Mandel, jean-Louis: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

1

Toward a physical map of the Xq28 region in man: Linking color vision, G6PD, and coagulation factor VIII genes to an X-Y homology region

Arveiler, Benoit, Vincent, Anne, Mandel, Jean-Louis

Journal:

Year:

1989

Language:

english

File:

PDF, 4.62 MB

english, 1989

2

Genes and pathways regulated by androgens in human neural cells, potential candidates for the male excess in autism spectrum disorders

Quartier, Angélique, Chatrousse, Laure, Redin, Claire, Keime, Céline, Haumesser, Nicolas, Maglott-Roth, Anne, Brino, Laurent, Le Gras, Stéphanie, Benchoua, Alexandra, Mandel, Jean-Louis, Piton, Amélie

Journal:

Biological Psychiatry

Year:

2018

Language:

english

File:

PDF, 11.91 MB

english, 2018

3

Améliorer l’homme par la génétique ?

Mandel, Jean-Louis

Journal:

Revue d'éthique et de théologie morale

Year:

2015

Language:

french

File:

PDF, 776 KB

french, 2015

4

Mutational analysis of patients with X-linked adrenoleukodystrophy

Fernando Kok, Sylvia Neumann, Claude-Olivier Sarde, Siqun Zheng, Kuei-Hua Wu, He-Ming Wei, James Bergin, Paul A. Watkins, Stephen Gould, George Sack, Hugo Moser, Jean-Louis Mandel, Kirby D. Smith

Journal:

Year:

1995

Language:

english

File:

PDF, 1.12 MB

english, 1995

5

Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates

Vincent Laugel, Mireille Cossée, Jacqueline Matis, Anne de Saint-Martin, Andoni Echaniz-Laguna, Jean-Louis Mandel, Dominique Astruc, Michel Fischbach, Jean Messer

Journal:

European Journal of Pediatrics

Year:

2008

Language:

english

File:

PDF, 137 KB

english, 2008

6

10.1038/35088558

Chelly, Jamel, Mandel, Jean-Louis

Journal:

Nature Reviews Genetics

Year:

2001

Language:

english

File:

PDF, 345 KB

english, 2001

7

Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

Mosser, Jean, Douar, Anne-Marie, Sarde, Claude-Olivier, Kioschis, Petra, Feil, Robert, Moser, Hugo, Poustka, Anne-Marie, Mandel, Jean-Louis, Aubourg, Patrick

Journal:

Year:

1993

File:

PDF, 675 KB

1993

8

Deciphering the cause of Friedreich ataxia

Michael Kœnig, Jean-Louis Mandel

Journal:

Current Opinion in Neurobiology

Year:

1997

Language:

english

File:

PDF, 638 KB

english, 1997

9

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

Year:

2018

Language:

english

File:

PDF, 3.25 MB

english, 2018

10

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

Year:

2018

Language:

english

File:

PDF, 2.72 MB

english, 2018

11

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

Year:

1996

File:

PDF, 1.70 MB

1996

12

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:

Year:

1999

Language:

english

File:

PDF, 203 KB

english, 1999

13

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:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 193 KB

english, 2000

14

FMR1 gene and fragile X syndrome

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

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 187 KB

english, 2000

15

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:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 1.89 MB

english, 1992

16

In memoriam: Isabelle Oberlé

Jean-Louis Mandel

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 246 KB

english, 1992

17

Methylation and mutation patterns in the fragile X syndrome

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

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 749 KB

english, 1992

18

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:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 505 KB

english, 1992

19

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:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 1.25 MB

english, 1994

20

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

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

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 377 KB

english, 1994

21

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

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

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 577 KB

english, 1994

22

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

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

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 126 KB

english, 2004

23

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:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 120 KB

english, 2005

24

Diagnosis of X-linked myotubular myopathy by detection of myotubularin

Jocelyn Laporte, Wolfram Kress, Jean-Louis Mandel

Journal:

Annals of Neurology

Year:

2001

Language:

english

File:

PDF, 1.01 MB

english, 2001

25

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

Year:

1997

Language:

english

File:

PDF, 873 KB

english, 1997

26

The unstable and methylatable mutations causing the fragile X syndrome

François Rousseau, Dominique Heitz, Jean-Louis Mandel

Journal:

Year:

1992

Language:

english

File:

PDF, 527 KB

english, 1992

27

Isolation of mutant mammalian cells altered in polyamine transport

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

Journal:

Journal of Cellular Physiology

Year:

