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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Mental Retardation, X-Linked

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Disease relevance of Mental Retardation, X-Linked


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Anatomical context of Mental Retardation, X-Linked


Gene context of Mental Retardation, X-Linked


Analytical, diagnostic and therapeutic context of Mental Retardation, X-Linked


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  6. X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. Hahn, K.A., Salomons, G.S., Tackels-Horne, D., Wood, T.C., Taylor, H.A., Schroer, R.J., Lubs, H.A., Jakobs, C., Olson, R.L., Holden, K.R., Stevenson, R.E., Schwartz, C.E. Am. J. Hum. Genet. (2002) [Pubmed]
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  8. Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation. Gécz, J., Barnett, S., Liu, J., Hollway, G., Donnelly, A., Eyre, H., Eshkevari, H.S., Baltazar, R., Grunn, A., Nagaraja, R., Gilliam, C., Peltonen, L., Sutherland, G.R., Baron, M., Mulley, J.C. Genomics (1999) [Pubmed]
  9. Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Kalscheuer, V.M., Freude, K., Musante, L., Jensen, L.R., Yntema, H.G., Gécz, J., Sefiani, A., Hoffmann, K., Moser, B., Haas, S., Gurok, U., Haesler, S., Aranda, B., Nshedjan, A., Tzschach, A., Hartmann, N., Roloff, T.C., Shoichet, S., Hagens, O., Tao, J., Van Bokhoven, H., Turner, G., Chelly, J., Moraine, C., Fryns, J.P., Nuber, U., Hoeltzenbein, M., Scharff, C., Scherthan, H., Lenzner, S., Hamel, B.C., Schweiger, S., Ropers, H.H. Nat. Genet. (2003) [Pubmed]
  10. FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. Meloni, I., Muscettola, M., Raynaud, M., Longo, I., Bruttini, M., Moizard, M.P., Gomot, M., Chelly, J., des Portes, V., Fryns, J.P., Ropers, H.H., Magi, B., Bellan, C., Volpi, N., Yntema, H.G., Lewis, S.E., Schaffer, J.E., Renieri, A. Nat. Genet. (2002) [Pubmed]
  11. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Strømme, P., Mangelsdorf, M.E., Shaw, M.A., Lower, K.M., Lewis, S.M., Bruyere, H., Lütcherath, V., Gedeon, A.K., Wallace, R.H., Scheffer, I.E., Turner, G., Partington, M., Frints, S.G., Fryns, J.P., Sutherland, G.R., Mulley, J.C., Gécz, J. Nat. Genet. (2002) [Pubmed]
  12. 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, H.G., Orth, U., Boavida, M.G., David, D., Chelly, J., Fryns, J.P., Moraine, C., Ropers, H.H., Hamel, B.C., van Bokhoven, H., Gal, A. Nat. Genet. (2000) [Pubmed]
  13. Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. Freude, K., Hoffmann, K., Jensen, L.R., Delatycki, M.B., des Portes, V., Moser, B., Hamel, B., van Bokhoven, H., Moraine, C., Fryns, J.P., Chelly, J., Gécz, J., Lenzner, S., Kalscheuer, V.M., Ropers, H.H. Am. J. Hum. Genet. (2004) [Pubmed]
  14. High prevalence of SLC6A8 deficiency in X-linked mental retardation. Rosenberg, E.H., Almeida, L.S., Kleefstra, T., deGrauw, R.S., Yntema, H.G., Bahi, N., Moraine, C., Ropers, H.H., Fryns, J.P., deGrauw, T.J., Jakobs, C., Salomons, G.S. Am. J. Hum. Genet. (2004) [Pubmed]
  15. A simple multiplex FRAXA, FRAXE, and FRAXF PCR assay convenient for wide screening programs. Strelnikov, V., Nemtsova, M., Chesnokova, G., Kuleshov, N., Zaletayev, D. Hum. Mutat. (1999) [Pubmed]
