Kaplan JC - Search Results

1

Nebulin seen in DMD males including one patient with a large DNA deletion encompassing the DMD gene.

Pernelle JJ, Chafey P, Chelly J, Wahrmann JP, Kaplan JC, Tomé F, Fardeau M. Pernelle JJ, et al. Among authors: kaplan jc. Hum Genet. 1988 Mar;78(3):285. doi: 10.1007/BF00291678. Hum Genet. 1988. PMID: 3346018

2

Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia.

Chelly J, Marlhens F, Dutrillaux B, Van Ommen GJ, Lambert M, Haioun B, Boissinot G, Fardeau M, Kaplan JC. Chelly J, et al. Among authors: kaplan jc. Hum Genet. 1988 Mar;78(3):222-7. doi: 10.1007/BF00291665. Hum Genet. 1988. PMID: 2894344

3

[Molecular pathology of Duchenne and Becker muscular dystrophy].

Gilgenkrantz H, Chelly J, Récan D, Chafey P, Kaplan JC. Gilgenkrantz H, et al. Among authors: kaplan jc. C R Seances Soc Biol Fil. 1992;186(4):349-53. C R Seances Soc Biol Fil. 1992. PMID: 1301222 French.

4

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: kaplan jc. 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

5

Expression of the transcripts initiated in the 62nd intron of the dystrophin gene.

Lambert M, Chafey P, Hugnot JP, Koulakoff A, Berwald-Netter Y, Billard C, Morris GE, Kahn A, Kaplan JC, Gilgenkrantz H. Lambert M, et al. Among authors: kaplan jc. Neuromuscul Disord. 1993 Sep-Nov;3(5-6):519-24. doi: 10.1016/0960-8966(93)90108-v. Neuromuscul Disord. 1993. PMID: 8186704

6

Long-term correction of mouse dystrophic degeneration by adenovirus-mediated transfer of a minidystrophin gene.

Vincent N, Ragot T, Gilgenkrantz H, Couton D, Chafey P, Grégoire A, Briand P, Kaplan JC, Kahn A, Perricaudet M. Vincent N, et al. Among authors: kaplan jc. Nat Genet. 1993 Oct;5(2):130-4. doi: 10.1038/ng1093-130. Nat Genet. 1993. PMID: 8252038

7

A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India.

Piccolo F, Jeanpierre M, Leturcq F, Dodé C, Azibi K, Toutain A, Merlini L, Jarre L, Navarro C, Krishnamoorthy R, Tomé FM, Urtizberea JA, Beckmann JS, Campbell KP, Kaplan JC. Piccolo F, et al. Among authors: kaplan jc. Hum Mol Genet. 1996 Dec;5(12):2019-22. doi: 10.1093/hmg/5.12.2019. Hum Mol Genet. 1996. PMID: 8968757

8

Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).

Carrié A, Piccolo F, Leturcq F, de Toma C, Azibi K, Beldjord C, Vallat JM, Merlini L, Voit T, Sewry C, Urtizberea JA, Romero N, Tomé FM, Fardeau M, Sunada Y, Campbell KP, Kaplan JC, Jeanpierre M. Carrié A, et al. Among authors: kaplan jc. J Med Genet. 1997 Jun;34(6):470-5. doi: 10.1136/jmg.34.6.470. J Med Genet. 1997. PMID: 9192266 Free PMC article.

9

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

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

10

Positive and negative regulatory DNA elements including a CCArGG box are involved in the cell type-specific expression of the human muscle dystrophin gene.

Gilgenkrantz H, Hugnot JP, Lambert M, Chafey P, Kaplan JC, Kahn A. Gilgenkrantz H, et al. Among authors: kaplan jc. J Biol Chem. 1992 May 25;267(15):10823-30. J Biol Chem. 1992. PMID: 1316911 Free article.

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