Bernard R - Search Results

1

Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay.

Krahn M, Pécheux C, Chapon F, Béroud C, Drouin-Garraud V, Laforet P, Romero NB, Penisson-Besnier I, Bernard R, Urtizberea JA, Leturcq F, Lévy N. Krahn M, et al. Among authors: bernard r. Clin Genet. 2007 Dec;72(6):582-92. doi: 10.1111/j.1399-0004.2007.00906.x. Epub 2007 Nov 1. Clin Genet. 2007. PMID: 17979987

2

Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene.

Figarella-Branger D, Pouget J, Bernard R, Krahn M, Fernandez C, Lévy N, Pellissier JF. Figarella-Branger D, et al. Among authors: bernard r. Neurology. 2003 Aug 26;61(4):562-4. doi: 10.1212/01.wnl.0000076486.57572.5c. Neurology. 2003. PMID: 12939441 Review.

3

Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations.

De Sandre-Giovannoli A, Chaouch M, Boccaccio I, Bernard R, Delague V, Grid D, Vallat JM, Lévy N, Mégarbané A. De Sandre-Giovannoli A, et al. Among authors: bernard r. J Med Genet. 2003 Jul;40(7):e87. doi: 10.1136/jmg.40.7.e87. J Med Genet. 2003. PMID: 12843336 Free PMC article. No abstract available.

4

[Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis].

Béhin A, Dubourg O, Laforêt P, Pêcheux C, Bernard R, Lévy N, Eymard B. Béhin A, et al. Among authors: bernard r. Rev Neurol (Paris). 2008 May;164(5):434-43. doi: 10.1016/j.neurol.2008.02.040. Epub 2008 Apr 15. Rev Neurol (Paris). 2008. PMID: 18555875 French.

5

Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A.

Bernard R, Labelle V, Negre P, Tardieu S, Azulay JP, Malzac P, Mattéi JF, Leguern E, Philip N, Lévy N. Bernard R, et al. Eur J Hum Genet. 2000 Mar;8(3):229-35. doi: 10.1038/sj.ejhg.5200433. Eur J Hum Genet. 2000. PMID: 10780790

6

Tetra-amelia and lung aplasia syndrome: report of a new family and exclusion of candidate genes.

Krahn M, Julia S, Sigaudy S, Liprandi A, Bernard R, Gonnet K, Heuertz S, Bonaventure J, Chau C, Fredouille C, Levy N, Philip N. Krahn M, et al. Among authors: bernard r. Clin Genet. 2005 Dec;68(6):558-60. doi: 10.1111/j.1399-0004.2005.00531.x. Clin Genet. 2005. PMID: 16283889 No abstract available.

7

Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history.

Nguyen K, Putoux A, Busa T, Cordier MP, Sigaudy S, Till M, Chabrol B, Michel-Calemard L, Bernard R, Julia S, Malzac P, Labalme A, Missirian C, Edery P, Popovici C, Philip N, Sanlaville D. Nguyen K, et al. Among authors: bernard r. Clin Genet. 2015 May;87(5):488-91. doi: 10.1111/cge.12421. Epub 2014 Jul 21. Clin Genet. 2015. PMID: 24835530

8

Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes.

Aubourg P, Krahn M, Bernard R, Nguyen K, Forzano O, Boccaccio I, Delague V, De Sandre-Giovannoli A, Pouget J, Depétris D, Mattei MG, Philip N, Lévy N. Aubourg P, et al. Among authors: bernard r. J Med Genet. 2005 Mar;42(3):253-9. doi: 10.1136/jmg.2004.021899. J Med Genet. 2005. PMID: 15744040 Free PMC article. No abstract available.

9

Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy.

Linssen WH, de Voogt WG, Krahn M, Bernard R, Levy N, Wokke JH, Ginjaar HB, de Visser M. Linssen WH, et al. Among authors: bernard r. Eur J Neurol. 2013 Jun;20(6):968-74. doi: 10.1111/ene.12129. Epub 2013 Mar 26. Eur J Neurol. 2013. PMID: 23530687

10

X-linked reticulate pigmentary layer. Report of a new patient and demonstration of a skewed X-inactivation.

Mégarbané H, Boehm N, Chouery E, Bernard R, Salem N, Halaby E, Levy N, Mégarbané A. Mégarbané H, et al. Among authors: bernard r. Genet Couns. 2005;16(1):85-9. Genet Couns. 2005. PMID: 15844784

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