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Items: 1 to 20 of 114

1.

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.

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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 1;102(2):161-8.

PMID:
11477610
4.

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;12(3):241-7.

PMID:
8589713
5.

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;44(5):327-9.

PMID:
10496077
6.

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.

PMID:
10814714
7.

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;34(6):480-3.

8.

Gpc3 expression correlates with the phenotype of the Simpson-Golabi-Behmel syndrome.

Pellegrini M, Pilia G, Pantano S, Lucchini F, Uda M, Fumi M, Cao A, Schlessinger D, Forabosco A.

Dev Dyn. 1998 Dec;213(4):431-9.

9.

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 1;53(1):1-11.

PMID:
9787072
10.

Overgrowth of a mouse model of the Simpson-Golabi-Behmel syndrome is independent of IGF signaling.

Chiao E, Fisher P, Crisponi L, Deiana M, Dragatsis I, Schlessinger D, Pilia G, Efstratiadis A.

Dev Biol. 2002 Mar 1;243(1):185-206.

11.

Overgrowth syndromes and genomic imprinting: from mouse to man.

Li M, Squire JA, Weksberg R.

Clin Genet. 1998 Mar;53(3):165-70. Review.

PMID:
9630066
12.

Glypican 3 and glypican 4 are juxtaposed in Xq26.1.

Huber R, Mazzarella R, Chen CN, Chen E, Ireland M, Lindsay S, Pilia G, Crisponi L.

Gene. 1998 Dec 28;225(1-2):9-16.

PMID:
9931407
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14.

Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes.

Eggenschwiler J, Ludwig T, Fisher P, Leighton PA, Tilghman SM, Efstratiadis A.

Genes Dev. 1997 Dec 1;11(23):3128-42.

15.

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;65(3):779-83.

16.

Mapping of the Simpson-Golabi-Behmel overgrowth syndrome gene (GPC3) to chromosome X in human and rat by fluorescence in situ hybridization.

Shen T, Sonoda G, Hamid J, Li M, Filmus J, Buick RN, Testa JR.

Mamm Genome. 1997 Jan;8(1):72. No abstract available.

PMID:
9021160
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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;16(2):225-32.

PMID:
12713262
20.

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.

PMID:
8958336

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