Moizard MP - Search Results

1

Phenotype and genotype in females with POU3F4 mutations.

Marlin S, Moizard MP, David A, Chaissang N, Raynaud M, Jonard L, Feldmann D, Loundon N, Denoyelle F, Toutain A. Marlin S, et al. Among authors: moizard mp. Clin Genet. 2009 Dec;76(6):558-63. doi: 10.1111/j.1399-0004.2009.01215.x. Clin Genet. 2009. PMID: 19930154

2

Twenty-five novel mutations including duplications in the ATP7A gene.

Moizard MP, Ronce N, Blesson S, Bieth E, Burglen L, Mignot C, Mortemousque I, Marmin N, Dessay B, Danesino C, Feillet F, Castelnau P, Toutain A, Moraine C, Raynaud M. Moizard MP, et al. Clin Genet. 2011 Mar;79(3):243-53. doi: 10.1111/j.1399-0004.2010.01461.x. Clin Genet. 2011. PMID: 21208200

3

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: moizard mp. Clin Genet. 1994 Mar;45(3):145-53. doi: 10.1111/j.1399-0004.1994.tb04012.x. Clin Genet. 1994. PMID: 8026106

4

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: moizard mp. 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

5

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. Among authors: moizard mp. Eur J Hum Genet. 2000 Apr;8(4):253-8. doi: 10.1038/sj.ejhg.5200437. Eur J Hum Genet. 2000. PMID: 10854107

6

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. Eur J Hum Genet. 2000 Jul;8(7):552-6. doi: 10.1038/sj.ejhg.5200488. Eur J Hum Genet. 2000. PMID: 10909857

7

Are all Xq26.2 duplications overlapping GPC3 on array-CGH a cause of Simpson-Golabi-Behmel syndrome? When do we need transcript analysis?

Vuillaume ML, Moizard MP, Hammouche E, Delrue MA, Perrin L, Maftei C, Dupont C, Drunat S, Cottereau E, Baumann C, Toutain A. Vuillaume ML, et al. Among authors: moizard mp. Clin Genet. 2018 May;93(5):1111-1113. doi: 10.1111/cge.13151. Epub 2018 Jan 25. Clin Genet. 2018. PMID: 29372559 No abstract available.

8

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. Among authors: moizard mp. 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

9

Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy?

Moizard MP, Billard C, Toutain A, Berret F, Marmin N, Moraine C. Moizard MP, et al. Am J Med Genet. 1998 Oct 30;80(1):32-41. doi: 10.1002/(sici)1096-8628(19981102)80:1<32::aid-ajmg6>3.0.co;2-y. Am J Med Genet. 1998. PMID: 9800909

10

Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene.

Ronce N, Maystadt I, Hubert C, Vonwill S, Devriendt K, Moizard MP, Raynaud M. Ronce N, et al. Among authors: moizard mp. Clin Genet. 2012 Jul;82(1):93-6. doi: 10.1111/j.1399-0004.2011.01782.x. Epub 2011 Dec 30. Clin Genet. 2012. PMID: 22211847 No abstract available.

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