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Stanislas Lyonnet
Stanislas Lyonnet
Institut imagine
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Lamin a truncation in Hutchinson-Gilford progeria
A De Sandre-Giovannoli, R Bernard, P Cau, C Navarro, J Amiel, ...
Science 300 (5628), 2055-2055, 2003
14582003
Mutations of the RET proto-oncogene in Hirschsprung's disease
MA Edery P, Lyonnet S, Mulligan LM, Pelet A, Dow E, Abel L, Holder S, Nihoul ...
Nature 367 (Jan 27), 378-380, 1994
1081*1994
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family
Q Yi Li, RA Newbury-Ecob, JA Terrett, DI Wilson, ARJ Curtis, C Ho Yi, ...
Nature genetics 15 (1), 21-29, 1997
10081997
Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma
I Janoueix-Lerosey, D Lequin, L Brugieres, A Ribeiro, L De Pontual, ...
Nature 455 (7215), 967-970, 2008
9162008
SOX10 mutations in patients with Waardenburg-Hirschsprung disease
V Pingault, N Bondurand, K Kuhlbrodt, DE Goerich, MO Préhu, A Puliti, ...
Nature genetics 18 (2), 171-173, 1998
8931998
Hirschsprung disease, associated syndromes and genetics: a review
J Amiel, E Sproat-Emison, M Garcia-Barcelo, F Lantieri, G Burzynski, ...
Journal of medical genetics 45 (1), 1-14, 2008
8362008
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
J Amiel, B Laudier, T Attié-Bitach, HA Trang, L de Pontual, B Gener, ...
Nature genetics 33 (4), 459-461, 2003
8352003
Hirschsprung disease, associated syndromes, and genetics: a review
J Amiel, S Lyonnet
Journal of medical genetics 38 (11), 729-739, 2001
5602001
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
5031996
Mutations in STAT3 and IL12RB1 impair the development of human IL-17–producing T cells
L de Beaucoudrey, A Puel, O Filipe-Santos, A Cobat, P Ghandil, ...
The Journal of experimental medicine 205 (7), 1543-1550, 2008
4532008
miR-122, a paradigm for the role of microRNAs in the liver
M Girard, E Jacquemin, A Munnich, S Lyonnet, A Henrion-Caude
Journal of hepatology 48 (4), 648-656, 2008
4292008
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
S Benko, JA Fantes, J Amiel, DJ Kleinjan, S Thomas, J Ramsay, ...
Nature genetics 41 (3), 359-364, 2009
4032009
Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease
S Hadj-Rabia, L Baala, P Vabres, D Hamel-Teillac, E Jacquemin, M Fabre, ...
Gastroenterology 127 (5), 1386-1390, 2004
3782004
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders
ML Jacquemont, D Sanlaville, R Redon, O Raoul, V Cormier-Daire, ...
Journal of medical genetics 43 (11), 843-849, 2006
3712006
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease
T Attie, A Pelet, P Edery, C Eng, LM Mulligan, J Amiel, L Boutrand, ...
Human molecular genetics 4 (8), 1381-1386, 1995
3701995
Germline mutations of the paired–like homeobox 2B (PHOX2B) gene in neuroblastoma
D Trochet, F Bourdeaut, I Janoueix-Lerosey, A Deville, L De Pontual, ...
The American Journal of Human Genetics 74 (4), 761-764, 2004
3542004
Mutant WD-repeat protein in triple-A syndrome
A Tullio-Pelet, R Salomon, S Hadj-Rabia, C Mugnier, MH de Laet, ...
Nature genetics 26 (3), 332-335, 2000
3302000
Germline deletion of the miR-17∼ 92 cluster causes skeletal and growth defects in humans
L de Pontual, E Yao, P Callier, L Faivre, V Drouin, S Cariou, ...
Nature genetics 43 (10), 1026-1030, 2011
3252011
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome
L Baala, S Audollent, J Martinovic, C Ozilou, MC Babron, ...
The American Journal of Human Genetics 81 (1), 170-179, 2007
3102007
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases
C Cluzeau, S Hadj‐Rabia, M Jambou, S Mansour, P Guigue, S Masmoudi, ...
Human mutation 32 (1), 70-72, 2011
3032011
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