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2. 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]
3. 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]
4. Simpson-Golabi-Behmel syndrome with 46,XY disorders of sex development: A case report. Fu Q; Wang H; Qi Z; Zhang Y Am J Med Genet A; 2019 Feb; 179(2):285-289. PubMed ID: 30667571 [TBL] [Abstract][Full Text] [Related]
5. Simpson-Golabi-Behmel syndrome: a prenatal diagnosis in a foetus with GPC3 and GPC4 gene microduplications. Mujezinović F; Krgović D; Blatnik A; Zagradišnik B; Vipotnik TV; Golec T; Tul N; Vokač NK Clin Genet; 2016 Jul; 90(1):99-101. PubMed ID: 26847959 [No Abstract] [Full Text] [Related]
6. 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]
7. 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]
8. Simpson-Golabi-Behmel syndrome types I and II. Tenorio J; Arias P; Martínez-Glez V; Santos F; García-Miñaur S; Nevado J; Lapunzina P Orphanet J Rare Dis; 2014 Sep; 9():138. PubMed ID: 25238977 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. Simpson-Golabi-Behmel syndrome in one of the Dichorionic-diamniotic twin: a case report and literature review. Guo Y; Zhang H; Fan L; Chen J; Zhang X; Yang H; Sun Y BMC Pregnancy Childbirth; 2022 Jan; 22(1):42. PubMed ID: 35038998 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Simpson-Golabi-Behmel syndrome diagnosed by postmortem magnetic resonance imaging, restricted autopsy, and molecular genetics: a case report. Ochiai D; Ohashi H; Hisazumi-Watanabe H; Sato Y; Yakubo K; Fukuiya T Eur J Obstet Gynecol Reprod Biol; 2013 Dec; 171(2):388-9. PubMed ID: 24169032 [No Abstract] [Full Text] [Related]
13. 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]
14. Are all Xq26.2 duplications overlapping GPC3 on array-CGH a cause of Simpson-Golabi-Behmel syndrome? When do we need transcript analysis? Vuillaume ML; Moizard MP; Hammouche E; Delrue MA; Perrin L; Maftei C; Dupont C; Drunat S; Cottereau E; Baumann C; Toutain A Clin Genet; 2018 May; 93(5):1111-1113. PubMed ID: 29372559 [No Abstract] [Full Text] [Related]
15. 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]
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17. 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]
18. Duplication of exon 2 of the GPC3 gene in a case of Simpson-Golabi-Behmel syndrome. Cottereau E; Moizard MP; David A; Raynaud M; Marmin N; Toutain A Am J Med Genet A; 2014 Jan; 164A(1):282-4. PubMed ID: 24214682 [No Abstract] [Full Text] [Related]
19. Whole exome sequencing aids the diagnosis of Simpson-Golabi-Behmel syndrome in two male fetuses. Xiang J; Zhang Q; Song X; Liu Y; Li H; Li H; Wang T J Int Med Res; 2020 Jan; 48(1):300060519859752. PubMed ID: 31304847 [TBL] [Abstract][Full Text] [Related]
20. Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome. Kehrer C; Hoischen A; Menkhaus R; Schwab E; Müller A; Kim S; Kreiß M; Weitensteiner V; Hilger A; Berg C; Geipel A; Reutter H; Gembruch U Prenat Diagn; 2016 Oct; 36(10):961-965. PubMed ID: 27589329 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]