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3. Oligophrenin-1, a Rho GTPase-activating protein (RhoGAP) involved in X-linked mental retardation, is expressed in the enteric nervous system. Xiao J; Neylon CB; Hunne B; Furness JB Anat Rec A Discov Mol Cell Evol Biol; 2003 Aug; 273(2):671-6. PubMed ID: 12845702 [TBL] [Abstract][Full Text] [Related]
4. Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia. Tentler D; Gustavsson P; Leisti J; Schueler M; Chelly J; Timonen E; Annerén G; Willard HF; Dahl N Eur J Hum Genet; 1999 Jul; 7(5):541-8. PubMed ID: 10439959 [TBL] [Abstract][Full Text] [Related]
5. The X-linked mental retardation protein oligophrenin-1 is required for dendritic spine morphogenesis. Govek EE; Newey SE; Akerman CJ; Cross JR; Van der Veken L; Van Aelst L Nat Neurosci; 2004 Apr; 7(4):364-72. PubMed ID: 15034583 [TBL] [Abstract][Full Text] [Related]
7. Deletion of the OPHN1 gene detected by aCGH. Madrigal I; Rodríguez-Revenga L; Badenas C; Sánchez A; Milà M J Intellect Disabil Res; 2008 Mar; 52(Pt 3):190-4. PubMed ID: 18261018 [TBL] [Abstract][Full Text] [Related]
8. [Progress in the study of OPHN1 gene]. Zhang LJ; Zhang FC; Gao XC Sheng Li Ke Xue Jin Zhan; 2006 Jan; 37(1):69-71. PubMed ID: 16683552 [No Abstract] [Full Text] [Related]
9. Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. Kutsche K; Yntema H; Brandt A; Jantke I; Nothwang HG; Orth U; Boavida MG; David D; Chelly J; Fryns JP; Moraine C; Ropers HH; Hamel BC; van Bokhoven H; Gal A Nat Genet; 2000 Oct; 26(2):247-50. PubMed ID: 11017088 [TBL] [Abstract][Full Text] [Related]
11. Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family. Pirozzi F; Di Raimo FR; Zanni G; Bertini E; Billuart P; Tartaglione T; Tabolacci E; Brancaccio A; Neri G; Chiurazzi P Hum Mutat; 2011 Nov; 32(11):E2294-307. PubMed ID: 21796728 [TBL] [Abstract][Full Text] [Related]
12. Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia. Philip N; Chabrol B; Lossi AM; Cardoso C; Guerrini R; Dobyns WB; Raybaud C; Villard L J Med Genet; 2003 Jun; 40(6):441-6. PubMed ID: 12807966 [No Abstract] [Full Text] [Related]
13. Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation. Billuart P; Chelly J; Carrié A; Vinet M; Couvert P; McDonell N; Zemni R; Kahn A; Moraine C; Beldjord C; Bienvenu T Ann Genet; 2000; 43(1):5-9. PubMed ID: 10818214 [TBL] [Abstract][Full Text] [Related]
14. Significant overexpression of oligophrenin-1 in colorectal tumors detected by cDNA microarray analysis. Pinheiro NA; Caballero OL; Soares F; Reis LF; Simpson AJ Cancer Lett; 2001 Oct; 172(1):67-73. PubMed ID: 11595131 [TBL] [Abstract][Full Text] [Related]