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1

Fragile X syndrome

Hagerman, Randi J., Berry-Kravis, Elizabeth, Hazlett, Heather Cody, Bailey, Donald B., Moine, Herve, Kooy, R. Frank, Tassone, Flora, Gantois, Ilse, Sonenberg, Nahum, Mandel, Jean Louis, Hagerman, Paul

Journal:

Nature Reviews Disease Primers

Year:

2017

Language:

english

File:

PDF, 7.44 MB

english, 2017

2

The effect of relocation after a natural disaster

Louis M. Najarian, Armen K. Goenjian, David Pelcovitz, Francine Mandel, Berj Najarian

Journal:

Journal of Traumatic Stress

Year:

2001

Language:

english

File:

PDF, 953 KB

english, 2001

3

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

4

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

5

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

6

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

7

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

8

10.1038/35088558

Chelly, Jamel, Mandel, Jean-Louis

Journal:

Nature Reviews Genetics

Year:

2001

Language:

english

File:

PDF, 345 KB

english, 2001

9

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

10

Multiple Bilateral Tonsilloliths: Case Report

Journal:

Journal of Oral and Maxillofacial Surgery

Year:

2008

Language:

english

File:

PDF, 219 KB

english, 2008

11

Plunging Ranula Following Placement of Mandibular Implants: Case Report

Journal:

Journal of Oral and Maxillofacial Surgery

Year:

2008

Language:

english

File:

PDF, 578 KB

english, 2008

12

A psychoacoustic effect upon mood and its relation to affective instability

Louis N. Gruber, David S. Janowsky, Arnold J. Mandell, S.Craig Risch, Leighton Y. Huey

Journal:

Comprehensive Psychiatry

Year:

1984

Language:

english

File:

PDF, 491 KB

english, 1984

13

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

14

Bilateral parotid swelling: A review

Louis Mandel, Farisa Surattanont

Journal:

Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology

Year:

2002

Language:

english

File:

PDF, 272 KB

english, 2002

15

Radioactive Iodine and the Salivary Glands

Mandel, Susan J., Mandel, Louis

Journal:

Year:

2003

Language:

english

File:

PDF, 428 KB

english, 2003

16

An unusual pattern of dental damage with salivary gland aplasia

Journal:

Journal of the American Dental Association

Year:

2006

Language:

english

File:

PDF, 1.14 MB

english, 2006

17

EFFECT OF VARYING DELAYS IN AUDITORY FEEDBACK ON KEY-TAPPING OF CHILDREN

RAPIN, ISABELLE, COSTA, LOUIS D., MANDEL, IRWIN J., FROMOWITZ, ARTHUR J.

Journal:

Perceptual and Motor Skills

Year:

1963

Language:

english

File:

PDF, 416 KB

english, 1963

18

Effect of Sucralose in Coffee on Plaque pH in Human Subjects

Steinberg, Louis M., Odusola, Folarin, Mandel, Irwin D.

Journal:

Caries Research

Year:

1996

File:

PDF, 2.42 MB

1996

19

TWO EXPERIMENTS IN VISUAL AND AUDITORY REACTION TIME IN CHILDREN AT A SCHOOL FOR THE DEAF

COSTA, LOUIS D., RAPIN, ISABELLE, MANDEL, IRWIN J.

Journal:

Perceptual and Motor Skills

Year:

1964

Language:

english

File:

PDF, 371 KB

english, 1964

20

The Don Juan Story: A Symposium

Bruce Cutler, Oscar Mandel, Boyd Carter, James Roberts and Louis Crompton

Journal:

Prairie Schooner

Year:

1965

Language:

english

File:

PDF, 885 KB

english, 1965

21

Simultaneous Bilateral Hypertrophies of The Parotid Gland and Masseter Muscle: Case Report

Prabhu, Rohan, Mandel, Louis

Journal:

Journal of Oral and Maxillofacial Surgery

Year:

2016

Language:

english

File:

PDF, 683 KB

english, 2016

22

Sialosis, Gout Induced or Idiopathic? Case Report

Naik, Keyur, Mandel, Louis

Journal:

Journal of Oral and Maxillofacial Surgery

Year:

2016

Language:

english

File:

PDF, 813 KB

english, 2016

23

Rare Submandibular Presentation of Pediatric Castleman Disease: Case Report

Hamilton, Jodi, Mandel, Louis

Journal:

Journal of Oral and Maxillofacial Surgery

Year:

2016

Language:

english

File:

PDF, 1.27 MB

english, 2016

24

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

25

Optimizing Travel Time to Outpatient Interventional Radiology Procedures in a Multi-Site Hospital System Using a Google Maps Application

Mandel, Jacob E., Morel-Ovalle, Louis, Boas, Franz E., Ziv, Etay, Yarmohammadi, Hooman, Deipolyi, Amy, Mohabir, Heeralall R., Erinjeri, Joseph P.

Journal:

Journal of Digital Imaging

Year:

2018

Language:

english

File:

PDF, 622 KB

english, 2018

26

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

27

[ACM Press the 3rd ACM SIGPLAN International Workshop - Phoenix, AZ, USA (2019.06.22-2019.06.22)] Proceedings of the 3rd ACM SIGPLAN International Workshop on Machine Learning and Programming Languages - MAPL 2019 - Machine learning in Python with no strings attached

Baudart, Guillaume, Hirzel, Martin, Kate, Kiran, Mandel, Louis, Shinnar, Avraham

Year:

2019

Language:

english

File:

PDF, 2.03 MB

english, 2019

28

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

29

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

30

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

31

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

32

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

33

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

34

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

35

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

36

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

37

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

38

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

39

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

40

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

41

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

42

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

43

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

44

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

45

Executable Contracts for Incremental Prototypes of Embedded Systems

Lionel Morel, Louis Mandel

Journal:

Electronic Notes in Theoretical Computer Science

Year:

2009

Language:

english

File:

PDF, 319 KB

english, 2009

46

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

47

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

48

Developmental changes in cultured neurones from chick embryo cerebral hemispheres

J. C. Louis, B. Pettmann, J. Courageot, J. F. Rumigny, P. Mandel, M. Sensenbrenner

Journal:

Experimental Brain Research

Year:

1981

Language:

english

File:

PDF, 2.89 MB

english, 1981

49

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

50

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:

Year:

1985

Language:

english

File:

PDF, 325 KB

english, 1985