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Jean-Claude Kaplan

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Chemicals & Drugs

Disorders

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Procedures

Physiology

Anatomy

Muscles

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Publications

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Tuffery-Giraud Sylvie; Béroud Christophe; Leturcq France; Yaou Rabah Ben; Hamroun Dalil; Michel-Calemard Laurence; Moizard Marie-Pierre; Bernard Rafaëlle; Cossée Mireille; Boisseau Pierre; Blayau Martine; Creveaux Isabelle; Guiochon-Mantel Anne; de Martinville Bérengère; Philippe Christophe; Monnier Nicole; Bieth Eric; Khau Van Kien Philippe; Desmet François-Olivier; Humbertclaude Véronique; Kaplan Jean-Claude; Chelly Jamel; Claustres Mireille
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.
Kaplan Jean-Claude
Gene table of monogenic neuromuscular disorders (nuclear genome only) Vol 19. No 1 January 2009.
Trabelsi Madiha; Kavian Niloufar; Daoud Fatma; Commere Virginie; Deburgrave Nathalie; Beugnet Caroline; Llense Stephane; Barbot Jean Claude; Vasson Aurélie; Kaplan Jean Claude; Leturcq France; Chelly Jamel
Revised spectrum of mutations in sarcoglycanopathies.

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2009: Tuffery-Giraud Sylvie; Béroud Christophe; Leturcq France; Yaou Rabah Ben; Hamroun Dalil; Michel-Calemard Laurence; Moizard Marie-Pierre; Bernard Rafaëlle; Cossée Mireille; Boisseau Pierre; Blayau Martine; Creveaux Isabelle; Guiochon-Mantel Anne; de Martinville Bérengère; Philippe Christophe; Monnier Nicole; Bieth Eric; Khau Van Kien Philippe; Desmet François-Olivier; Humbertclaude Véronique; Kaplan Jean-Claude; Chelly Jamel; Claustres Mireille
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.
Human mutation 2009;30(6):934-45.
2009: Kaplan Jean-Claude
Gene table of monogenic neuromuscular disorders (nuclear genome only) Vol 19. No 1 January 2009.
Neuromuscular disorders : NMD 2009;19(1):77-98.
2008: Trabelsi Madiha; Kavian Niloufar; Daoud Fatma; Commere Virginie; Deburgrave Nathalie; Beugnet Caroline; Llense Stephane; Barbot Jean Claude; Vasson Aurélie; Kaplan Jean Claude; Leturcq France; Chelly Jamel
Revised spectrum of mutations in sarcoglycanopathies.
European journal of human genetics : EJHG 2008;16(7):793-803.
2007: Deburgrave Nathalie; Daoud Fatma; Llense Stéphane; Barbot Jean Claude; Récan Dominique; Peccate Cécile; Burghes Arthur H M; Béroud Christophe; Garcia Luis; Kaplan Jean-Claude; Chelly Jamel; Leturcq France
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.
Human mutation 2007;28(2):183-95.
2005: Sáenz A; Leturcq F; Cobo A M; Poza J J; Ferrer X; Otaegui D; Camaño P; Urtasun M; Vílchez J; Gutiérrez-Rivas E; Emparanza J; Merlini L; Paisán C; Goicoechea M; Blázquez L; Eymard B; Lochmuller H; Walter M; Bonnemann C; Figarella-Branger D; Kaplan J C; Urtizberea J A; Martí-Massó J F; López de Munain A
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
Brain : a journal of neurology 2005;128(Pt 4):732-42.
2005: Hamroun Dalil; Béroud Christophe; Fontaine Bertrand; Kaplan Jean-Claude
Introducing the online version of the gene table for neuromuscular disease (nuclear genes only).
Neuromuscular disorders : NMD 2005;15(1):88.
2005: Leturcq France; Kaplan Jean-Claude
[Molecular bases of dystrophinopathies]
Journal de la Société de biologie 2005;199(1):5-11.
2004: Goyenvalle Aurélie; Vulin Adeline; Fougerousse Françoise; Leturcq France; Kaplan Jean-Claude; Garcia Luis; Danos Olivier
[An opening in Duchenne muscular dystrophy: persistent therapeutic rescue of dystrophin by vectorized antisense mediated exon skipping in mdx mice]
Médecine sciences : M/S 2004;20(12):1163-5.
2004: Goyenvalle Aurélie; Vulin Adeline; Fougerousse Françoise; Leturcq France; Kaplan Jean-Claude; Garcia Luis; Danos Olivier
Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping.
Science (New York, N.Y.) 2004;306(5702):1796-9.
2004: Romero Norma B; Braun Serge; Benveniste Olivier; Leturcq France; Hogrel Jean-Yves; Morris Glenn E; Barois Annie; Eymard Bruno; Payan Christine; Ortega Véronique; Boch Anne-Laure; Lejean Lise; Thioudellet Christine; Mourot Brigitte; Escot Christophe; Choquel Aurore; Recan Dominique; Kaplan Jean-Claude; Dickson George; Klatzmann David; Molinier-Frenckel Valérie; Guillet Jean-Gérard; Squiban Patrick; Herson Serge; Fardeau Michel
Phase I study of dystrophin plasmid-based gene therapy in Duchenne/Becker muscular dystrophy.
