Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

659 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes.
Vasson A, Leroux C, Orhant L, Boimard M, Toussaint A, Leroy C, Commere V, Ghiotti T, Deburgrave N, Saillour Y, Atlan I, Fouveaut C, Beldjord C, Valleix S, Leturcq F, Dodé C, Bienvenu T, Chelly J, Cossée M. Vasson A, et al. Among authors: chelly j. Eur J Hum Genet. 2013 Sep;21(9):977-87. doi: 10.1038/ejhg.2012.279. Epub 2013 Jan 23. Eur J Hum Genet. 2013. PMID: 23340513 Free PMC article.
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: chelly j. 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
Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.
Nectoux J, de Cid R, Baulande S, Leturcq F, Urtizberea JA, Penisson-Besnier I, Nadaj-Pakleza A, Roudaut C, Criqui A, Orhant L, Peyroulan D, Ben Yaou R, Nelson I, Cobo AM, Arné-Bes MC, Uro-Coste E, Nitschke P, Claustres M, Bonne G, Lévy N, Chelly J, Richard I, Cossée M. Nectoux J, et al. Among authors: chelly j. Eur J Hum Genet. 2015 Jul;23(7):929-34. doi: 10.1038/ejhg.2014.223. Epub 2014 Oct 29. Eur J Hum Genet. 2015. PMID: 25351777 Free PMC article.
When a mid-intronic variation of DMD gene creates an ESE site.
Trabelsi M, Beugnet C, Deburgrave N, Commere V, Orhant L, Leturcq F, Chelly J. Trabelsi M, et al. Among authors: chelly j. Neuromuscul Disord. 2014 Dec;24(12):1111-7. doi: 10.1016/j.nmd.2014.07.003. Epub 2014 Aug 1. Neuromuscul Disord. 2014. PMID: 25193336
Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.
Zillhardt JL, Poirier K, Broix L, Lebrun N, Elmorjani A, Martinovic J, Saillour Y, Muraca G, Nectoux J, Bessieres B, Fallet-Bianco C, Lyonnet S, Dulac O, Odent S, Rejeb I, Ben Jemaa L, Rivier F, Pinson L, Geneviève D, Musizzano Y, Bigi N, Leboucq N, Giuliano F, Philip N, Vilain C, Van Bogaert P, Maurey H, Beldjord C, Artiguenave F, Boland A, Olaso R, Masson C, Nitschké P, Deleuze JF, Bahi-Buisson N, Chelly J. Zillhardt JL, et al. Among authors: chelly j. Eur J Hum Genet. 2016 Apr;24(4):611-4. doi: 10.1038/ejhg.2015.192. Epub 2015 Sep 23. Eur J Hum Genet. 2016. PMID: 26395554 Free PMC article.
Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms.
Marey I, Ben Yaou R, Deburgrave N, Vasson A, Nectoux J, Leturcq F, Eymard B, Laforet P, Behin A, Stojkovic T, Mayer M, Tiffreau V, Desguerre I, Boyer FC, Nadaj-Pakleza A, Ferrer X, Wahbi K, Becane HM, Claustres M, Chelly J, Cossee M. Marey I, et al. Among authors: chelly j. J Neuromuscul Dis. 2016 May 27;3(2):227-245. doi: 10.3233/JND-150134. J Neuromuscul Dis. 2016. PMID: 27854212
659 results