  16. 5-Fluoro-2'-deoxyuridine induction of the fragile site on Xq28 associated with X linked mental retardation. Tommerup, N., Poulsen, H., Brøndum-Nielsen, K. J. Med. Genet. (1981) [Pubmed]
  17. Channelopathies as a genetic cause of epilepsy. Mulley, J.C., Scheffer, I.E., Petrou, S., Berkovic, S.F. Curr. Opin. Neurol. (2003) [Pubmed]
  18. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Handyside, A.H., Kontogianni, E.H., Hardy, K., Winston, R.M. Nature (1990) [Pubmed]
  19. The X-linked mental retardation protein oligophrenin-1 is required for dendritic spine morphogenesis. Govek, E.E., Newey, S.E., Akerman, C.J., Cross, J.R., Van der Veken, L., Van Aelst, L. Nat. Neurosci. (2004) [Pubmed]
  20. The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesis. Bérubé, N.G., Mangelsdorf, M., Jagla, M., Vanderluit, J., Garrick, D., Gibbons, R.J., Higgs, D.R., Slack, R.S., Picketts, D.J. J. Clin. Invest. (2005) [Pubmed]
  21. A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor. Ramser, J., Abidi, F.E., Burckle, C.A., Lenski, C., Toriello, H., Wen, G., Lubs, H.A., Engert, S., Stevenson, R.E., Meindl, A., Schwartz, C.E., Nguyen, G. Hum. Mol. Genet. (2005) [Pubmed]
  22. SOX3 is an X-linked gene related to SRY. Stevanović, M., Lovell-Badge, R., Collignon, J., Goodfellow, P.N. Hum. Mol. Genet. (1993) [Pubmed]
  23. ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Bienvenu, T., Poirier, K., Friocourt, G., Bahi, N., Beaumont, D., Fauchereau, F., Ben Jeema, L., Zemni, R., Vinet, M.C., Francis, F., Couvert, P., Gomot, M., Moraine, C., van Bokhoven, H., Kalscheuer, V., Frints, S., Gecz, J., Ohzaki, K., Chaabouni, H., Fryns, J.P., Desportes, V., Beldjord, C., Chelly, J. Hum. Mol. Genet. (2002) [Pubmed]
  24. Assignment of human gene encoding thymidylate synthase to chromosome 18 using interspecific cell hybrids between thymidylate synthase-negative mouse mutant cells and human diploid fibroblasts. Hori, T., Ayusawa, D., Shimizu, K., Koyama, H., Seno, T. Somat. Cell Mol. Genet. (1985) [Pubmed]
  25. PAK3 mutation in nonsyndromic X-linked mental retardation. Allen, K.M., Gleeson, J.G., Bagrodia, S., Partington, M.W., MacMillan, J.C., Cerione, R.A., Mulley, J.C., Walsh, C.A. Nat. Genet. (1998) [Pubmed]
  26. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Weaving, L.S., Christodoulou, J., Williamson, S.L., Friend, K.L., McKenzie, O.L., Archer, H., Evans, J., Clarke, A., Pelka, G.J., Tam, P.P., Watson, C., Lahooti, H., Ellaway, C.J., Bennetts, B., Leonard, H., Gécz, J. Am. J. Hum. Genet. (2004) [Pubmed]
  27. MECP2 is highly mutated in X-linked mental retardation. Couvert, P., Bienvenu, T., Aquaviva, C., Poirier, K., Moraine, C., Gendrot, C., Verloes, A., Andrès, C., Le Fevre, A.C., Souville, I., Steffann, J., des Portes, V., Ropers, H.H., Yntema, H.G., Fryns, J.P., Briault, S., Chelly, J., Cherif, B. Hum. Mol. Genet. (2001) [Pubmed]
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  29. Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity. Ahmad, W., De Fusco, M., ul Haque, M.F., Aridon, P., Sarno, T., Sohail, M., ul Haque, S., Ahmad, M., Ballabio, A., Franco, B., Casari, G. Eur. J. Hum. Genet. (1999) [Pubmed]
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