Human gene therapy 2004;15(11):1065-76.
2004: Canki-Klain Nina; Milic Astrid; Kovac Biserka; Trlaja Anuska; Grgicevic Damir; Zurak Niko; Fardeau Michel; Leturcq France; Kaplan Jean-Claude; Urtizberea J Andoni; Politano Luisa; Piluso Giulio; Feingold Josue
Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia.
American journal of medical genetics. Part A 2004;125A(2):152-6.
2004: Béroud Christophe; Carrié Alain; Beldjord Chérif; Deburgrave Nathalie; Llense Stéphane; Carelle Nadège; Peccate Cécile; Cuisset Jean Marie; Pandit Florence; Carré-Pigeon Frédérique; Mayer Michèle; Bellance Rémi; Récan Dominique; Chelly Jamel; Kaplan Jean Claude; Leturcq France
Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene.
Neuromuscular disorders : NMD 2004;14(1):10-8.
2003: Urtizberea J Andoni; Fan Qi Shi; Vroom Elizabeth; Récan Dominique; Kaplan Jean Claude
Looking under every rock: Duchenne muscular dystrophy and traditional Chinese medicine.
Neuromuscular disorders : NMD 2003;13(9):705-7.
2003: Keyeux Genoveva; Rodas Clemencia; Bienvenu Thierry; Garavito Pilar; Vidaud Dominique; Sanchez Dora; Kaplan Jean-Claude; Aristizábal Gustavo
CFTR mutations in patients from Colombia: implications for local and regional molecular diagnosis programs.
Human mutation 2003;22(3):259.
2002: Kaplan Jean-Claude; Fontaine Bertrand
Neuromuscular disorders: gene location.
Neuromuscular disorders : NMD 2002;12(3):324-33.
2002: Kaplan Jean-Claude; Fontaine Bertrand
Neuromuscular disorders: gene location.
Neuromuscular disorders : NMD 2002;12(2):214-23.
2001: Kaplan J C; Fontaine B
Neuromuscular disorders: gene location.
Neuromuscular disorders : NMD 2001;11(8):764-73.
2001: Romero N B; De Lonlay P; Llense S; Leturcq F; Touati G; Urtizberea J A; Saudubray J M; Munnich A; Kaplan J C; Récan D
Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with 'de novo' duplication of dystrophin gene.
Neuromuscular disorders : NMD 2001;11(5):494-8.
2001: Kaplan J C; Fontaine B
Neuromuscular disorders: gene location.
Neuromuscular disorders : NMD 2001;11(2):221-9.
2000: Canki-Klain N; Récan D; Milicic D; Llense S; Leturcq F; Deburgrave N; Kaplan J C; Debevec M; Zurak N
Clinical variability and molecular diagnosis in a four-generation family with X-linked Emery-Dreifuss muscular dystrophy.
Croatian medical journal 2000;41(4):389-95.
2000: Merlini L; Kaplan J C; Navarro C; Barois A; Bonneau D; Brasa J; Echenne B; Gallano P; Jarre L; Jeanpierre M; Kalaydjieva L; Leturcq F; Levi-Gomes A; Toutain A; Tournev I; Urtizberea A; Vallat J M; Voit T; Warter J M
Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation.
Neurology 2000;54(5):1075-9.
2000: Kaplan J C; Fontaine B
Neuromuscular disorders: gene location.Vol. 10 No. 2, February 2000.
Neuromuscular disorders : NMD 2000;10(2):I-VIII.
2000: Kaplan J C; Fontaine B
Neuromuscular disorders: gene location.
Neuromuscular disorders : NMD 2000;10(1):I-XV.
2000: Kaplan J C
[Presentation. The birth of molecular medicine]
Bulletin de l'Académie nationale de médecine 2000;184(7):1359-61.
1999: Puéchal X; Fajac I; Bienvenu T; Desmazes-Dufeu N; Hubert D; Kaplan J C; Menkès C J; Dusser D J
Increased frequency of cystic fibrosis deltaF508 mutation in bronchiectasis associated with rheumatoid arthritis.
The European respiratory journal : official journal of the European Society for Clinical Respiratory Physiology 1999;13(6):1281-7.
1998: Dinçer P; Piccolo F; Leturcq F; Kaplan J C; Jeanpierre M; Topaloglu H
Prenatal diagnosis of limb-girdle muscular dystrophy type 2C.
Prenatal diagnosis 1998;18(12):1300-3.
1998: Fajac I; Hubert D; Bienvenu T; Richaud-Thiriez B; Matran R; Kaplan J C; Dall'Ava-Santucci J; Dusser D J
Relationships between nasal potential difference and respiratory function in adults with cystic fibrosis.
The European respiratory journal : official journal of the European Society for Clinical Respiratory Physiology 1998;12(6):1295-300.
