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MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.
Frints SG, Lenzner S, Bauters M, Jensen LR, Van Esch H, des Portes V, Moog U, Macville MV, van Roozendaal K, Schrander-Stumpel CT, Tzschach A, Marynen P, Fryns JP, Hamel B, van Bokhoven H, Chelly J, Beldjord C, Turner G, Gecz J, Moraine C, Raynaud M, Ropers HH, Froyen G, Kuss AW. Frints SG, et al. Among authors: beldjord c. Eur J Hum Genet. 2008 Sep;16(9):1029-37. doi: 10.1038/ejhg.2008.66. Epub 2008 Apr 9. Eur J Hum Genet. 2008. PMID: 18398436
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.
de Brouwer AP, Yntema HG, Kleefstra T, Lugtenberg D, Oudakker AR, de Vries BB, van Bokhoven H, Van Esch H, Frints SG, Froyen G, Fryns JP, Raynaud M, Moizard MP, Ronce N, Bensalem A, Moraine C, Poirier K, Castelnau L, Saillour Y, Bienvenu T, Beldjord C, des Portes V, Chelly J, Turner G, Fullston T, Gecz J, Kuss AW, Tzschach A, Jensen LR, Lenzner S, Kalscheuer VM, Ropers HH, Hamel BC. de Brouwer AP, et al. Among authors: beldjord c. Hum Mutat. 2007 Feb;28(2):207-8. doi: 10.1002/humu.9482. Hum Mutat. 2007. PMID: 17221867
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 MC, Francis F, Couvert P, Gomot M, Moraine C, van Bokhoven H, Kalscheuer V, Frints S, Gecz J, Ohzaki K, Chaabouni H, Fryns JP, Desportes V, Beldjord C, Chelly J. Bienvenu T, et al. Among authors: beldjord c. Hum Mol Genet. 2002 Apr 15;11(8):981-91. doi: 10.1093/hmg/11.8.981. Hum Mol Genet. 2002. PMID: 11971879
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.
Bienvenu T, des Portes V, McDonell N, Carrié A, Zemni R, Couvert P, Ropers HH, Moraine C, van Bokhoven H, Fryns JP, Allen K, Walsh CA, Boué J, Kahn A, Chelly J, Beldjord C. Bienvenu T, et al. Among authors: beldjord c. Am J Med Genet. 2000 Aug 14;93(4):294-8. doi: 10.1002/1096-8628(20000814)93:4<294::aid-ajmg8>3.0.co;2-f. Am J Med Genet. 2000. PMID: 10946356
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation.
Carrié A, Jun L, Bienvenu T, Vinet MC, McDonell N, Couvert P, Zemni R, Cardona A, Van Buggenhout G, Frints S, Hamel B, Moraine C, Ropers HH, Strom T, Howell GR, Whittaker A, Ross MT, Kahn A, Fryns JP, Beldjord C, Marynen P, Chelly J. Carrié A, et al. Among authors: beldjord c. Nat Genet. 1999 Sep;23(1):25-31. doi: 10.1038/12623. Nat Genet. 1999. PMID: 10471494
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.
Zemni R, Bienvenu T, Vinet MC, Sefiani A, Carrié A, Billuart P, McDonell N, Couvert P, Francis F, Chafey P, Fauchereau F, Friocourt G, des Portes V, Cardona A, Frints S, Meindl A, Brandau O, Ronce N, Moraine C, van Bokhoven H, Ropers HH, Sudbrak R, Kahn A, Fryns JP, Beldjord C, Chelly J. Zemni R, et al. Among authors: beldjord c. Nat Genet. 2000 Feb;24(2):167-70. doi: 10.1038/72829. Nat Genet. 2000. PMID: 10655063
147 results