1978

Language:

english

File:

PDF, 677 KB

english, 1978

28

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:

Year:

1994

Language:

english

File:

PDF, 656 KB

english, 1994

29

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:

Year:

1992

Language:

english

File:

PDF, 1.01 MB

english, 1992

30

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

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

Journal:

Year:

1988

Language:

english

File:

PDF, 724 KB

english, 1988

31

Ultrastructural localization study of two Wolfgram proteins in rat brain tissue

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

Journal:

Brain Cell Biology

Year:

1978

Language:

english

File:

PDF, 3.44 MB

english, 1978

32

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:

Year:

2001

Language:

english

File:

PDF, 460 KB

english, 2001

33

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:

Year:

2003

Language:

english

File:

PDF, 283 KB

english, 2003

34

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:

Year:

1996

Language:

english

File:

PDF, 64 KB

english, 1996

35

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

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

Journal:

Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 259 KB

english, 2006

36

X-Linked Adrenoleukodystrophy

PATRICK AUBOURG, JEAN-LOUIS MANDEL

Journal:

Annals of the New York Academy of Sciences

Year:

1996

Language:

english

File:

PDF, 1.01 MB

english, 1996

37

Insulin stimulates myogenesis in a rat myoblast line

PEARSON, MARK L., MANDEL, JEAN-LOUIS

Journal:

Year:

1974

File:

PDF, 502 KB

1974

38

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

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

Journal:

Year:

1987

File:

PDF, 420 KB

1987

39

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

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

Journal:

Year:

1991

File:

PDF, 470 KB

1991

40

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

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

Journal:

Year:

1996

File:

PDF, 1.01 MB

1996

41

Breaking the rule of three

Mandel, Jean-Louis

Journal:

Year:

1997

File:

PDF, 1.20 MB

1997

42

10.1038/7381

Yvert, Gaël, Mandel, Jean-Louis

Journal:

Nature Medicine

Year:

1999

Language:

english

File:

PDF, 74 KB

english, 1999

43

10.1038/8719

Hanauer, André, Merienne, Karine, Jacquot, Sylvie, Pannetier, Solange, Zeniou, Maria, Bankier, Agnes, Gecz, Jozef, Mandel, Jean-Louis, Mulley, John, Sassone-Corsi, Paolo

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 230 KB

english, 1999

44

JEAN B DAUSSET, 19 OCTOBER 1916–6 JUNE 2009

Mandel, Jean-Louis, Lathrop, Mark, Cann, Howard M

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 123 KB

english, 2009

45

G–quadruplex RNA structure as a signal for neurite mRNA targeting

Subramanian, Murugan, Rage, Florence, Tabet, Ricardos, Flatter, Eric, Mandel, Jean-Louis, Moine, Hervé

Journal:

Year:

2011

Language:

english

File:

PDF, 800 KB

english, 2011

46

Ataxia with isolated vitamin E deficiency is caused by mutations in the α–tocopherol transfer protein

Ouahchi, Karim, Arita, Makoto, Kayden, Herbert, Hentati, Fayçal, Hamida, Mongi Ben, Sokol, Ronald, Arai, Hiroyuki, Inoue, Keizo, Mandel, Jean-Louis, Koenig, Michel

Journal:

Nature Genetics

Year:

1995

File:

PDF, 601 KB

1995

47

Frataxin fracas

Cossée, Mireille, Campuzano, Victoria, Koutnikova, Hana, Fischbeck, Kurt, Mandel, Jean-Louis, Koenig, Michel, Bidichandani, Sanjay I., Patel, Pragna I., Moltè, Maria Dolores, Cañizares, Joaquin

Journal:

Nature Genetics

Year:

1997

File:

PDF, 280 KB

1997

48

Origin of the expansion mutation in myotonic dystrophy

Imbert, Georges, Kretz, Christine, Johnson, Keith, Mandel, Jean-Louis

Journal:

Nature Genetics

Year:

1993

File:

PDF, 506 KB

1993

49

Questions of expansion

Mandel, Jean-Louis

Journal:

Nature Genetics

Year:

1993

File:

PDF, 227 KB

1993

50

Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form

Trottier, Yvon, Devys, Didier, Imbert, Georges, Saudou, Frédéric, An, Isabelle, Lutz, Yves, Weber, Chantal, Agid, Yves, Hirsch, Etienne C., Mandel, Jean-Louis

Journal:

Nature Genetics

Year:

1995

File:

PDF, 1018 KB

1995