Jean-Claude Kaplan : rechercher sur Z-Library

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1

A novel missense mutation in exon 16 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in CBAVD patients

Thierry Bienvenu, Dominique Hubert, Eric Setbon, Daniel Dusser, Jean-Claude Kaplan, Cherif Beldjord

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 106 KB

english, 1996

2

Assessment of the structural and functional impact of in-frame mutations of theDMDgene, using the tools included in the eDystrophin online database

Aurélie Nicolas, Céline Lucchetti-Miganeh, Rabah Ben Yaou, Jean-Claude Kaplan, Jamel Chelly, France Leturcq, Frédérique Barloy-Hubler, Elisabeth Le Rumeur

Journal:

Orphanet Journal of Rare Diseases

Année:

2012

Langue:

english

Fichier:

PDF, 1.26 MB

english, 2012

3

Remarques sur les enzymopathies génétiques du globule rouge

Kaplan, Jean-Claude

Journal:

Année:

1972

Langue:

english

Fichier:

PDF, 697 KB

english, 1972

4

Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients

Thierry Bienvenu, Lilien Chertkoff, Cherif Beldjord, Edgardo Segal, Luis Carniglia, Cristina Barreiro, Jean-Claude Kaplan

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 219 KB

english, 1996

5

Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia

Nina Canki-Klain, Astrid Milic, Biserka Kovac, Anuska Trlaja, Damir Grgicevic, Niko Zurak, Michel Fardeau, France Leturcq, Jean-Claude Kaplan, J. Andoni Urtizberea, Luisa Politano, Giulio Piluso, Josu

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 104 KB

english, 2004

6

A novel mutation (Arg→Leu in exon 18) in factor VIII gene responsible for moderate hemophilia A

Khédoudja Nafa, Marlène Baudis, Nathalie Deburgrave, Jean-Michel Bardin, Yvette Sultan, Jean-Claude Kaplan, Marc Delpech

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 156 KB

english, 1992

7

Illegitimate transcription: Its use in the study of inherited disease

Jean-Claude Kaplan, Axel Kahn, Jamel Chelly

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 388 KB

english, 1992

8

Screening for mutations in factor VIII gene using the single-strand conformation polymorphism

Khédoudja Nafa, Farida Meriane, Thouraya Chellali, Mohamed Benabadji, Abderrezak Reghis, Michèle Viemont, Jean-Claude Kaplan, Marc Delpech

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 498 KB

english, 1995

9

Mutation heterogeneity of cystic fibrosis in France: Screening by denaturing gradient gel electrophoresis using psoralen-modified oligonucleotide

Thierry Bienvenu, Cecile Cazeneuve, Jean-Claude Kaplan, Cherif Beldjord

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 595 KB

english, 1995

10

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

Nathalie Deburgrave, Fatma Daoud, Stéphane Llense, Jean Claude Barbot, Dominique Récan, Cécile Peccate, Arthur H.M. Burghes, Christophe Béroud, Luis Garcia, Jean-Claude Kaplan, Jamel Chelly, France Le

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 326 KB

english, 2007

11

CFTR mutations in patients from Colombia: Implications for local and regional molecular diagnosis programs

Genoveva Keyeux, Clemencia Rodas, Thierry Bienvenu, Pilar Garavito, Dominique Vidaud, Dora Sanchez, Jean-Claude Kaplan, Gustavo Aristizábal

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 2.98 MB

english, 2003

12

Linkage study of a large family with autosomal dominant polycystic kidney disease with reduced expression

Lucien Bachner, Marie Claude Vinet, Roger Lacave, Marie Claude Babron, Eric Rondeau, Jean Daniel Sraer, Dominique Chevet, Jean-Claude Kaplan

Journal:

Année:

1990

Langue:

english

Fichier:

PDF, 692 KB

english, 1990

13

Skewed inactivation of an X chromosome deleted at the dystrophin gene in an asymptomatic mother and her affected daughter

