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sylvie odent
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Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation
DJ Marsh, V Coulon, KL Lunetta, P Rocca-Serra, PLM Dahia, Z Zheng, ...
Human molecular genetics 7 (3), 507-515, 1998
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation
A Guilmatre, C Dubourg, AL Mosca, S Legallic, A Goldenberg, ...
Archives of general psychiatry 66 (9), 947-956, 2009
C Dubourg, C Bendavid, L Pasquier, C Henry, S Odent, V David
Orphanet journal of rare diseases 2 (1), 1-14, 2007
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans
SP Robertson, SRF Twigg, AJ Sutherland-Smith, V Biancalana, RJ Gorlin, ...
Nature genetics 33 (4), 487-491, 2003
Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria
XH Jaglin, K Poirier, Y Saillour, E Buhler, G Tian, N Bahi-Buisson, ...
Nature genetics 41 (6), 746-752, 2009
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome
V Bubien, F Bonnet, V Brouste, S Hoppe, E Barouk-Simonet, A David, ...
Journal of medical genetics 50 (4), 255-263, 2013
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
K Pelin, P Hilpelä, K Donner, C Sewry, PA Akkari, SD Wilton, ...
Proceedings of the National Academy of Sciences 96 (5), 2305-2310, 1999
Clinical features and prognostic factors of listeriosis: the MONALISA national prospective cohort study
C Charlier, É Perrodeau, A Leclercq, B Cazenave, B Pilmis, B Henry, ...
The Lancet Infectious Diseases 17 (5), 510-519, 2017
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
C Stoetzel, V Laurier, EE Davis, J Muller, S Rix, JL Badano, CC Leitch, ...
Nature genetics 38 (5), 521-524, 2006
Comparison of Clinical Presentations and Outcomes Between Patients With TGFBR2 and FBN1 Mutations in Marfan Syndrome and Related Disorders
D Attias, C Stheneur, C Roy, G Collod-Béroud, D Detaint, L Faivre, ...
Circulation 120 (25), 2541-2549, 2009
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)
K Poirier, DA Keays, F Francis, Y Saillour, N Bahi, S Manouvrier, ...
Human mutation 28 (11), 1055-1064, 2007
A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1
J Kaplan, S Gerber, D Larget-Piet, JM Rozet, H Dollfus, JL Dufier, S Odent, ...
Nature genetics 5 (3), 308-311, 1993
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome
V Laugel, C Dalloz, M Durand, F Sauvanaud, U Kristensen, MC Vincent, ...
Human mutation 31 (2), 113-126, 2010
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias
C Le Goff, C Mahaut, LW Wang, S Allali, A Abhyankar, S Jensen, ...
The American Journal of Human Genetics 89 (1), 7-14, 2011
Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination
LY Brown, S Odent, V David, M Blayau, C Dubourg, C Apacik, ...
Human molecular genetics 10 (8), 791-796, 2001
Marfan Sartan: a randomized, double-blind, placebo-controlled trial
O Milleron, F Arnoult, J Ropers, P Aegerter, D Detaint, G Delorme, D Attias, ...
European heart journal 36 (32), 2160-2166, 2015
OPA1 R445H mutation in optic atrophy associated with sensorineural deafness
P Amati‐Bonneau, A Guichet, A Olichon, A Chevrollier, F Viala, S Miot, ...
Annals of Neurology: Official Journal of the American Neurological …, 2005
Spectrum of NSD1 mutations in Sotos and Weaver syndromes
M Rio, L Clech, J Amiel, L Faivre, S Lyonnet, M Le Merrer, S Odent, ...
Journal of medical genetics 40 (6), 436-440, 2003
PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy
C Thauvin-Robinet, M Auclair, L Duplomb, M Caron-Debarle, M Avila, ...
The American Journal of Human Genetics 93 (1), 141-149, 2013
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency
M Chol, S Lebon, P Benit, D Chretien, P De Lonlay, A Goldenberg, ...
Journal of medical genetics 40 (3), 188-191, 2003
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