jean louis mandel

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laporte jocelynIGBMC (Inserm, Cnrs, Strasbourg University)E-mailová adresa ověřena na: igbmc.fr
Francois RousseauProfesseur, Faculté de médecine, Université LavalE-mailová adresa ověřena na: fmed.ulaval.ca
Amelie PITONMCU-PH Lab of Genetic diagnosis CHU Strasbourg, Researcher at IGBMCE-mailová adresa ověřena na: igbmc.fr
Durr AlexandraICME-mailová adresa ověřena na: upmc.fr
Jean MullerAssociate Professor of Genetics, Strasbourg University, Inserm, UMR_S 1112E-mailová adresa ověřena na: unistra.fr
Robert FeilInstitute of Molecular Genetics of Montpellier-CNRS & University of MontpellierE-mailová adresa ověřena na: igmm.cnrs.fr
Hentati FayçalMDE-mailová adresa ověřena na: rns.tn
Claire RedinMedigenome, Swiss Institute of Genomic Medicine, Geneva, SwitzerlandE-mailová adresa ověřena na: medigenome.ch
Faivre Laurenceprofesseur de génétique, Université de BourgogneE-mailová adresa ověřena na: chu-dijon.fr
Giorgio SirugoUniversity of Pennsylvania, Perelman School of Medicine, Philadelphia, USAE-mailová adresa ověřena na: pennmedicine.upenn.edu
Ricardo Fujita, Ph.D.Centro de Genética y Biología Molecular, Facultad de Medicina, Universidad de San Martin de PorresE-mailová adresa ověřena na: usmp.pe
Anthony P MonacoPresident, Tufts UniversityE-mailová adresa ověřena na: tufts.edu
Dominique HelmlingerGroup Leader, CRBM, University of MontpellierE-mailová adresa ověřena na: crbm.cnrs.fr
Clotilde Lagier-TourenneMassachusetts General Hospital and Harvard Medical SchoolE-mailová adresa ověřena na: mgh.harvard.edu
Frank GannonEMBL Galway Madison Herston Leicester StrasbourgE-mailová adresa ověřena na: qimr.edu.au
Stephan KempAmsterdam University Medical Centers, the NetherlandsE-mailová adresa ověřena na: amsterdamumc.nl
Marten HofkerProfessor of Molecular Genetics, UMCG, Groningen University, The NetherlandsE-mailová adresa ověřena na: umcg.nl
Charles SchwartzDirector of Research, Greenwood Genetic CenterE-mailová adresa ověřena na: ggc.org
edouard w khandjianprofesseur université lavalE-mailová adresa ověřena na: crulrg.ulaval.ca
Sergio CocozzaProfessor of Medical Genetics, University of Naples (Italy)E-mailová adresa ověřena na: unina.it

Sledovat

jean louis mandel

prof. Collège de france (chaire génétique humaine), responsable labo. diagnostic génét. CHU

E-mailová adresa ověřena na: igbmc.fr

génétique humaine maladies monogéniques diagnostic génétique retard mental autisme


Název Seřadit podle citací Seřadit podle roku Seřadit podle názvu	Citace Citace	Rok
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion V Campuzano, L Montermini, MD Molto, L Pianese, M Cossée, ... Science 271 (5254), 1423-1427, 1996	3331	1996
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome I Oberle, F Rousseau, D Heitz, C Kretz, D Devys, A Hanauer, J Boue, ... Science 252 (5009), 1097-1102, 1991	1835	1991
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters J Mosser, AM Douar, CO Sarde, P Kioschis, R Feil, H Moser, AM Poustka, ... Nature 361 (6414), 726-730, 1993	1472	1993
Clinical and genetic abnormalities in patients with Friedreich's ataxia A Dürr, M Cossee, Y Agid, V Campuzano, C Mignard, C Penet, JL Mandel, ... New England Journal of Medicine 335 (16), 1169-1175, 1996	1276	1996
Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3 HL Paulson, MK Perez, Y Trottier, JQ Trojanowski, SH Subramony, ... Neuron 19 (2), 333-344, 1997	1038	1997
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats G Imbert, F Saudou, G Yvert, D Devys, Y Trottier, JM Garnier, C Weber, ... Nature genetics 14 (3), 285-291, 1996	1029	1996
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion G David, N Abbas, G Stevanin, A Dürr, G Yvert, G Cancel, C Weber, ... Nature genetics 17 (1), 65-70, 1997	973	1997
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes V Campuzano, L Montermini, Y Lutz, L Cova, C Hindelang, S Jiralerspong, ... Human molecular genetics 6 (11), 1771-1780, 1997	942	1997
The FMR–1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation D Devys, Y Lutz, N Rouyer, JP Bellocq, JL Mandel Nature genetics 4 (4), 335-340, 1993	940	1993
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias Y Trottier, Y Lutz, G Stevanin, G Imbert, D Devys, G Cancel, F Saudou, ... Nature 378 (6555), 403-406, 1995	789	1995
Fragile X syndrome RJ Hagerman, E Berry-Kravis, HC Hazlett, DB Bailey, H Moine, RF Kooy, ... Nature reviews Disease primers 3 (1), 1-19, 2017	787	2017
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation F Rousseau, D Heitz, V Biancalana, S Blumenfeld, C Kretz, J Boué, ... New England Journal of Medicine 325 (24), 1673-1681, 1991	757	1991
A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast J Laporte, LJ Hu, C Kretz, JL Mandel, P Kioschis, JF Coy, SM Klauck, ... Nature genetics 13 (2), 175-182, 1996	722	1996
Ataxia with isolated vitamin E deficiency is caused by mutations in the α–tocopherol transfer protein K Ouahchi, M Arita, H Kayden, F Hentati, MB Hamida, R Sokol, H Arai, ... Nature genetics 9 (2), 141-145, 1995	713	1995
A new highly penetrant form of obesity due to deletions on chromosome 16p11. 2 RG Walters, S Jacquemont, A Valsesia, AJ De Smith, D Martinet, ... Nature 463 (7281), 671-675, 2010	630	2010
α-Amanitin: A specific inhibitor of one of two DNA-dependent RNA polymerase activities from calf thymus PC C. Kedinger, M. Gniazdowski, JL Mandel., F Biochemical and biophysical research communications, 1970	595	1970
The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif C Schaeffer, B Bardoni, JL Mandel, B Ehresmann, C Ehresmann, H Moine The EMBO journal, 2001	572	2001
Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form Y Trottier, D Devys, G Imbert, F Saudou, I An, Y Lutz, C Weber, Y Agid, ... Nature genetics 10 (1), 104-110, 1995	569	1995
Ovalbumin gene is split in chicken DNA R Breathnach, JL Mandel, P Chambon Nature 270 (5635), 314-319, 1977	559	1977
Proteases acting on mutant huntingtin generate cleaved products that differentially build up cytoplasmic and nuclear inclusions A Lunkes, KS Lindenberg, L Ben-Haı̈em, C Weber, D Devys, ... Molecular cell 10 (2), 259-269, 2002	519	2002

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