1998: Urtasun M; Sáenz A; Roudaut C; Poza J J; Urtizberea J A; Cobo A M; Richard I; García Bragado F; Leturcq F; Kaplan J C; Martí Massó J F; Beckmann J S; López de Munain A
Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).
Brain : a journal of neurology 1998;121 ( Pt 9)():1735-47.
1998: Duclos F; Broux O; Bourg N; Straub V; Feldman G L; Sunada Y; Lim L E; Piccolo F; Cutshall S; Gary F; Quetier F; Kaplan J C; Jackson C E; Beckmann J S; Campbell K P
Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate.
Neuromuscular disorders : NMD 1998;8(1):30-8.
1998: Bienvenu T; Bousquet S; Vidaud D; Hubert D; Francoual C; Beldjord C; Kaplan J C
A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations in brief no. 175. Online.
Human mutation 1998;12(3):213-4.
1998: Steffann J; Vidaud D; Bousquet S; Jullien M; Ninot A; Kaplan J C; Beldjord C; Bienvenu T
Novel double mutant CF allele identified in a cystic fibrosis patient with meconium ileus.
Annales de génétique 1998;41(4):213-5.
1998: Bienvenu T; Lepercq J; Allard J P; Hubert D; Francoual C; Beldjord C; Kaplan J C
Compound heterozygotes for a CF mutation and the 5T splice variant associated with variable presentations in a French family.
Annales de génétique 1998;41(1):63-4.
1997: Romero N B; Récan D; Rigal O; Leturcq F; Llense S; Barbot J C; Deburgrave N; Cheval M A; Deniau F; Kaplan J C
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.
Neuromuscular disorders : NMD 1997;7(8):499-504.
1997: Quinlivan R M; Robb S A; Sewry C; Dubowitz V; Piccolo F; Kaplan J C
Absence of alpha-sarcoglycan and novel missense mutations in the alpha-sarcoglycan gene in a young British girl with muscular dystrophy.
Developmental medicine and child neurology 1997;39(11):770-4.
1997: Dinçer P; Leturcq F; Richard I; Piccolo F; Yalnizoglu D; de Toma C; Akçören Z; Broux O; Deburgrave N; Brenguier L; Roudaut C; Urtizberea J A; Jung D; Tan E; Jeanpierre M; Campbell K P; Kaplan J C; Beckmann J S; Topaloglu H
A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey.
Annals of neurology 1997;42(2):222-9.
1997: Carrié A; Piccolo F; Leturcq F; de Toma C; Azibi K; Beldjord C; Vallat J M; Merlini L; Voit T; Sewry C; Urtizberea J A; Romero N; Tomé F M; Fardeau M; Sunada Y; Campbell K P; Kaplan J C; Jeanpierre M
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).
Journal of medical genetics 1997;34(6):470-5.
1997: Bienvenu T; Bousquet S; Lyonnet S; Kaplan J C; Beldjord C
1283 del A: a novel mutation in exon 8 of the cystic fibrosis gene.
Human heredity 1997;47(3):173-5.
1997: Eymard B; Romero N B; Leturcq F; Piccolo F; Carrié A; Jeanpierre M; Collin H; Deburgrave N; Azibi K; Chaouch M; Merlini L; Thémar-Noël C; Penisson I; Mayer M; Tanguy O; Campbell K P; Kaplan J C; Tomé F M; Fardeau M
Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy.
Neurology 1997;48(5):1227-34.
1997: Bienvenu T; Adjiman M; Thiounn N; Jeanpierre M; Hubert D; Lepercoq J; Francoual C; Wolf J; Izard V; Jouannet P; Kaplan J C; Beldjord C
Molecular diagnosis of congenital bilateral absence of the vas deferens: analyses of the CFTR gene in 64 French patients.
Annales de génétique 1997;40(1):5-9.
1996: Jeanpierre M; Carrié A; Piccolo F; Leturcq F; Azibi K; De Toma C; Beldjord C; Merlini L; Voit T; Romero N; Sunada Y; Tomé F M; Fardeau M; Campbell K P; Kaplan J C
From adhalinopathies to alpha-sarcoglycanopathies: an overview.
Neuromuscular disorders : NMD 1996;6(6):463-5.
1996: Piccolo F; Jeanpierre M; Leturcq F; Dodé C; Azibi K; Toutain A; Merlini L; Jarre L; Navarro C; Krishnamoorthy R; Tomé F M; Urtizberea J A; Beckmann J S; Campbell K P; Kaplan J C
A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India.
Human molecular genetics 1996;5(12):2019-22.
1996: Hubert D; Bienvenu T; Desmazes-Dufeu N; Fajac I; Lacronique J; Matran R; Kaplan J C; Dusser D J
Genotype-phenotype relationships in a cohort of adult cystic fibrosis patients.
The European respiratory journal : official journal of the European Society for Clinical Respiratory Physiology 1996;9(11):2207-14.
1996: Bienvenu T; Cartault F; Lesure F; Renouil M; Beldjord C; Kaplan J C
A splicing mutation in intron 16 of the cystic fibrosis transmembrane conductance regulator gene, associated with severe disease, is common on Reunion Island.
Human heredity 1996;46(3):168-71.
