243 related articles for article (PubMed ID: 25804025)
1. A male newborn with Simpson-Golabi-Behmel syndrome, presenting with metopic synostosis, anal atresia, and total anomalous pulmonary venous return.
Demir N; Peker E; Ece I; Kaba S; Doğan M; Tuncer O
Genet Couns; 2014; 25(4):439-43. PubMed ID: 25804025
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. Rare dental manifestation in Simpson-Golabi-Behmel syndrome.
Parashar P; Preston S; Brada B; Borris T; Potter B
Gen Dent; 2016; 64(1):e12-5. PubMed ID: 26742178
[TBL] [Abstract][Full Text] [Related]
6. Ovotesticular Disorder of Sex Development (Ovotestis) in Simpson-Golabi-Behmel Syndrome: Expansion of the Clinical Spectrum.
De Paepe ME; Young L; Jones JR; Tantravahi U
Pediatr Dev Pathol; 2019; 22(1):70-74. PubMed ID: 29652239
[TBL] [Abstract][Full Text] [Related]
7. Prenatal case of Simpson-Golabi-Behmel syndrome with a de novo 370Kb-sized microdeletion of Xq26.2 compassing partial GPC3 gene and review.
Liu J; Liu Q; Yang S; Ma N; Pang J; Peng Y; Xi H; Jia Z; Luo Y; Jiang M; Teng Y; Yu W; Li Z; Wang H
Mol Genet Genomic Med; 2021 Aug; 9(8):e1750. PubMed ID: 34293831
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. 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. PubMed ID: 21204223
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
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. Simpson-Golabi-Behmel syndrome associated with cleft palate.
Morita Y; Kimoto N; Ogawa H; Omata T; Morita N
J Craniofac Surg; 2011 Sep; 22(5):1917-8. PubMed ID: 21959466
[TBL] [Abstract][Full Text] [Related]
17. SIMPSON-GOLABI-BEHMEL syndrome type 1: How placental immunohistochemistry can rapidly Predict the diagnosis.
Fiandrino G; Arossa A; Ghirardello S; Kalantari S; Rossi C; Bonasoni MP; Cesari S; Rizzuti T; Giorgio E; Bassanese F; Scatigno AL; Meroni A; Melito C; Feltri M; Longo S; Figar TA; Andorno A; Gelli MC; Bertozzi M; Spinillo A; Riccipetitoni G; Valente EM; Paulli M; Sirchia F
Placenta; 2022 Aug; 126():119-124. PubMed ID: 35796063
[TBL] [Abstract][Full Text] [Related]
18. A patient with Simpson-Golabi-Behmel syndrome, biliary cirrhosis and successful liver transplantation.
Jedraszak G; Girard M; Mellos A; Djeddi DD; Chardot C; Vanrenterghem A; Moizard MP; Gondry J; Sevestre H; Mathieu-Dramard M; Lacaille F; Demeer B
Am J Med Genet A; 2014 Mar; 164A(3):774-7. PubMed ID: 24357529
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
