Jean Louis Mandel : rechercher sur Z-Library

Michael Kœnig, Jean-Louis Mandel

Année:

1993

Fichier:

PDF, 675 KB

1993

Deciphering the cause of Friedreich ataxia

Journal:

Current Opinion in Neurobiology

Année:

1997

Langue:

english

Fichier:

PDF, 638 KB

english, 1997

Cerberus, an Access Control Scheme for Enforcing Least Privilege in Patient Cohort Study Platforms

Parrend, Pierre, Mazzucotelli, Timothée, Colin, Florent, Collet, Pierre, Mandel, Jean-Louis

Journal:

Journal of Medical Systems

Année:

2018

Langue:

english

Fichier:

PDF, 3.25 MB

english, 2018

Clinical and functional characterization of recurrent missense variants implicated in THOC6 -related intellectual disability

Francesca, Mattioli, Bertrand, Isidor, Omar, Abdul-Rahman, Gunter, Andrew, Lijia, Huang, Kumar, Raman, Chandree, Beaulieu, Gecz, Jozef, Micheil, Innes, Jean-Louis, Mandel, Amélie, Piton

Journal:

Human Molecular Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 2.72 MB

english, 2018

Seventh international workshop on the fragile X and X-linked mental retardation

Tranebjærg, Lisbeth, Lubs, Herbert A., Borghgraef, Martine, Brown, W. Ted, Fisch, Gene, Fryns, Jean-Pierre, Hagerman, Randi, Jacobs, Patricia A., Mandel, Jean-Louis, Mulley, John, Oostra, Ben, Schwart

Journal:

American Journal of Medical Genetics

Année:

1996

Fichier:

PDF, 1.70 MB

1996

Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy

Anna Buj-Bello, Valérie Biancalana, Céline Moutou, Jocelyn Laporte, Jean-Louis Mandel

Journal:

Human Mutation

Année:

1999

Langue:

english

Fichier:

PDF, 203 KB

english, 1999

9th International workshop on Fragile X syndrome and X-linked mental retardation

Jean-Pierre Fryns, Martine Borghgraef, Ted W. Brown, Jamel Chelly, Gene S. Fisch, Ben Hamel, André Hanauer, Didier Lacombe, Ligun Luo, James N. MacPherson, Jean-Louis Mandel, Claude Moraine, John Mull

Journal:

Barbara Bardoni, Jean-Louis Mandel, Gene S. Fisch

Année:

2000

Langue:

english

Fichier:

PDF, 193 KB

english, 2000

FMR1 gene and fragile X syndrome

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 187 KB

english, 2000

Fifth international workshop on the fragile X and X-linked mental retardation

Dr. Jean-Louis Mandel, Randi Hagerman, Ursula Froster, W. Ted Brown, Edmund C. Jenkins, Patricia Jacobs, Gillian Turner, Herbert Lubs, Giovanni Neri

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 1.89 MB

english, 1992

In memoriam: Isabelle Oberlé

Jean-Louis Mandel

Journal:

Helena Malmgren, Marie-Louise Steén-Bondeson, Karl-Henrik Gustavson, Eva Seémanova, Gösta Holmgren, Isabelle Oberlé, Jean-Louis Mandel, Ulf Pettersson, Niklas Dahl

Année:

1992

Langue:

english

Fichier:

PDF, 246 KB

english, 1992

Methylation and mutation patterns in the fragile X syndrome

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 749 KB

english, 1992

Direct DNA analysis of fragile X syndrome in Spanish pedigrees

Isabel Tejada, Etienne Mornet, Valérie Biancalana, Isabelle Oberlé, Joelle Boué, Jean-Louis Mandel, André Boué

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 505 KB

english, 1992

Sixth international workshop on the fragile X and X-linked mental retardation

Grant R. Sutherland, W. Ted Brown, Randi Hagerman, Ed Jenkins, Herbert Lubs, Jean-Louis Mandel, David Nelson, Giovanni Neri, Michael W. Partington, Robert I. Richards, Roger Stevenson, Gillian Turner

Journal:

