Deburgrave N - Search Results

1

Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method.

Saillour Y, Cossée M, Leturcq F, Vasson A, Beugnet C, Poirier K, Commere V, Sublemontier S, Viel M, Letourneur F, Barbot JC, Deburgrave N, Chelly J, Bienvenu T. Saillour Y, et al. Among authors: deburgrave n. Hum Mutat. 2008 Sep;29(9):1083-90. doi: 10.1002/humu.20829. Hum Mutat. 2008. PMID: 18683213

2

A point mutation in the glycerol kinase gene associated with a deletion in the dystrophin gene in a familial X-linked muscular dystrophy: non-contiguous gene syndrome involving Becker muscular dystrophy and glycerol kinase loci.

Romero NB, Récan D, Rigal O, Leturcq F, Llense S, Barbot JC, Deburgrave N, Cheval MA, Deniau F, Kaplan JC. Romero NB, et al. Among authors: deburgrave n. Neuromuscul Disord. 1997 Dec;7(8):499-504. doi: 10.1016/s0960-8966(97)00114-4. Neuromuscul Disord. 1997. PMID: 9447607

3

Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression.

Manilal S, Recan D, Sewry CA, Hoeltzenbein M, Llense S, Leturcq F, Deburgrave N, Barbot J, Man N, Muntoni F, Wehnert M, Kaplan J, Morris GE. Manilal S, et al. Among authors: deburgrave n. Hum Mol Genet. 1998 May;7(5):855-64. doi: 10.1093/hmg/7.5.855. Hum Mol Genet. 1998. PMID: 9536090

4

Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene.

Béroud C, Carrié A, Beldjord C, Deburgrave N, Llense S, Carelle N, Peccate C, Cuisset JM, Pandit F, Carré-Pigeon F, Mayer M, Bellance R, Récan D, Chelly J, Kaplan JC, Leturcq F. Béroud C, et al. Among authors: deburgrave n. Neuromuscul Disord. 2004 Jan;14(1):10-8. doi: 10.1016/s0960-8966(03)00169-x. Neuromuscul Disord. 2004. PMID: 14659407

5

Prenatal diagnosis of recessive congenital methaemoglobinaemia type II: novel mutation in the NADH-cytochrome b5 reductase gene leading to stop codon read-through.

Leroux A, Leturcq F, Deburgrave N, Szajnert MF. Leroux A, et al. Among authors: deburgrave n. Eur J Haematol. 2005 May;74(5):389-95. doi: 10.1111/j.1600-0609.2004.00388.x. Eur J Haematol. 2005. PMID: 15813912

6

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.

Deburgrave N, Daoud F, Llense S, Barbot JC, Récan D, Peccate C, Burghes AH, Béroud C, Garcia L, Kaplan JC, Chelly J, Leturcq F. Deburgrave N, et al. Hum Mutat. 2007 Feb;28(2):183-95. doi: 10.1002/humu.20422. Hum Mutat. 2007. PMID: 17041906

7

Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?

Ben Yaou R, Toutain A, Arimura T, Demay L, Massart C, Peccate C, Muchir A, Llense S, Deburgrave N, Leturcq F, Litim KE, Rahmoun-Chiali N, Richard P, Babuty D, Récan-Budiartha D, Bonne G. Ben Yaou R, et al. Among authors: deburgrave n. Neurology. 2007 May 29;68(22):1883-94. doi: 10.1212/01.wnl.0000263138.57257.6a. Neurology. 2007. PMID: 17536044

8

Revised spectrum of mutations in sarcoglycanopathies.

Trabelsi M, Kavian N, Daoud F, Commere V, Deburgrave N, Beugnet C, Llense S, Barbot JC, Vasson A, Kaplan JC, Leturcq F, Chelly J. Trabelsi M, et al. Among authors: deburgrave n. Eur J Hum Genet. 2008 Jul;16(7):793-803. doi: 10.1038/ejhg.2008.9. Epub 2008 Feb 20. Eur J Hum Genet. 2008. PMID: 18285821

9

Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.

Daoud F, Angeard N, Demerre B, Martie I, Benyaou R, Leturcq F, Cossée M, Deburgrave N, Saillour Y, Tuffery S, Urtizberea A, Toutain A, Echenne B, Frischman M, Mayer M, Desguerre I, Estournet B, Réveillère C, Penisson-Besnier, Cuisset JM, Kaplan JC, Héron D, Rivier F, Chelly J. Daoud F, et al. Among authors: deburgrave n. Hum Mol Genet. 2009 Oct 15;18(20):3779-94. doi: 10.1093/hmg/ddp320. Epub 2009 Jul 14. Hum Mol Genet. 2009. PMID: 19602481

10

Miyoshi-like distal myopathy with mutations in anoctamin 5 gene.

Bouquet F, Cossée M, Béhin A, Deburgrave N, Romero N, Leturcq F, Eymard B. Bouquet F, et al. Among authors: deburgrave n. Rev Neurol (Paris). 2012 Feb;168(2):135-41. doi: 10.1016/j.neurol.2011.10.005. Epub 2012 Feb 13. Rev Neurol (Paris). 2012. PMID: 22336395

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