Raynaud M - Search Results

1

Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.

Lesca G, Moizard MP, Bussy G, Boggio D, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Des Portes V, Labalme A, Sanlaville D, Edery P, Raynaud M, Lespinasse J. Lesca G, et al. Among authors: raynaud m. Am J Med Genet A. 2013 Dec;161A(12):3063-71. doi: 10.1002/ajmg.a.36162. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 24039113

2

X-linked mental retardation exhibiting linkage to DXS255 and PGKP1: a new MRX family (MRX14) with localization in the pericentromeric region.

Gendrot C, Ronce N, Toutain A, Moizard MP, Müh JP, Raynaud M, Dourlens J, Briault S, Moraine C. Gendrot C, et al. Among authors: raynaud m. Clin Genet. 1994 Mar;45(3):145-53. doi: 10.1111/j.1399-0004.1994.tb04012.x. Clin Genet. 1994. PMID: 8026106

3

X-linked mental retardation with neonatal hypotonia in a French family (MRX15): gene assignment to Xp11.22-Xp21.1.

Raynaud M, Gendrot C, Dessay B, Moncla A, Ayrault AD, Moizard MP, Toutain A, Briault S, Villard L, Ronce N, Moraine C. Raynaud M, et al. Am J Med Genet. 1996 Jul 12;64(1):97-106. doi: 10.1002/(SICI)1096-8628(19960712)64:1<97::AID-AJMG17>3.0.CO;2-N. Am J Med Genet. 1996. PMID: 8826458

4

X-linked mental retardation with isolated growth hormone deficiency is mapped to Xq22-Xq27.2 in one family.

Raynaud M, Ronce N, Ayrault AD, Francannet C, Malpuech G, Moraine C. Raynaud M, et al. Am J Med Genet. 1998 Mar 19;76(3):255-61. Am J Med Genet. 1998. PMID: 9508246

5

Evidence for a new X-linked mental retardation gene in Xp21-Xp22: clinical and molecular data in one family.

Ronce N, Raynaud M, Toutain A, Moizard MP, Colleaux L, Gendrot C, Briault S, Moraine C. Ronce N, et al. Among authors: raynaud m. Am J Med Genet. 1999 Mar 12;83(2):132-7. doi: 10.1002/(sici)1096-8628(19990312)83:2<132::aid-ajmg9>3.0.co;2-y. Am J Med Genet. 1999. PMID: 10190484

6

X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: the European XLMR consortium.

des Portes V, Beldjord C, Chelly J, Hamel B, Kremer H, Smits A, van Bokhoven H, Ropers HH, Claes S, Fryns JP, Ronce N, Gendrot C, Toutain A, Raynaud M, Moraine C. des Portes V, et al. Among authors: raynaud m. Am J Med Genet. 1999 Jul 30;85(3):263-5. doi: 10.1002/(sici)1096-8628(19990730)85:3<263::aid-ajmg15>3.0.co;2-0. Am J Med Genet. 1999. PMID: 10398240 No abstract available.

7

Systematic analysis of X-inactivation in 19XLMR families: extremely skewed profiles in carriers in three families.

Raynaud M, Moizard MP, Dessay B, Briault S, Toutain A, Gendrot C, Ronce N, Moraine C. Raynaud M, et al. Eur J Hum Genet. 2000 Apr;8(4):253-8. doi: 10.1038/sj.ejhg.5200437. Eur J Hum Genet. 2000. PMID: 10854107

8

Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening.

Moizard MP, Toutain A, Fournier D, Berret F, Raynaud M, Billard C, Andres C, Moraine C. Moizard MP, et al. Among authors: raynaud m. Eur J Hum Genet. 2000 Jul;8(7):552-6. doi: 10.1038/sj.ejhg.5200488. Eur J Hum Genet. 2000. PMID: 10909857

9

In-frame deletion in MECP2 causes mild nonspecific mental retardation.

Yntema HG, Oudakker AR, Kleefstra T, Hamel BC, van Bokhoven H, Chelly J, Kalscheuer VM, Fryns JP, Raynaud M, Moizard MP, Moraine C. Yntema HG, et al. Among authors: raynaud m. Am J Med Genet. 2002 Jan 1;107(1):81-3. doi: 10.1002/ajmg.10085. Am J Med Genet. 2002. PMID: 11807877 No abstract available.

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 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: raynaud m. Nat Genet. 2002 Apr;30(4):436-40. doi: 10.1038/ng857. Epub 2002 Mar 11. Nat Genet. 2002. PMID: 11889465

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