1996: Caliendo A M; Savara A; An D; DeVore K; Kaplan J C; D'Aquila R T
Effects of zidovudine-selected human immunodeficiency virus type 1 reverse transcriptase amino acid substitutions on processive DNA synthesis and viral replication.
Journal of virology 1996;70(4):2146-53.
1996: Oexle K; Herrmann R; Dodé C; Leturcq F; Hübner C; Kaplan J C; Mizuno Y; Ozawa E; Campbell K P; Voit T
Neurosensory hearing loss in secondary adhalinopathy.
Neuropediatrics 1996;27(1):32-6.
1996: Jung D; Leturcq F; Sunada Y; Duclos F; Tomé F M; Moomaw C; Merlini L; Azibi K; Chaouch M; Slaughter C; Fardeau M; Kaplan J C; Campbell K P
Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12.
FEBS letters 1996;381(1-2):15-20.
1996: Bienvenu T; Beldjord C; Chelly J; Fonknechten N; Hubert D; Dusser D; Kaplan J C
Analysis of alternative splicing patterns in the cystic fibrosis transmembrane conductance regulator gene using mRNA derived from lymphoblastoid cells of cystic fibrosis patients.
European journal of human genetics : EJHG 1996;4(3):127-34.
1996: Bienvenu T; Hubert D; Setbon E; Dusser D; Kaplan J C; Beldjord C
A novel missense mutation in exon 16 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in CBAVD patients.
Human mutation 1996;7(2):182.
1996: Pêcheux C; Gall A L; Kaplan J C; Dodé C
Sequence analysis of the CAG triplet repeats region in the Huntington disease gene (IT15) in several mammalian species.
Annales de génétique 1996;39(2):81-6.
1995: Bienvenu T; Lacronique V; Raymondjean M; Cazeneuve C; Hubert D; Kaplan J C; Beldjord C
Three novel sequence variations in the 5' upstream region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: two polymorphisms and one putative molecular defect.
Human genetics 1995;95(6):698-702.
1995: Pêcheux C; Mouret J F; Dürr A; Agid Y; Feingold J; Brice A; Dodé C; Kaplan J C
Sequence analysis of the CCG polymorphic region adjacent to the CAG triplet repeat of the HD gene in normal and HD chromosomes.
Journal of medical genetics 1995;32(5):399-400.
1995: Dürr A; Dodé C; Hahn V; Pêcheux C; Pillon B; Feingold J; Kaplan J C; Agid Y; Brice A
Diagnosis of "sporadic" Huntington's disease.
Journal of the neurological sciences 1995;129(1):51-5.
1995: Bienvenu T; Cazeneuve C; Fajac I; Dusser D; Hubert D; Kaplan J C; Beldjord C
Identification of a novel missense mutation G239R in exon 6a of the CFTR gene.
Human heredity 1995;45(1):53-4.
1995: Cazeneuve C; Beldjord C; Kaplan J C; Bienvenu T
Diagnostic usefulness of the polymorphism of the GT dinucleotide and the polythymidine tract in intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Annales de génétique 1995;38(4):202-5.
1995: Margalith M; D'Aquila R T; Manion D J; Basgoz N; Bechtel L J; Smith B R; Kaplan J C; Hirsch M S
HIV-1 DNA in fibroblast cultures infected with urine from HIV-seropositive cytomegalovirus (CMV) excretors.
Archives of virology 1995;140(5):927-35.
1995: Bienvenu T; Cazeneuve C; Kaplan J C; Beldjord C
Mutation heterogeneity of cystic fibrosis in France: screening by denaturing gradient gel electrophoresis using psoralen-modified oligonucleotide.
Human mutation 1995;6(1):23-9.
1994: Allamand V; Leturcq F; Piccolo F; Jeanpierre M; Azibi K; Roberds S L; Lim L E; Campbell K P; Beckmann J S; Kaplan J C
Adhalin gene polymorphism.
Human molecular genetics 1994;3(12):2269.
1994: Bienvenu T; Hubert D; Fonknechten N; Dusser D; Kaplan J C; Beldjord C
Unexpected inactivation of acceptor consensus splice sequence by a -3 C to T transition in intron 2 of the CFTR gene.
Human genetics 1994;94(1):65-8.
1994: Tihy F; Vogt N; Recan D; Malfoy B; Leturcq F; Coquet M; Serville F; Fontan D; Guillard J M; Kaplan J C
Skewed inactivation of an X chromosome deleted at the dystrophin gene in an asymptomatic mother and her affected daughter.
Human genetics 1994;93(5):563-7.
1994: Matsumura K; Tomé F M; Collin H; Leturcq F; Jeanpierre M; Kaplan J C; Fardeau M; Campbell K P
Expression of dystrophin-associated proteins in dystrophin-positive muscle fibers (revertants) in Duchenne muscular dystrophy.
Neuromuscular disorders : NMD 1994;4(2):115-20.
1994: Bienvenu T; Cazeneuve C; Beldjord C; Dusser D; Kaplan J C; Hubert D
A new missense mutation (G27E) in exon 2 of the CFTR gene in a mildly affected cystic fibrosis patient.
