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Patrick Edery
Patrick Edery
Hospices Civils de Lyon et Université Claude Bernard Lyon 1
Adresse e-mail validée de chu-lyon.fr
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Mutations of the RET proto-oncogene in Hirschsprung's disease
P Edery, S Lyonnet, LM Mulligan, A Pelet, E Dow, L Abel, S Holder, ...
Nature 367 (6461), 378-380, 1994
9061994
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
CS Leblond, C Nava, A Polge, J Gauthier, G Huguet, S Lumbroso, ...
PLoS genetics 10 (9), e1004580, 2014
6182014
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
P Edery, T Attie, J Amiel, A Pelet, C Eng, RMW Hofstra, H Martelli, ...
Nature genetics 12 (4), 442-444, 1996
5251996
Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency
A Rötig, EL Appelkvist, V Geromel, D Chretien, N Kadhom, P Edery, ...
The Lancet 356 (9227), 391-395, 2000
4222000
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
3932013
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease
T Attié, A Pelet, P Edery, C Eng, LM Mulligan, J Amiel, L Boutrand, ...
Human molecular genetics 4 (8), 1381-1386, 1995
3881995
New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes
C Dodé, N Le Dû, L Cuisset, F Letourneur, JM Berthelot, G Vaudour, ...
The American Journal of Human Genetics 70 (6), 1498-1506, 2002
3652002
Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease
T Attié, M Till, A Pelet, J Amiel, P Edery, L Boutrand, A Munnich, S Lyonnet
Human Molecular Genetics 4 (12), 2407-2409, 1995
3251995
The RET proto‐oncogene induces apoptosis: a novel mechanism for Hirschsprung disease
MC Bordeaux, C Forcet, L Granger, V Corset, C Bidaud, M Billaud, ...
The EMBO journal, 2000
3012000
Heterozygous Endothelin Receptor B (EDNRBMutations in Isolated Hirschsprung Disease
J Amiel, T Attié, D Jan, A Pelet, P Edery, C Bidaud, D Lacombe, P Tam, ...
Human molecular genetics 5 (3), 355-357, 1996
2961996
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
C Redin, B Gérard, J Lauer, Y Herenger, J Muller, A Quartier, ...
Journal of medical genetics 51 (11), 724-736, 2014
2902014
Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA
P Edery, C Marcaillou, M Sahbatou, A Labalme, J Chastang, R Touraine, ...
Science 332 (6026), 240-243, 2011
2412011
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
2392010
Epileptic encephalopathies of the Landau‐Kleffner and continuous spike and waves during slow‐wave sleep types: Genomic dissection makes the link with autism
G Lesca, G Rudolf, A Labalme, E Hirsch, A Arzimanoglou, P Genton, ...
Epilepsia 53 (9), 1526-1538, 2012
2012012
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients
M Vincent, D Geneviève, A Ostertag, S Marlin, D Lacombe, ...
Genetics in Medicine 18 (1), 49-56, 2016
1762016
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
1762003
GRIN2A-related disorders: genotype and functional consequence predict phenotype
V Strehlow, HO Heyne, DRM Vlaskamp, KFM Marwick, G Rudolf, ...
Brain 142 (1), 80-92, 2019
1742019
Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases
C Schluth-Bolard, B Delobel, D Sanlaville, O Boute, JM Cuisset, S Sukno, ...
European journal of medical genetics 52 (5), 291-296, 2009
1502009
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11. 23-q21. 11
CR Marshall, EJ Young, AM Pani, ML Freckmann, Y Lacassie, C Howald, ...
The American Journal of Human Genetics 83 (1), 106-111, 2008
1442008
Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.
A Pelet, O Geneste, P Edery, A Pasini, S Chappuis, T Atti, A Munnich, ...
The Journal of clinical investigation 101 (6), 1415-1423, 1998
1301998
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