des Portes V - Search Results

1

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 MP, Gomot M, Chelly J, des Portes V, Fryns JP, Ropers HH, Magi B, Bellan C, Volpi N, Yntema HG, Lewis SE, Schaffer JE, Renieri A. Meloni I, et al. Among authors: des portes v. Nat Genet. 2002 Apr;30(4):436-40. doi: 10.1038/ng857. Epub 2002 Mar 11. Nat Genet. 2002. PMID: 11889465

2

Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardation.

Billuart P, Vinet MC, des Portes V, Llense S, Richard L, Moutard ML, Recan D, Brüls T, Bienvenu T, Kahn A, Beldjord C, Chelly J. Billuart P, et al. Among authors: des portes v. Hum Mol Genet. 1996 Jul;5(7):977-9. doi: 10.1093/hmg/5.7.977. Hum Mol Genet. 1996. PMID: 8817333

3

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. 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

4

A gene for dominant nonspecific X-linked mental retardation is located in Xq28.

des Portes V, Billuart P, Carrié A, Bachner L, Bienvenu T, Vinet MC, Beldjord C, Ponsot G, Kahn A, Boué J, Chelly J. des Portes V, et al. Am J Hum Genet. 1997 Apr;60(4):903-9. Am J Hum Genet. 1997. PMID: 9106537 Free PMC article.

5

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. 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.

6

Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation.

Bienvenu T, Der-Sarkissian H, Billuart P, Tissot M, Des Portes V, Brüls T, Chabrolle JP, Chauveau P, Cherry M, Kahn A, Cohen D, Beldjord C, Chelly J, Cherif D. Bienvenu T, et al. Among authors: des portes v. Eur J Hum Genet. 1997 Mar-Apr;5(2):105-9. Eur J Hum Genet. 1997. PMID: 9195162

7

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. 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

8

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: des portes v. Nature. 1998 Apr 30;392(6679):923-6. doi: 10.1038/31940. Nature. 1998. PMID: 9582072

9

A gene for non-specific X-linked mental retardation (MRX55) is located in Xp11.

Deqaqi SC, N'Guessan M, Forner J, Sbiti A, Beldjord C, Chelly J, Sefiani A, Des Portes V. Deqaqi SC, et al. Among authors: des portes v. Ann Genet. 1998;41(1):11-6. Ann Genet. 1998. PMID: 9599645

10

Inherited microdeletion in Xp21.3-22.1 involved in non-specific mental retardation.

des Portes V, Carrié A, Billuart P, Kieffer V, Bienvenu T, Vinet MC, Beldjord C, Kahn A, Ponsot G, Chelly J, Moutard ML. des Portes V, et al. Clin Genet. 1998 Feb;53(2):136-41. doi: 10.1111/j.1399-0004.1998.tb02661.x. Clin Genet. 1998. PMID: 9611075

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