Jean-Claude Kaplan
Jean-Claude Kaplan
Université Paris Descartes Hôpital Cochin
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The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion
M Koenig, AH Beggs, M Moyer, S Scherpf, K Heindrich, T Bettecken, ...
American journal of human genetics 45 (4), 498, 1989
Transcription of the dystrophin gene in human muscle and non-muscle tissues
J Chelly, JC Kaplan, P Maire, S Gautron, A Kahn
Nature 333 (6176), 858-860, 1988
Illegitimate transcription: transcription of any gene in any cell type.
J Chelly, JP Concordet, JC Kaplan, A Kahn
Proceedings of the National Academy of Sciences 86 (8), 2617-2621, 1989
Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
F Muscatelli, TM Strom, AP Walker, E Zanaria, D Récan, A Meindl, ...
Nature 372 (6507), 672-676, 1994
Phenotypic characterization of individuals with 30–40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals …
DC Rubinsztein, J Leggo, R Coles, E Almqvist, V Biancalana, ...
American journal of human genetics 59 (1), 16, 1996
International Committee for Standardization in Haematology: Recommended methods for red‐cell enzyme analysis
E Beutler, KG Blume, JC Kaplan, GW Löhr, B Ramot, WN Valentine
British journal of haematology 35 (2), 331-340, 1977
Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping
A Goyenvalle, A Vulin, F Fougerousse, F Leturcq, JC Kaplan, L Garcia, ...
Science 306 (5702), 1796-1799, 2004
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
SL Roberds, F Leturcq, V Allamand, F Piccolo, M Jeanpierre, ...
Cell 78 (4), 625-633, 1994
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy
LM Kunkel, co-authors
Nature 322 (6074), 73-77, 1986
Efficient adenovirus-mediated transfer of a human minidystrophin gene to skeletal muscle of mdx mice
T Ragot, N Vincent, P Chafey, E Vigne, H Gilgenkrantz, D Coutont, ...
Nature 361 (6413), 647-650, 1993
Modification of enzymatically amplified DNA for the detection of point mutations.
A Haliassos, JC Chomel, L Tesson, M Baudis, J Kruh, JC Kaplan, A Kitzis
Nucleic Acids Research 17 (9), 3606, 1989
Genotype–phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD–DMD database: a model of nationwide knowledgebase
S Tuffery‐Giraud, C Béroud, F Leturcq, RB Yaou, D Hamroun, ...
Human mutation 30 (6), 934-945, 2009
Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy
K Matsumura, FMS Tomé, H Collin, K Azibi, M Chaouch, JC Kaplan, ...
Nature 359 (6393), 320-322, 1992
Immunolocalization and developmental expression of dystrophin related protein in skeletal muscle
TS Khurana, SC Watkins, P Chafey, J Chelly, FMS Tomé, M Fardeau, ...
Neuromuscular Disorders 1 (3), 185-194, 1991
Long–term correction of mouse dystrophic degeneration by adenovirus–mediated transfer of a minidystrophin gene
N Vincent, T Ragot, H Gilgenkrantz, D Couton, P Chafey, A Grégoire, ...
Nature Genetics 5 (2), 130-134, 1993
Quantitative estimation of minor mRNAs by cDNA‐polymerase chain reaction: Application to dystrophin mRNA in cultured myogenic and brain cells
European journal of biochemistry 187 (3), 691-698, 1990
Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity
F Piccolo, SL Roberds, M Jeanpierre, F Leturcq, K Azibi, C Beldjord, ...
Nature genetics 10 (2), 243-245, 1995
Code bubbles: a working set-based interface for code understanding and maintenance
A Bragdon, R Zeleznik, SP Reiss, S Karumuri, W Cheung, J Kaplan, ...
Proceedings of the SIGCHI Conference on Human Factors in Computing Systems …, 2010
International Committee for Standardization in Haematology: recommended screening test for glucose‐6‐phosphate dehydrogenase (G‐6‐PD) deficiency
E Beutler, KG Blume, JC Kaplan, GW Löhr, B Ramot, WN Valentine
British journal of haematology 43 (3), 465-467, 1979
Detection of minority point mutations by modified PCR technique: a new approach for a sensitive diagnosis of tumor-progression markers
A Haliassos, JC Chomel, S Grandjouan, J Kruh, JC Kaplan, A Kitzis
Nucleic acids research 17 (20), 8093-8099, 1989
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