Frédérique Tihy, Nicolas Vogt, Dominique Recan, Bernard Malfoy, France Leturcq, Michelle Coquet, Françoise Serville, Daniel Fontan, Jean-Michel Guillard, Jean-Claude Kaplan, Bernard Dutrillaux, Nicole

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 1.06 MB

english, 1994

14

A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23

Patrizia Amati, Jean-Claude Chomel, Annie Nivelon-Chevalier, Simone Gilgenkrantz, Alain Kitzis, Josseline Kaplan, Dominique Bonneau

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 298 KB

english, 1995

15

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

Thierry Bienvenu, Virginie Lacronique, Michel Raymondjean, Cecile Cazeneuve, Dominique Hubert, Jean-Claude Kaplan, Cherif Beldjord

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 860 KB

english, 1995

16

At least five polymorphic mutants account for the prevalence of glucose-6-phosphate dehydrogenase deficiency in Algeria

Khedoudja Nafa, Abderrezak Reghis, Naima Osmani, Lamia Baghli, Hassen Aït-Abbes, Mohamed Benabadji, Jean-Claude Kaplan, Tom Vulliamy, Lucio Luzzatto

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 467 KB

english, 1994

17

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

Nuria Fonknechten, Jamel Chelly, Jacques Lepercq, Axel Kahn, Jean-Claude Kaplan, Alain Kitzis, Jean-Claude Chomel

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 775 KB

english, 1992

18

Assignment of NADH-cytochrome b5reductase (DIA1locus) to human chromosome 22

Claudine Junien, Magdeleine Vibert, Dominique Weil, Nguyen Van-Cong, Jean-Claude Kaplan

Journal:

Année:

1978

Langue:

english

Fichier:

PDF, 377 KB

english, 1978

19

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

Jean-Jacques Pernelle, Philippe Chafey, Jamel Chelly, Juan Pedro Wahrmann, Jean-Claude Kaplan, Fernando Tomé, Michel Fardeau

Journal:

Année:

1988

Langue:

english

Fichier:

PDF, 146 KB

english, 1988

20

Striking conservation of the brain-specific region of the dystrophin gene

Jean-Philippe Hugnot, Hélène Gilgenkrantz, Marc Jeanpierre, Jamel Chelly, Jean-Claude Kaplan, Axel Kahn

Journal:

Mammalian Genome

Année:

1993

Langue:

english

Fichier:

PDF, 550 KB

english, 1993

21

Electrophoretic Study of Glutathione Reductase in Human Erythrocytes and Leucocytes

KAPLAN, JEAN-CLAUDE

Journal:

Année:

1968

Fichier:

PDF, 581 KB

1968

22

Generalised deficiency of cytochrome b5 reductase in congenital methaemoglobinaemia with mental retardation

LEROUX, ALENA, JUNIEN, CLAUDINE, KAPLAN, JEAN-CLAUDE, BAMBERGER, JACQUES

Journal:

Année:

1975

Fichier:

PDF, 251 KB

1975

23

Transcription of the dystrophin gene in human muscle and non-muscle tissues

Chelly, Jamel, Kaplan, Jean-Claude, Maire, Pascal, Gautron, Sophie, Kahn, Axel

Journal:

Année:

1988

Fichier:

PDF, 544 KB

1988

24

Dystrophin gene transcribed from different promoters in neuronal and glial cells

Chelly, Jamel, Hamard, Ghislaine, Koulakoff, Annette, Kaplan, Jean-Claude, Kahn, Axel, Berwald-Netter, Yoheved

Journal:

Année:

1990

Fichier:

PDF, 226 KB

1990

25

Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy

Matsumura, Kiichiro, Tomé, Fernando M. S., Collin, Huguette, Azibi, Kemal, Chaouch, Malika, Kaplan, Jean-Claude, Fardeau, Michel, Campbell, Kevin P.

