4):279-86. PubMed ID: 11286501
    [Abstract] [Full Text] [Related]

  • 11. 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; 161A(12):3121-5. PubMed ID: 24115482
    [Abstract] [Full Text] [Related]

  • 12. Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue.
    Vaisfeld A, Pomponi MG, Pietrobono R, Tabolacci E, Neri G.
    Am J Med Genet A; 2017 Jan; 173(1):285-288. PubMed ID: 27739211
    [Abstract] [Full Text] [Related]

  • 13. Simpson-Golabi-Behmel syndrome in a 39-year-old male patient with suspected acromegaly-A case study.
    Andrysiak-Mamos E, Sagan KP, Lietz-Kijak D, Kijak E, Kaźmierczak B, Pietrzyk A, Sowinska-Przepiera E, Sagan L, Syrenicz A.
    Am J Med Genet A; 2019 Feb; 179(2):322-328. PubMed ID: 30592149
    [Abstract] [Full Text] [Related]

  • 14. Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation.
    Kosaki R, Takenouchi T, Takeda N, Kagami M, Nakabayashi K, Hata K, Kosaki K.
    Am J Med Genet A; 2014 Apr; 164A(4):993-7. PubMed ID: 24459012
    [Abstract] [Full Text] [Related]

  • 15. Distinctive findings in a boy with Simpson-Golabi-Behmel syndrome.
    Halayem S, Hamza M, Maazoul F, Ben Turkia H, Touati M, Tebib N, Mrad R, Bouden A.
    Am J Med Genet A; 2016 Apr; 170A(4):1035-9. PubMed ID: 26692054
    [Abstract] [Full Text] [Related]

  • 16. Nonisolated diaphragmatic hernia in Simpson-Golabi-Behmel syndrome.
    Chong K, Saleh M, Injeyan M, Miron I, Fong K, Shannon P.
    Prenat Diagn; 2018 Jan; 38(2):117-122. PubMed ID: 29240237
    [Abstract] [Full Text] [Related]

  • 17. Paternal germline mosaicism for a GPC3 deletion in X-linked Simpson-Golabi-Behmel syndrome.
    Agatep R, Shuman C, Steele L, Parkinson N, Weksberg R, Stockley TL.
    Am J Med Genet A; 2014 Oct; 164A(10):2682-4. PubMed ID: 25073799
    [No Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome.
    Li M, Shuman C, Fei YL, Cutiongco E, Bender HA, Stevens C, Wilkins-Haug L, Day-Salvatore D, Yong SL, Geraghty MT, Squire J, Weksberg R.
    Am J Med Genet; 2001 Aug 01; 102(2):161-8. PubMed ID: 11477610
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

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