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Journal Abstract Search
249 related items for PubMed ID: 11477610
1. 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]
2. 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]
3. Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome. Lindsay S, Ireland M, O'Brien O, Clayton-Smith J, Hurst JA, Mann J, Cole T, Sampson J, Slaney S, Schlessinger D, Burn J, Pilia G. J Med Genet; 1997 Jun 22; 34(6):480-3. PubMed ID: 9192268 [Abstract] [Full Text] [Related]
4. 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 [Abstract] [Full Text] [Related]
5. 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 [Abstract] [Full Text] [Related]
6. 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]
7. Glypican-3-deficient mice exhibit developmental overgrowth and some of the abnormalities typical of Simpson-Golabi-Behmel syndrome. Cano-Gauci DF, Song HH, Yang H, McKerlie C, Choo B, Shi W, Pullano R, Piscione TD, Grisaru S, Soon S, Sedlackova L, Tanswell AK, Mak TW, Yeger H, Lockwood GA, Rosenblum ND, Filmus J. J Cell Biol; 1999 Jul 12; 146(1):255-64. PubMed ID: 10402475 [Abstract] [Full Text] [Related]
8. Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families. Hughes-Benzie RM, Pilia G, Xuan JY, Hunter AG, Chen E, Golabi M, Hurst JA, Kobori J, Marymee K, Pagon RA, Punnett HH, Schelley S, Tolmie JL, Wohlferd MM, Grossman T, Schlessinger D, MacKenzie AE. Am J Med Genet; 1996 Dec 11; 66(2):227-34. PubMed ID: 8958336 [Abstract] [Full Text] [Related]
9. 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 11; 173(5):1400-1405. PubMed ID: 28371070 [Abstract] [Full Text] [Related]
10. Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: patient report and review of the literature. Mariani S, Iughetti L, Bertorelli R, Coviello D, Pellegrini M, Forabosco A, Bernasconi S. J Pediatr Endocrinol Metab; 2003 Feb 11; 16(2):225-32. PubMed ID: 12713262 [Abstract] [Full Text] [Related]
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 Feb 11; 44(5):327-9. PubMed ID: 10496077 [Abstract] [Full Text] [Related]
13. Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome. Brzustowicz LM, Farrell S, Khan MB, Weksberg R. Am J Hum Genet; 1999 Sep 11; 65(3):779-83. PubMed ID: 10441586 [Abstract] [Full Text] [Related]
19. 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 28; 39(6):790-805. PubMed ID: 29637653 [Abstract] [Full Text] [Related]