Journal:

Année:

1992

Fichier:

PDF, 493 KB

1992

26

Diaphorase P: A new fetal isozyme identified in human placenta

Danièle Choury, Jean-Claude Kaplan

Journal:

Biochimica et Biophysica Acta (BBA) - Enzymology

Année:

1980

Langue:

english

Fichier:

PDF, 624 KB

english, 1980

27

Direct Enzyme Titration Curve of NADH: Cytochrome b5 Reductase by Combined Isoelectric Focusing/Electrophoresis : Interactions between Enzyme and Cytochrome b5

Danielle LOSTANLEN, Gérard GACON, Jean-Claude KAPLAN

Journal:

Année:

1980

Langue:

english

Fichier:

PDF, 537 KB

english, 1980

28

Quantitative estimation of minor mRNAs by cDNA-polymerase chain reaction : Application to dystrophin mRNA in cultured myogenic and brain cells

Jamel CHELLY, Didier MONTARRAS, Christian PINSET, Yoheved BERWALD-NETTER, Jean-Claude KAPLAN, Axel KAHN

Journal:

Année:

1990

Langue:

english

Fichier:

PDF, 829 KB

english, 1990

29

Heterogeneity of the rat NADH-cytochrome-b5-reductase transcripts resulting from multiple alternative first exons

Luisa MOTA VIEIRA, Jean-Claude KAPLAN, Axel KAHN, Alena LEROUX

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 1.03 MB

english, 1994

30

Multiple forms of cyclic adenosine 3′,5′-monophosphate phosphodiesterase from human blood platelets. I. Kinetic and electrophoretic characterization of two molecular species

Anne-Lise Pichard, Jacques Hanoune, Jean-Claude Kaplan

Journal:

Biochimica et Biophysica Acta (BBA) - Enzymology

Année:

1973

Langue:

english

Fichier:

PDF, 516 KB

english, 1973

31

Soluble and microsomal forms of NADH-cytochrome b5 reductase from human placenta Similarity with NADH-methemoglobin reductase from human erythrocytes

Alena Leroux, Lech Torlinski, Jean-Claude Kaplan

Journal:

Biochimica et Biophysica Acta (BBA) - Enzymology

Année:

1977

Langue:

english

Fichier:

PDF, 882 KB

english, 1977

32

Illegitimate (or ectopic) transcription proceeds through the usual promoters

Jamel Chelly, Jean-Philippe Hugnot, Jean-Paul Concordet, Jean-Claude Kaplan, Axel Kahn

Journal:

Biochemical and Biophysical Research Communications

Année:

1991

Langue:

english

Fichier:

PDF, 591 KB

english, 1991

33

Phenobarbital-induced increase of NADH-cytochrome b5 reductase activity in rat liver microsonies

Ademar Vieira De Barros, Jean-Claude Kaplan, Philippe Duvaldestin, Pierre Berthelot

Journal:

Biochemical Pharmacology

Année:

1978

Langue:

english

Fichier:

PDF, 240 KB

english, 1978

34

Les glycoprotéines de l'urine normale: I. répartition des constituants glucidiques des glycoprotéines au cours du fractionnement

Roland Bourrillon, Jean-Claude Kaplan

Journal:

Clinica Chimica Acta

Année:

1960

Fichier:

PDF, 706 KB

1960

35

Dosage enzymatique de l'alcool sanguin par microméthode colorimétrique

Hélène Léric, Jean-Claude Kaplan, Georges Broun

Journal:

Clinica Chimica Acta

Année:

1970

Fichier:

PDF, 378 KB

1970

36

Comportement immunologique de la glucose-6-phosphate-deshydrogenase érythrocytaire chez des mutants déficients

Raymonde Rosa, Yvonne Alexandre, Jean-Claude Kaplan, Jean-Claude Dreyfus

Journal:

Clinica Chimica Acta

Année:

1970

Fichier:

PDF, 349 KB

1970

37

Red-cell pyrimidine 5′-nucleotidase and lead poisoning

Hélène-annie Buc, Jean-claude Kaplan

Journal:

Clinica Chimica Acta

Année:

1978

Langue:

english

Fichier:

PDF, 402 KB

english, 1978

38

A radioassay for pyrimidine-5′-nucleotidase activity

Hélène Buc, Jean-Claude Kaplan

Journal:

Clinica Chimica Acta

Année:

