X-linked mental retardation

Gibbons, R.J., Picketts, D.J., Villard, L., and Higgs, D.R. (1995) Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). Cell 80, 837-845. 

Billuart, P., Bienvenu, T., Ronce, N., des Fortes, V., Vinet, M.C., Zemni, R., Roest, C.Fl., Carrie, A., Fauchereau, F., Cherry, M., Briault, S., Hamel, B., Fryns, J.R, Beld-jord, C., Kahn, A., Moraine, C., and Chelly J., Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature 392,923-926, 1998. 

Turner, G., Reinhardt, R., Kalscheuer, V.M., Ropers, H.H. andLenzner, S. (2005) Mutations in the JARIDIC gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. American Journal of Human Genetics, 76, 227-236. 

Mancini GM, Catsman-Berrevoets CE, de Coo IF, Aarsen FK, Kamphoven JH, Huijmans JG, Duran M, van der Knaap MS, Jakobs C, Salomons GS (2004) Two novel mutations in SFC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families. Am J Med Genet A 132 288-295... 

AUen KM, Gleeson JG, Bagrodia S, Partington MW, MacMillan JC, Cerione RA, MuUey JC, Walsh CA (1998) PAK3 mutation in nonsyndromic X-linked mental retardation. Nat Genet 20 25-30... 

Billuart P, Bienvenu T, Ronce N, des Portes V, Vinet MC, Zemni R, Roest CroUius H, Carrie A, Eauchereau E, Cherry M, Briault S, Hamel B, Fryns JP, Beldjord C, Kahn A, Moraine C, CheUy J (1998) Ohgophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature 392 923-926... 

Govek EE, Newey SE, Akerman CJ, Cross JR, Van der Veken L, Van Aelst L (2004) The X-linked mental retardation protein oligophrenin-1 is required for dendritic spine motphogenesis. Nat Neurosci 7 364-372... 

X-linked mental retardation with hypopituitarism (XH) (MRX) SOX3 Transcription factor (15 26)... 

X-linked lissencephaly with ambiguous genitalia (XLAG) X-linked mental retardation 36 and 54 (MRX) ... 

Jumonji C (JmjC) PHF PHF2, PHF8 nd Transcriptional repression X-linked mental retardation... 

Bardoni B, Mandel J-L. Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes. Curr Opin Genet Develop 2002 12 284-93. 

Laumonnier, F, Bonnet-Brilhault, F, Gomot, M, Blanc, R, David, A, Moizard, MP, Raynaud, M, Ronce, N, Lemonnier, E, Calvas, P, et al. (2004) X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet 74 552-557. 

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