Yvon Trottier, Georges Imbert, Annemarie Poustka, Jean-Pierre Fryns, Jean-Louis Mandel

Année:

1994

Langue:

english

Fichier:

PDF, 1.25 MB

english, 1994

Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region

Journal:

Ling-Jia Hu, Sandra Blumenfeld-Heyberger, André Hanauer, Jean Weissenbach, Jean-Louis Mandel

Année:

1994

Langue:

english

Fichier:

PDF, 377 KB

english, 1994

Non-specific X-linked mental retardation: Linkage analysis in MRX2 and MRX4 families revisited

Journal:

Valérie Biancalana, Chérif Beldjord, Agnès Taillandier, Sylvie Szpiro-Tapia, Véronica Cusin, Fabienne Gerson, Christophe Philippe, Jean-Louis Mandel

Année:

1994

Langue:

english

Fichier:

PDF, 577 KB

english, 1994

Five years of molecular diagnosis of Fragile X syndrome (1997–2001): A collaborative study reporting 95% of the activity in France

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 126 KB

english, 2004

Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy

Edmar Zanoteli, Jocelyn Laporte, José C.C. Rocha, Christine Kretz, Acary S.B. Oliveira, Jean-Louis Mandel, Ana B.A. Perez, Alberto A. Gabbai, Anna Buj-Bello

Journal:

Jocelyn Laporte, Wolfram Kress, Jean-Louis Mandel

Année:

2005

Langue:

english

Fichier:

PDF, 120 KB

english, 2005

Diagnosis of X-linked myotubular myopathy by detection of myotubularin

Journal:

Annals of Neurology

Année:

2001

Langue:

english

Fichier:

PDF, 1.01 MB

english, 2001

Differential distribution of the normal and mutated forms of huntingtin in the human brain

Isabelle Gourfinkel-An, Géraldine Cancel, Yvon Trottier, Didier Devys, Laszlo Tora, Yves Lutz, Georges Imbert, Frédéric Saudou, Giovanni Stevanin, Yves Agid, Alexis Brice, Jean-Louis Mandel, Dr. Etien

Journal:

Annals of Neurology

Année:

1997

Langue:

english

Fichier:

PDF, 873 KB

english, 1997

The unstable and methylatable mutations causing the fragile X syndrome

François Rousseau, Dominique Heitz, Jean-Louis Mandel

Journal:

Human Mutation

Année:

1992

Langue:

english

Fichier:

PDF, 527 KB

english, 1992

Isolation of mutant mammalian cells altered in polyamine transport

Dr. Jean-Louis Mandel, Dr. Wayne F. Flintoff

Journal:

Journal of Cellular Physiology

Année:

1978

Langue:

english

Fichier:

PDF, 677 KB

english, 1978

Hypomagensemia with secondary hypocalcemia in a female with balanced X;9 translocation: mapping of the Xp22 chromosome breakpoint

Michèle Chery, Valérie Biancalana, Christophe Philippe, Georges Malpuech, Hélène Carla, Simone Gilgenkrantz, Jean-Louis Mandel, André Hanauer

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 656 KB

english, 1994

A 530kb YAC contig tightly linked to the Friedreich ataxia locus contains five CpG clusters and a new highly polymorphic microsatellite

Ricardo Fujita, Giorgio Sirugo, Franck Duclos, Hadi Abderrahim, Denis Paslier, Daniel Cohen, Bernard H. Brownstein, David Schlessinger, Jean-Louis Mandel, Michel Koenig

Journal:

Jean-Paul Moisan, Marie-Geneviève Mattei, Jean-Louis Mandel

Année:

1992

Langue:

english

Fichier:

PDF, 1.01 MB

english, 1992

Chromosome localization and polymorphism of an oestrogen-inducible gene specifically expressed in some breast cancers

Journal:

Année:

1988

Langue:

english

Fichier:

PDF, 724 KB

english, 1988

First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe

Joëlle Boué, Isabelle Oberle, Roland Heilig, Jean Louis Mandel, Ann Moser, H. Moser, J. W. Larsen, Y. Dumez, A. Boué

Journal:

Guy Roussel, Jean-Pierre Delaunoy, Paul Mandel, Jean-Louis Nussbaum

Année:

1985

Langue:

english

Fichier:

PDF, 325 KB

english, 1985

Effect of ethanol on superoxide dismutase activity in cultured neural cells

Marc Ledig, Jean Rémy M'Paria, Jean-Claude Louis, Rainer Fried, Paul Mandel

Journal:

Neurochemical Research

Année:

1980

Langue:

english

Fichier:

PDF, 844 KB

english, 1980

Ultrastructural localization study of two Wolfgram proteins in rat brain tissue

Journal:

Brain Cell Biology

Année:

1978

Langue:

english

Fichier:

PDF, 3.44 MB

english, 1978

SPG11 spastic paraplegia

Mathieu Anheim, Clotilde Lagier-Tourenne, Giovanni Stevanin, Marie Fleury, Alexandra Durr, Izzie Jacques Namer, Paola Denora, Alexis Brice, Jean Louis Mandel, Michel Koenig, Christine Tranchant

Journal:

Journal of Neurology

Année:

2009

Langue:

english

Fichier:

PDF, 366 KB

english, 2009

Expression and distribution of a vacuolar aquaporin in young and mature leaf tissues ofBrassica napusin relation to water fluxes

Nathalie Frangne, Masayoshi Maeshima, Anton R. Schäffner, Therese Mandel, Enrico Martinoia, Jean-Louis Bonnemain

Journal:

Planta

Année:

2001

Langue:

english

Fichier:

PDF, 460 KB

english, 2001

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype

Valérie Biancalana, Olivier Caron, Sabina Gallati, Frank Baas, Wolfram Kress, Giuseppe Novelli, Maria D'Apice, Clotilde Lagier-Tourenne, Anna Buj-Bello, Norma B. Romero, Jean-Louis Mandel

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 283 KB

english, 2003

X-linked myotubular myopathy: refinement of the gene to a 280-kb region with new and highly informative microsatellite markers

Ling-Jia Hu, Jocelyn Laporte, Petra Kioschis, Sandra Heyberger, Christine Kretz, Annemarie Poustka, Jean-Louis Mandel, N. Dahl

Journal:

Corinne Stoetzel, Virginie Laurier, Laurence Faivre, André Mégarbané, Fabienne Perrin-Schmitt, Alain Verloes, Dominique Bonneau, Jean-Louis Mandel, Mireille Cossee, Hélène Dollfus

Année:

1996

Langue:

english

Fichier:

PDF, 64 KB

english, 1996

BBS8 is rarely mutated in a cohort of 128 Bardet–Biedl syndrome families

Journal:

Journal of Human Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 259 KB

english, 2006

X-Linked Adrenoleukodystrophy

PATRICK AUBOURG, JEAN-LOUIS MANDEL

Journal:

Annals of the New York Academy of Sciences

Année:

1996

Langue:

english

Fichier:

PDF, 1.01 MB

english, 1996

Insulin stimulates myogenesis in a rat myoblast line

PEARSON, MARK L., MANDEL, JEAN-LOUIS

Journal:

Heilig, Roland, Lemaire, Catherine, Mandel, Jean-Louis, Dandolo, Luisa, Amar, Laurence, Avner, Philip

Année:

1974

Fichier:

PDF, 502 KB

1974

Localization of the region homologous to the Duchenne muscular dystrophy locus on the mouse X chromosome

Journal:

Vincent, Anne, Hertz, Dominique, Petit, Christine, Kretz, Christine, Oberlé, Isabelle, Mandel, Jean-Louis

Année:

1987

Fichier:

PDF, 420 KB

1987

Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis

Journal:

Pannetier, Solange, Zackai, Elaine, Young, Ian, Mandel, Jean-Louis, Sassone-Corsi, Paolo, Hanauer, André, Trivier, Elisabeth, De Cesare, Dario, Jacquot, Sylvie

Année:

1991

Fichier:

PDF, 470 KB

1991

Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome

Journal:

Année:

1996

Fichier:

PDF, 1.01 MB

1996

Breaking the rule of three

Mandel, Jean-Louis

Journal: