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