Human molecular genetics 1994;3(2):365-6.
1994: Zhang D; Caliendo A M; Eron J J; DeVore K M; Kaplan J C; Hirsch M S; D'Aquila R T
Resistance to 2',3'-dideoxycytidine conferred by a mutation in codon 65 of the human immunodeficiency virus type 1 reverse transcriptase.
Antimicrobial agents and chemotherapy 1994;38(2):282-7.
1994: Matsumura K; Burghes A H; Mora M; Tomé F M; Morandi L; Cornello F; Leturcq F; Jeanpierre M; Kaplan J C; Reinert P
Immunohistochemical analysis of dystrophin-associated proteins in Becker/Duchenne muscular dystrophy with huge in-frame deletions in the NH2-terminal and rod domains of dystrophin.
The Journal of clinical investigation 1994;93(1):99-105.
1994: Ragot T; Stratford-Perricaudet L D; Vincent N; Chafey P; Vigne E; Gilgenkrantz H; Couton D; Briand P; Kaplan J C; Kahn A
Adenovirus-mediated transfer of a human dystrophin gene to skeletal muscle of mdx mouse.
Gene therapy 1994;1 Suppl 1():S53-4.
1994: Bienvenu T; Petitpretz P; Beldjord C; Kaplan J C
A missense mutation (F87L) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene.
Human mutation 1994;3(4):395-6.
1994: Bienvenu T; Lenoir G; Fonknechten N; Desclaux-Arramond F; Kaplan J C; Beldjord C
Identification of a new frameshift mutation (3724 delG) in exon 19 of the CFTR gene.
Human mutation 1994;3(1):69-70.
1993: Fonknechten N; Bienvenu T; Moriscot C; Beldjord C; Kahn A; Figarella C; Kaplan J C
Skipping of exon 9 in CFTR mRNA of human adult and fetal pancreas from non-CF individuals.
Human molecular genetics 1993;2(12):2141-2.
1993: Dodé C; Dürr A; Pêcheux C; Mouret J F; Belal S; Bachner L; Agid Y; Kaplan J C; Brice A; Feingold J
Huntington's disease in French families: CAG repeat expansion and linkage disequilibrium analysis.
Comptes rendus de l'Académie des sciences. Série III, Sciences de la vie 1993;316(11):1374-80.
1993: Fernandez E; Bienvenu T; Desclaux Arramond F; Beldjord K; Kaplan J C; Beldjord C
Use of chemical clamps in denaturing gradient gel electrophoresis: application in the detection of the most frequent Mediterranean beta-thalassemic mutations.
PCR methods and applications 1993;3(2):122-4.
1993: Vincent N; Ragot T; Gilgenkrantz H; Couton D; Chafey P; Grégoire A; Briand P; Kaplan J C; Kahn A; Perricaudet M
Long-term correction of mouse dystrophic degeneration by adenovirus-mediated transfer of a minidystrophin gene.
Nature genetics 1993;5(2):130-4.
1993: Matsumura K; Ohlendieck K; Ionasescu V V; Tomé F M; Nonaka I; Burghes A H; Mora M; Kaplan J C; Fardeau M; Campbell K P
The role of the dystrophin-glycoprotein complex in the molecular pathogenesis of muscular dystrophies.
Neuromuscular disorders : NMD 1993;3(5-6):533-5.
1993: Lambert M; Chafey P; Hugnot J P; Koulakoff A; Berwald-Netter Y; Billard C; Morris G E; Kahn A; Kaplan J C; Gilgenkrantz H
Expression of the transcripts initiated in the 62nd intron of the dystrophin gene.
Neuromuscular disorders : NMD 1993;3(5-6):519-24.
1993: Matsumura K; Tomé F M; Ionasescu V; Ervasti J M; Anderson R D; Romero N B; Simon D; Récan D; Kaplan J C; Fardeau M
Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking COOH-terminal domains of dystrophin.
The Journal of clinical investigation 1993;92(2):866-71.
1993: Matsumura K; Nonaka I; Tomé F M; Arahata K; Collin H; Leturcq F; Récan D; Kaplan J C; Fardeau M; Campbell K P
Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having in-frame deletions in the rod domain of dystrophin.
American journal of human genetics 1993;53(2):409-16.
1993: Fardeau M; Matsumura K; Tomé F M; Collin H; Leturcq F; Kaplan J C; Campbell K P
Deficiency of the 50 kDa dystrophin associated glycoprotein (adhalin) in severe autosomal recessive muscular dystrophies in children native from European countries.
Comptes rendus de l'Académie des sciences. Série III, Sciences de la vie 1993;316(8):799-804.
1993: Bienvenu T; Beldjord C; Fonknechten N; Kaplan J C; Lenoir G
Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene.
Journal of medical genetics 1993;30(7):621-2.
1993: Eron J J; Chow Y K; Caliendo A M; Videler J; Devore K M; Cooley T P; Liebman H A; Kaplan J C; Hirsch M S; D'Aquila R T
pol mutations conferring zidovudine and didanosine resistance with different effects in vitro yield multiply resistant human immunodeficiency virus type 1 isolates in vivo.
Antimicrobial agents and chemotherapy 1993;37(7):1480-7.
1993: Margalith M; Medina D J; Hsiung G D; Smith B R; D'Aquila R T; Kaplan J C; Bechtel L; Wang M Z; Skolnik P R; Hirsch M S
Interactions between HIV-1 and cytomegalovirus in human osteosarcoma cells carrying both viruses.
AIDS research and human retroviruses 1993;9(6):519-27.
1993: Hugnot J P; Gilgenkrantz H; Chafey P; Lambert M; Eveno E; Kaplan J C; Kahn A
Expression of the dystrophin gene in cultured fibroblasts.
Biochemical and biophysical research communications 1993;192(1):69-74.
1993: Ragot T; Vincent N; Chafey P; Vigne E; Gilgenkrantz H; Couton D; Cartaud J; Briand P; Kaplan J C; Perricaudet M
Efficient adenovirus-mediated transfer of a human minidystrophin gene to skeletal muscle of mdx mice.
Nature 1993;361(6413):647-50.
1993: Chow Y K; Hirsch M S; Merrill D P; Bechtel L J; Eron J J; Kaplan J C; D'Aquila R T
Use of evolutionary limitations of HIV-1 multidrug resistance to optimize therapy.
Nature 1993;361(6413):650-4.
1993: Hugnot J P; Gilgenkrantz H; Jeanpierre M; Chelly J; Kaplan J C; Kahn A
Striking conservation of the brain-specific region of the dystrophin gene.
Mammalian genome : official journal of the International Mammalian Genome Society 1993;4(7):393-6.
1993: Bienvenu T; Bousquet S; Herbulot C; Cartault F; Kaplan J C; Beldjord C
Simultaneous detection of the two prevalent mutations in the cystic fibrosis gene in Reunion Island.
Human mutation 1993;2(4):306-8.
1992: Chevalier-Porst F; Chomel J C; Hillaire D; Kitzis A; Kaplan J C; Goutaland R; Mathieu M; Bozon D
A nonsense mutation in exon 4 of the cystic fibrosis gene frequent among the population of the Reunion Island.
Human molecular genetics 1992;1(8):647-8.
1992: Matsumura K; Tomé F M; Collin H; Azibi K; Chaouch M; Kaplan J C; Fardeau M; Campbell K P
Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy.
Nature 1992;359(6393):320-2.
1992: Hugnot J P; Gilgenkrantz H; Vincent N; Chafey P; Morris G E; Monaco A P; Berwald-Netter Y; Koulakoff A; Kaplan J C; Kahn A
Distal transcript of the dystrophin gene initiated from an alternative first exon and encoding a 75-kDa protein widely distributed in nonmuscle tissues.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(16):7506-10.
1992: Fonknechten N; Chomel J C; Kitzis A; Kahn A; Kaplan J C
Skipping of exon 5 as a consequence of the 711 + 1 G-->T mutation in the CFTR gene.
Human molecular genetics 1992;1(4):281-2.
1992: Conway B; Bechtel L J; Adler K A; D'Aquila R T; Kaplan J C; Hirsch M S
Comparison of spot-blot and microtitre plate methods for the detection of HIV-1 PCR products.
Molecular and cellular probes 1992;6(3):245-9.
1992: Gilgenkrantz H; Hugnot J P; Lambert M; Chafey P; Kaplan J C; Kahn A
Positive and negative regulatory DNA elements including a CCArGG box are involved in the cell type-specific expression of the human muscle dystrophin gene.
The Journal of biological chemistry 1992;267(15):10823-30.
1992: Eron J J; Gorczyca P; Kaplan J C; D'Aquila R T
Susceptibility testing by polymerase chain reaction DNA quantitation: a method to measure drug resistance of human immunodeficiency virus type 1 isolates.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(8):3241-5.
1992: Fonknechten N; Chelly J; Lepercq J; Kahn A; Kaplan J C; Kitzis A; Chomel J C
CFTR illegitimate transcription in lymphoid cells: quantification and applications to the investigation of pathological transcripts.
Human genetics 1992;88(5):508-12.
1992: Bienvenu T; Sebillon P; Labie D; Kaplan J C; Beldjord C
Rapid and direct detection of the most frequent Mediterranean beta-thalassemic mutations by multiplex allele-specific enzymatic amplification.
Human biology; an international record of research 1992;64(1):107-13.
1992: Conway B; Baskar P; Bechtel L J; Kaplan J C; Hirsch M S; Schooley R T; Pincus S H
Eosinophils as host cells for HIV-1.
Archives of virology 1992;127(1-4):373-7.
1992: Kaplan J C; Kahn A; Chelly J
Illegitimate transcription: its use in the study of inherited disease.
Human mutation 1992;1(5):357-60.
1992: Kaplan J C; Chelly J; Gilgenkrantz H; Fonknechten N; Kahn A
[Illegitimate transcription: discovery and application to gene molecular pathology]
Comptes rendus des séances de la Société de biologie et de ses filiales 1992;186(4):371-6.
