278 related articles for article (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
[TBL] [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
[TBL] [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; 52(5):525-8. PubMed ID: 21434539
[TBL] [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
[TBL] [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
[TBL] [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
[TBL] [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; 54(3):343-7. PubMed ID: 21362501
[TBL] [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
[TBL] [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
[TBL] [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
[TBL] [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
[TBL] [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
[TBL] [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
[TBL] [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
[TBL] [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
[TBL] [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
[TBL] [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; 9(9):1321-8. PubMed ID: 10814714
[TBL] [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; 102(2):161-8. PubMed ID: 11477610
[TBL] [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; 12(3):241-7. PubMed ID: 8589713
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
