Citations for
1MRX60, OPHN1
A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations.
Santos-Rebouças CB, Belet S, Guedes de Almeida L, Ribeiro MG, Medina-Acosta E, Bahia PR, Alves da Silva AF, Lima dos Santos F, Borges de Lacerda GC, Pimentel MM, Froyen G.
Eur J Hum Genet 22(5):644-51. doi: 10.1038/ejhg.2013.216. Epub 2013 Oct 9. 2014
2MRX60, OPHN1
Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.
Al-Owain M, Kaya N, Al-Zaidan H, Al-Hashmi N, Al-Bakheet A, Al-Muhaizea M, Chedrawi A, Basran RK, Milunsky A.
Clin Genet 79(4):363-70. doi: 10.1111/j.1399-0004.2010.01462.x. 2011
3MRX60, OPHN1
Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.
Al-Owain M, Kaya N, Al-Zaidan H, Al-Hashmi N, Al-Bakheet A, Al-Muhaizea M, Chedrawi A, Basran R, Milunsky A.
Clin Genet lin Genet. 2010 May 7. [Epub ahead of print]PMID: 20528889 2010
4MRX60, OPHN1
The Rho-linked mental retardation protein oligophrenin-1 controls synapse maturation and plasticity by stabilizing AMPA receptors.
Nadif Kasri N, Nakano-Kobayashi A, Malinow R, Li B, Van Aelst L.
Genes Dev 23(11):1289-302.PMID: 19487570 2009
5DUPXQP, MRX60, OPN1
Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene.
Bedeschi MF, Novelli A, Bernardini L, Parazzini C, Bianchi V, Torres B, Natacci F, Giuffrida MG, Ficarazzi P, Dallapiccola B, Lalatta F.
Am J Med Genet A 146A(13):1718-24. 2008
6OPHN1, MRX60
Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families.
Chabrol B, Girard N, N'Guyen K, Gerard A, Carlier M, Villard L, Philip N.
Am J Med Genet A 138(4):314-7. 2005
7OPHN1, MRX60
Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 gene.
des Portes V, Boddaert N, Sacco S, Briault S, Maincent K, Bahi N, Gomot M, Ronce N, Bursztyn J, Adamsbaum C, Zilbovicius M, Chelly J, Moraine C.
Am J Med Genet 124A(4):364-71. 2004
8OPHN1, MRX60
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 7(4):364-72. Epub 2004 Mar 14. 2004
9MRX60, OPHN1
Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia.
Bergmann C, Zerres K, Senderek J, Rudnik-Schoneborn S, Eggermann T, Hausler M, Mull M, Ramaekers VT.
Brain 126(Pt 7):1537-44. Epub 2003 May 21. Review. 2003
10OPHN1, MRX60
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation.
Billuart P, et al.
Nature 392 : 923-926. 1998
11MRX60
Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation.
Bienvenu T, et al.
Eur J Hum Genet 5 : 105-109. 1997