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X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pter.
des Portes V, Bachner L, Brüls T, Beldjord C, Billuart P, Soufir N, Bienvenu T, Vinet MC, Malaspina E, Marchiani V, Bertini E, Kahn A, Franzoni E, Chelly J. des Portes V, et al. Among authors: kahn a. Am J Med Genet. 1996 Jul 12;64(1):69-72. doi: 10.1002/(SICI)1096-8628(19960712)64:1<69::AID-AJMG10>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8826451
Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22.
des Portes V, Pinard JM, Smadja D, Motte J, Boespflüg-Tanguy O, Moutard ML, Desguerre I, Billuart P, Carrie A, Bienvenu T, Vinet MC, Bachner L, Beldjord C, Dulac O, Kahn A, Ponsot G, Chelly J. des Portes V, et al. Among authors: kahn a. J Med Genet. 1997 Mar;34(3):177-83. doi: 10.1136/jmg.34.3.177. J Med Genet. 1997. PMID: 9132485 Free PMC article.
Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24.
des Portes V, Soufir N, Carrié A, Billuart P, Bienvenu T, Vinet MC, Beldjord C, Ponsot G, Kahn A, Boué J, Chelly J. des Portes V, et al. Among authors: kahn a. Am J Med Genet. 1997 Oct 31;72(3):324-8. doi: 10.1002/(sici)1096-8628(19971031)72:3<324::aid-ajmg14>3.0.co;2-v. Am J Med Genet. 1997. PMID: 9332663
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation.
Billuart P, Bienvenu T, Ronce N, des Portes V, Vinet MC, Zemni R, Roest Crollius H, Carrié A, Fauchereau F, Cherry M, Briault S, Hamel B, Fryns JP, Beldjord C, Kahn A, Moraine C, Chelly J. Billuart P, et al. Among authors: kahn a. Nature. 1998 Apr 30;392(6679):923-6. doi: 10.1038/31940. Nature. 1998. PMID: 9582072
1,822 results