scispace - formally typeset
J

Jean-Louis Mandel

Researcher at University of Strasbourg

Publications -  372
Citations -  39716

Jean-Louis Mandel is an academic researcher from University of Strasbourg. The author has contributed to research in topics: Gene & Fragile X syndrome. The author has an hindex of 101, co-authored 362 publications receiving 37522 citations. Previous affiliations of Jean-Louis Mandel include French Institute of Health and Medical Research & Collège de France.

Papers
More filters
Journal ArticleDOI

Cerberus, an Access Control Scheme for Enforcing Least Privilege in Patient Cohort Study Platforms : A Comprehensive Access Control Scheme Applied to the GENIDA Project - Study of Genetic Forms of Intellectual Disabilities and Autism Spectrum Disorders.

Pierre Parrend, +5 more
- 01 Jan 2018 - 
TL;DR: C Cerberus is proposed, a new access control scheme spanning the whole life-cycle of access right management: design, implementation, deployment and maintenance, operations, and validated specifications for CSPs are given.
Journal ArticleDOI

Hsp70 and Hsp40 chaperones do not modulate retinal phenotype in SCA7 mice.

Dominique Helmlinger, +4 more
- 31 Dec 2004 - 
TL;DR: While co-expression of HSP70 with its co-factor HDJ2 efficiently suppressed mutant ataxin-7 aggregation in transfected cells, they did not prevent either neuronal toxicity or aggregate formation in SCA7 mice.
Journal ArticleDOI

Localization by in situ hybridization of the coagulation factor IX gene and of two polymorphic DNA probes with respect to the fragile X site.

Marie Geneviève Mattei, +6 more
- 01 Jan 1985 - 
TL;DR: The coagulation factor IX gene and two other polymorphic loci corresponding to DNA probes 52 A and St 14 have been previously localized in the q27 to qter region of the human X chromosome.
Journal ArticleDOI

Fragile X mental retardation syndrome: from pathogenesis to diagnostic issues

Jean-Louis Mandel, +1 more
- 01 Jun 2004 - 
TL;DR: In the authors' opinion, testing in children should be restricted to those who show a developmental delay, cognitive deficits and/or abnormal behavior evocative of the syndrome, and a positive diagnosis should be used to improve educational strategies for the children - and not to stigmatise them.
Journal ArticleDOI

Improved DNA markers for efficient analysis of fragile X families.

Roland Heilig, +5 more
- 01 May 1988 - 
TL;DR: The characteristics of two new probes that detect BclI RFLPs useful for analysis of fragile X families and 34% of women are heterozygous both for the proximal marker DXS105 and for the distal markers DXS52 or the factor VIII gene are reported.