Chelly J - Search Results

1

Analysis of alternative splicing patterns in the cystic fibrosis transmembrane conductance regulator gene using mRNA derived from lymphoblastoid cells of cystic fibrosis patients.

Bienvenu T, Beldjord C, Chelly J, Fonknechten N, Hubert D, Dusser D, Kaplan JC. Bienvenu T, et al. Among authors: chelly j. Eur J Hum Genet. 1996;4(3):127-34. doi: 10.1159/000472186. Eur J Hum Genet. 1996. PMID: 8840112

2

Illegitimate transcription: its use in the study of inherited disease.

Kaplan JC, Kahn A, Chelly J. Kaplan JC, et al. Among authors: chelly j. Hum Mutat. 1992;1(5):357-60. doi: 10.1002/humu.1380010502. Hum Mutat. 1992. PMID: 1301944 Review.

3

CFTR illegitimate transcription in lymphoid cells: quantification and applications to the investigation of pathological transcripts.

Fonknechten N, Chelly J, Lepercq J, Kahn A, Kaplan JC, Kitzis A, Chomel JC. Fonknechten N, et al. Among authors: chelly j. Hum Genet. 1992 Mar;88(5):508-12. doi: 10.1007/BF00219336. Hum Genet. 1992. PMID: 1372586

4

No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients.

Vourc'h P, Bienvenu T, Beldjord C, Chelly J, Barthélémy C, Müh JP, Andres C. Vourc'h P, et al. Among authors: chelly j. Eur J Hum Genet. 2001 Jul;9(7):556-8. doi: 10.1038/sj.ejhg.5200660. Eur J Hum Genet. 2001. PMID: 11464249

5

Calpain 10 and development of diabetes mellitus in cystic fibrosis.

Derbel S, Doumaguet C, Hubert D, Mosnier-Pudar H, Grabar S, Chelly J, Bienvenu T. Derbel S, et al. Among authors: chelly j. J Cyst Fibros. 2006 Jan;5(1):47-51. doi: 10.1016/j.jcf.2005.09.011. Epub 2005 Dec 27. J Cyst Fibros. 2006. PMID: 16377260 Free article.

6

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

7

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.

8

[Illegitimate transcription: discovery and application to gene molecular pathology].

Kaplan JC, Chelly J, Gilgenkrantz H, Fonknechten N, Kahn A. Kaplan JC, et al. Among authors: chelly j. C R Seances Soc Biol Fil. 1992;186(4):371-6. C R Seances Soc Biol Fil. 1992. PMID: 1301225 Review. French.

9

Illegitimate (or ectopic) transcription proceeds through the usual promoters.

Chelly J, Hugnot JP, Concordet JP, Kaplan JC, Kahn A. Chelly J, et al. Biochem Biophys Res Commun. 1991 Jul 31;178(2):553-7. doi: 10.1016/0006-291x(91)90143-u. Biochem Biophys Res Commun. 1991. PMID: 1650193

10

Illegitimate transcription. Application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients.

Chelly J, Gilgenkrantz H, Hugnot JP, Hamard G, Lambert M, Récan D, Akli S, Cometto M, Kahn A, Kaplan JC. Chelly J, et al. J Clin Invest. 1991 Oct;88(4):1161-6. doi: 10.1172/JCI115417. J Clin Invest. 1991. PMID: 1918370 Free PMC article.

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