153 related articles for article (PubMed ID: 17603795)
1. 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; 143A(15):1703-7. PubMed ID: 17603795
[TBL] [Abstract][Full Text] [Related]
2. 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
[TBL] [Abstract][Full Text] [Related]
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; 102(2):161-8. PubMed ID: 11477610
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 9192268
[TBL] [Abstract][Full Text] [Related]
5. 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; 9(9):1321-8. PubMed ID: 10814714
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 10496077
[TBL] [Abstract][Full Text] [Related]
7. 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; 53(1):1-11. PubMed ID: 9787072
[TBL] [Abstract][Full Text] [Related]
8. 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
[TBL] [Abstract][Full Text] [Related]
9. 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
[TBL] [Abstract][Full Text] [Related]
10. 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
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 8589713
[TBL] [Abstract][Full Text] [Related]
12. 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; 146(1):255-64. PubMed ID: 10402475
[TBL] [Abstract][Full Text] [Related]
13. 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; 138A(3):272-7. PubMed ID: 16158429
[TBL] [Abstract][Full Text] [Related]
14. 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; 146A(4):464-7. PubMed ID: 18203194
[TBL] [Abstract][Full Text] [Related]
15. 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; 66(2):227-34. PubMed ID: 8958336
[TBL] [Abstract][Full Text] [Related]
16. 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
[TBL] [Abstract][Full Text] [Related]
17. Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome.
Neri G; Gurrieri F; Zanni G; Lin A
Am J Med Genet; 1998 Oct; 79(4):279-83. PubMed ID: 9781908
[TBL] [Abstract][Full Text] [Related]
18. 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
[TBL] [Abstract][Full Text] [Related]
19. Analysis of exon/intron structure and 400 kb of genomic sequence surrounding the 5'-promoter and 3'-terminal ends of the human glypican 3 (GPC3) gene.
Huber R; Crisponi L; Mazzarella R; Chen CN; Su Y; Shizuya H; Chen EY; Cao A; Pilia G
Genomics; 1997 Oct; 45(1):48-58. PubMed ID: 9339360
[TBL] [Abstract][Full Text] [Related]
20. Simpson-Golabi-Behmel syndrome type 1 and hepatoblastoma in a patient with a novel exon 2-4 duplication of the GPC3 gene.
Mateos ME; Beyer K; López-Laso E; Siles JL; Pérez-Navero JL; Peña MJ; Guzmán J; Matas J
Am J Med Genet A; 2013 May; 161A(5):1091-5. PubMed ID: 23463737
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]