1978

Langue:

english

Fichier:

PDF, 322 KB

english, 1978

39

Study of a case with severe red-cell pyrimidine 5'-nucleotidase deficiency

Hélène-Annie Buc, Jean-Claude Kaplan, Albert Najman

Journal:

Clinica Chimica Acta

Année:

1979

Langue:

english

Fichier:

PDF, 433 KB

english, 1979

40

Expression of NADH-cytochrome b5 reductase during dimethyl sulfoxide-induced differentiation of Friend erythroleukemia cells

Danielle Lostanlen, Jean-Claude Kaplan

Journal:

Année:

1982

Langue:

english

Fichier:

PDF, 408 KB

english, 1982

41

Absence of γ-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12

Daniel Jung, France Leturcq, Yoshihide Sunada, Franck Duclos, Fernando M.S. Tomé, Carolyn Moomaw, Luciano Merlini, Kemal Azibi, Malika Chaouch, Clive Slaughter, Michel Fardeau, Jean-Claude Kaplan, Kev

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 832 KB

english, 1996

42

Introducing the online version of the gene table for neuromuscular disease (nuclear genes only)

Dalil Hamroun, Christophe Béroud, Bertrand Fontaine, Jean-Claude Kaplan

Journal:

Neuromuscular Disorders

Année:

2005

Langue:

english

Fichier:

PDF, 45 KB

english, 2005

43

Louise Anderson (1953–2005)

Kate Bushby, Jacques S. Beckmann, Jean-Claude Kaplan

Journal:

Neuromuscular Disorders

Année:

2005

Langue:

english

Fichier:

PDF, 58 KB

english, 2005

44

The 2011 version of the gene table of neuromuscular disorders

Jean-Claude Kaplan

Journal:

Neuromuscular Disorders

Année:

2010

Langue:

english

Fichier:

PDF, 272 KB

english, 2010

45

Genomics and medicine: an anticipation.

Jean-Claude Kaplan, Claudine Junien

Journal:

Comptes Rendus de l'Académie des Sciences - Series III - Sciences de la Vie

Année:

2000

Langue:

french

Fichier:

PDF, 101 KB

french, 2000

46

Looking under every rock: Duchenne muscular dystrophy and traditional Chinese medicine

J. Andoni Urtizberea, Qi-Shi Fan, Elizabeth Vroom, Dominique Récan, Jean-Claude Kaplan

Journal:

Neuromuscular Disorders

Année:

2003

Langue:

english

Fichier:

PDF, 53 KB

english, 2003

47

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

Norma Beatriz Romero, Dominique Récan, Odile Rigal, France Leturcq, Stéphane Llense, Jean-Claude Barbot, Nathalie Deburgrave, Marie Armelle Cheval, Françoise Deniau, Jean-Claude Kaplan

Journal:

Neuromuscular Disorders

Année:

1997

Langue:

english

Fichier:

PDF, 308 KB

english, 1997

48

Effect of N6, 2′-O-dibutyryl cyclic AMP upon the interconvertible forms of cyclic AMP phosphodiesterase from human platelets

Anne-Lise Pichard, Jean-Claude Kaplan

Journal:

Biochemical and Biophysical Research Communications

Année:

1975

Langue:

english

Fichier:

PDF, 252 KB

english, 1975

49

Titration curves of interacting cytochrome b5 and hemoglobin by isoelectric focusing-electrophoresis

Pier Giorgio Righetti, Gerard Gacon, Elisabetta Gianazza, Daniele Lostanlen, Jean-Claude Kaplan

Journal:

Biochemical and Biophysical Research Communications

Année:

1978

Langue:

english

Fichier:

PDF, 1.47 MB

english, 1978

50

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

Vincent, Nathalie, Ragot, Thierry, Gilgenkrantz, Hélè, Couton, Dominique, Chafey, Philippe, Grégoire, Anne, Briand, Pascale, Kaplan, Jean-Claude, Kahn, Axel, Perricaudet, Michel

Journal:

Nature Genetics

Année:

1993

Fichier:

PDF, 611 KB

1993