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Items: 1 to 20 of 101

1.

Metastatic medulloblastoma in an adolescent with Simpson-Golabi-Behmel syndrome.

Thomas M, Enciso V, Stratton R, Shah S, Winder T, Tayeh M, Roeder E.

Am J Med Genet A. 2012 Oct;158A(10):2534-6. doi: 10.1002/ajmg.a.35284. Epub 2012 Aug 14.

PMID:
22893378
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.

PMID:
10814714
3.

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.

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-Jun;54(3):343-7. doi: 10.1016/j.ejmg.2011.02.009. Epub 2011 Mar 21. Review.

PMID:
21362501
5.

The Simpson-Golabi-Behmel gene, GPC3, is not involved in sporadic Wilms tumorigenesis.

Gillan TL, Hughes R, Godbout R, Grundy PE.

Am J Med Genet A. 2003 Sep 15;122A(1):30-6.

PMID:
12949968
6.

Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome.

Rodríguez-Criado G, Magano L, Segovia M, Gurrieri F, Neri G, González-Meneses A, Gómez de Terreros I, Valdéz R, Gracia R, Lapunzina P.

Am J Med Genet A. 2005 Oct 15;138A(3):272-7.

PMID:
16158429
7.

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. doi: 10.1002/ajmg.a.38188. Epub 2017 Mar 29.

PMID:
28371070
8.

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
9.

Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome.

Pénisson-Besnier I, Lebouvier T, Moizard MP, Ferré M, Barth M, Marc G, Raynaud M, Bonneau D.

Am J Med Genet A. 2008 Feb 15;146A(4):464-7. doi: 10.1002/ajmg.a.32154.

PMID:
18203194
10.

The Simpson-Golabi-Behmel syndrome: A clinical case and a detective story.

Gurrieri F, Pomponi MG, Pietrobono R, Lucci-Cordisco E, Silvestri E, Storniello G, Neri G.

Am J Med Genet A. 2011 Jan;155A(1):145-8. doi: 10.1002/ajmg.a.33586. Epub 2010 Dec 9.

PMID:
21204223
11.

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. doi: 10.1111/j.1399-0004.2010.01554.x. Epub 2010 Oct 18.

PMID:
20950395
12.
13.

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. doi: 10.1002/ajmg.c.31360. Epub 2013 Apr 18. Review.

PMID:
23606591
14.

GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome.

Sakazume S, Okamoto N, Yamamoto T, Kurosawa K, Numabe H, Ohashi Y, Kako Y, Nagai T, Ohashi H.

Am J Med Genet A. 2007 Aug 1;143A(15):1703-7.

PMID:
17603795
15.

Twenty-one years to the right diagnosis - clinical overlap of Simpson-Golabi-Behmel and Beckwith-Wiedemann syndrome.

Knopp C, Rudnik-Schöneborn S, Zerres K, Gencik M, Spengler S, Eggermann T.

Am J Med Genet A. 2015 Jan;167A(1):151-5. doi: 10.1002/ajmg.a.36825. Epub 2014 Oct 22.

PMID:
25339544
16.
17.

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. doi: 10.1002/ajmg.a.36086. Epub 2013 Oct 2. Erratum in: Am J Med Genet A. 2014 Jul;164A(7):1872.

PMID:
24115482
18.

Clinical overlap of Beckwith-Wiedemann, Perlman and Simpson-Golabi-Behmel syndromes: a diagnostic pitfall.

Verloes A, Massart B, Dehalleux I, Langhendries JP, Koulischer L.

Clin Genet. 1995 May;47(5):257-62.

PMID:
7554352
19.

Speech and language in Simpson-Golabi-Behmel syndrome: a case report.

Van Borsel J, Baudonck N, Verhaaren H, Van Lierde K.

Genet Couns. 2008;19(2):241-9.

PMID:
18619000
20.

Cardiac anomalies in the Simpson-Golabi-Behmel syndrome.

Lin AE, Neri G, Hughes-Benzie R, Weksberg R.

Am J Med Genet. 1999 Apr 23;83(5):378-81. Review.

PMID:
10232747

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