1992: Gilgenkrantz H; Chelly J; Récan D; Chafey P; Kaplan J C
[Molecular pathology of Duchenne and Becker muscular dystrophy]
Comptes rendus des séances de la Société de biologie et de ses filiales 1992;186(4):349-53.
1991: Chelly J; Gilgenkrantz H; Hugnot J P; Hamard G; Lambert M; Récan D; Akli S; Cometto M; Kahn A; Kaplan J C
Illegitimate transcription. Application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients.
The Journal of clinical investigation 1991;88(4):1161-6.
1991: D'Aquila R T; Bechtel L J; Videler J A; Eron J J; Gorczyca P; Kaplan J C
Maximizing sensitivity and specificity of PCR by pre-amplification heating.
Nucleic acids research 1991;19(13):3749.
1991: Chelly J; Hugnot J P; Concordet J P; Kaplan J C; Kahn A
Illegitimate (or ectopic) transcription proceeds through the usual promoters.
Biochemical and biophysical research communications 1991;178(2):553-7.
1991: Hugnot J P; Récan D; Jeanpierre M; Kaplan J C; Tolun A
A highly informative CACA repeat polymorphism upstream of the human dystrophin gene (DMD).
Nucleic acids research 1991;19(11):3159.
1991: Khurana T S; Watkins S C; Chafey P; Chelly J; Tomé F M; Fardeau M; Kaplan J C; Kunkel L M
Immunolocalization and developmental expression of dystrophin related protein in skeletal muscle.
Neuromuscular disorders : NMD 1991;1(3):185-94.
1991: Sebillon P; Bienvenu T; Girot R; Labie D; Kaplan J C; Beldjord C
Detection of the most frequent beta-thalassemic defect in Southeast Asia by PCR.
Hemoglobin 1991;15(4):313-5.
1990: Chomel J C; Haliassos A; Tesson L; Kaplan J C; Kitzis A
Frequency of the major CF mutation in French CF patients.
Human genetics 1990;85(4):397-8.
1990: Bachner L; Vinet M C; Lacave R; Babron M C; Rondeau E; Sraer J D; Chevet D; Kaplan J C
Linkage study of a large family with autosomal dominant polycystic kidney disease with reduced expression. Absence of linkage to the PKD 1 locus.
Human genetics 1990;85(2):221-7.
1990: Melani C; Haliassos A; Chomel J C; Miglino M; Ferraris A M; Gaetani G F; Kaplan J C; Kitzis A
Ras activation in myelodysplastic syndromes: clinical and molecular study of the chronic phase of the disease.
British journal of haematology 1990;74(4):408-13.
1990: Chelly J; Hamard G; Koulakoff A; Kaplan J C; Kahn A; Berwald-Netter Y
Dystrophin gene transcribed from different promoters in neuronal and glial cells.
Nature 1990;344(6261):64-5.
1990: Chelly J; Montarras D; Pinset C; Berwald-Netter Y; Kaplan J C; Kahn A
Quantitative estimation of minor mRNAs by cDNA-polymerase chain reaction. Application to dystrophin mRNA in cultured myogenic and brain cells.
European journal of biochemistry / FEBS 1990;187(3):691-8.
1990: Conway B; Adler K E; Bechtel L J; Kaplan J C; Hirsch M S
Detection of HIV-1 DNA in crude cell lysates of peripheral blood mononuclear cells by the polymerase chain reaction and nonradioactive oligonucleotide probes.
Journal of acquired immune deficiency syndromes 1990;3(11):1059-64.
1989: Gilgenkrantz H; Chelly J; Lambert M; Récan D; Barbot J C; van Ommen G J; Kaplan J C
Analysis of molecular deletions with cDNA probes in patients with Duchenne and Becker muscular dystrophies.
Genomics 1989;5(3):574-80.
1989: Haliassos A; Chomel J C; Grandjouan S; Kruh J; Kaplan J C; Kitzis A
Detection of minority point mutations by modified PCR technique: a new approach for a sensitive diagnosis of tumor-progression markers.
Nucleic acids research 1989;17(20):8093-9.
1989: Haliassos A; Chomel J C; Tesson L; Baudis M; Kruh J; Kaplan J C; Kitzis A
Modification of enzymatically amplified DNA for the detection of point mutations.
Nucleic acids research 1989;17(9):3606.
1989: Chomel J C; Haliassos A; Tesson L; Mathieu M; Kaplan J C; Kitzis A
Usefulness of linkage disequilibrium of KM-19 and XV-2c DNA probes for genetic counselling in a high-risk CF family.
Prenatal diagnosis 1989;9(4):297-300.
1989: Chelly J; Concordet J P; Kaplan J C; Kahn A
Illegitimate transcription: transcription of any gene in any cell type.
Proceedings of the National Academy of Sciences of the United States of America 1989;86(8):2617-21.
1988: Kitzis A; Chomel J C; Haliassos A; Tesson L; Kaplan J C; Feingold J; Giraud G; Lable A; Dastugue B; Dumur V
Unusual segregation of cystic fibrosis alleles.
Nature 1988;336(6197):316.
1988: Vogt M W; Durno A G; Chou T C; Coleman L A; Paradis T J; Schooley R T; Kaplan J C; Hirsch M S
Synergistic interaction of 2',3'-dideoxycytidine and recombinant interferon-alpha-A on replication of human immunodeficiency virus type 1.
The Journal of infectious diseases 1988;158(2):378-85.
1988: Kitzis A; Chomel J C; Kaplan J C; Giraud G; Labbe A; Dastugue B; Dumur V; Farriaux J P; Roussel P; Williamson R
Unusual segregation of cystic fibrosis allele to males.
Nature 1988;333(6170):215.
1988: Pernelle J J; Chafey P; Chelly J; Wahrmann J P; Kaplan J C; Tomé F; Fardeau M
Nebulin seen in DMD males including one patient with a large DNA deletion encompassing the DMD gene.
Human genetics 1988;78(3):285.
1988: Chelly J; Marlhens F; Dutrillaux B; Van Ommen G J; Lambert M; Haioun B; Boissinot G; Fardeau M; Kaplan J C
Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia.
Human genetics 1988;78(3):222-7.
1987: Marlhens F; Chelly J; Kaplan J C; Lefrancois D; Harpey J P; Dutrillaux B
Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia.
Human genetics 1987;77(4):379-83.
1987: Kaplan J C; Crawford D C; Durno A G; Schooley R T
Inactivation of human immunodeficiency virus by Betadine.
Infection control : IC 1987;8(10):412-4.
1987: Blumberg R S; Hartshorn K L; Ardman B; Kaplan J C; Paradis T; Vogt M; Hirsch M S; Schooley R T
Dot immunobinding assay for detection of human immunodeficiency virus-associated antigens.
Journal of clinical microbiology 1987;25(10):1989-92.
1987: Walker B D; Chakrabarti S; Moss B; Paradis T J; Flynn T; Durno A G; Blumberg R S; Kaplan J C; Hirsch M S; Schooley R T
HIV-specific cytotoxic T lymphocytes in seropositive individuals.
Nature 1987;328(6128):345-8.
1986: Chelly J; Marlhens F; Le Marec B; Jeanpierre M; Lambert M; Hamard G; Dutrillaux B; Kaplan J C
De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy.
Human genetics 1986;74(2):193-6.
1986: Kunkel L M; Hejtmancik J F; Caskey C T; Speer A; Monaco A P; Middlesworth W; Colletti C A; Bertelson C; Müller U; Bresnan M; Shapiro F; Tantravahi U; Speer J; Latt S A; Bartlett R; Pericak-Vance M A; Roses A D; Thompson M W; Ray P N; Worton R G; Fischbeck K H; Gallano P; Coulon M; Duros C; Boue J; Junien C; Chelly J; Hamard G; Jeanpierre M; Lambert M; Kaplan J C; Emery A; Dorkins H; McGlade S; Davies K E; Boehm C; Arveiler B; Lemaire C; Morgan G J; Denton M J; Amos J; Bobrow M; Benham F; Boswinkel E; Cole C; Dubowitz V; Hart K; Hodgson S; Johnson L; Walker A; Roncuzzi L; Ferlini A; Nobile C; Romeo G; Wilcox D E; Affara N A; Ferguson-Smith M A; Lindolf M; Kaariainen H; de la Chapelle A; Ionasescu V; Searby C; Ionasescu R; Bakker E; van Ommen G J; Pearson P L; Greenberg C R; Hamerton J L; Wrogemann K; Doherty R A; Polakowska R; Hyser C; Quirk S; Thomas N; Harper J F; Darras B T; Francke U
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.
Nature 1986;322(6074):73-7.
1984: Julier C; Weil D; Couillin P; Côté J C; Nguyen V C; Foubert C; Boué A; Thirion J P; Kaplan J C; Junien C
The beta chorionic gonadotropin-beta luteinizing gene cluster maps to human chromosome 19.
Human genetics 1984;67(2):174-7.
1983: de la Chapelle A; Lenoir G; Boué J; Boué A; Gallano P; Huerre C; Szajnert M F; Jeanpierre M; Lalouel J M; Kaplan J C
Lambda Ig constant region genes are translocated to chromosome 8 in Burkitt's lymphoma with t(8;22).
Nucleic acids research 1983;11(4):1133-42.
1982: Huerre C; Junien C; Weil D; Chu M L; Morabito M; Van Cong N; Myers J C; Foubert C; Gross M S; Prockop D J; Boué A; Kaplan J C; de la Chapelle A; Ramirez F
Human type I procollagen genes are located on different chromosomes.
Proceedings of the National Academy of Sciences of the United States of America 1982;79(21):6627-30.
1982: Junien C; Weil D; Myers J C; Van Cong N; Chu M L; Foubert C; Gross M S; Prockop D J; Kaplan J C; Ramirez F
Assignment of the human pro alpha 2(I) collagen structural gene (COLIA2) to chromosome 7 by molecular hybridization.
American journal of human genetics 1982;34(3):381-7.

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