Faivre Laurence
Faivre Laurence
professeur de génétique, Université de Bourgogne
Adresse e-mail validée de chu-dijon.fr
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The revised Ghent nosology for the Marfan syndrome
BL Loeys, HC Dietz, AC Braverman, BL Callewaert, J De Backer, ...
Journal of medical genetics 47 (7), 476-485, 2010
15562010
Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers
KB Kuchenbaecker, JL Hopper, DR Barnes, KA Phillips, TM Mooij, ...
Jama 317 (23), 2402-2416, 2017
8462017
Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome
V Bonadona, B Bonaïti, S Olschwang, S Grandjouan, L Huiart, M Longy, ...
Jama 305 (22), 2304-2310, 2011
8342011
Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome
V Bonadona, B Bonaïti, S Olschwang, S Grandjouan, L Huiart, M Longy, ...
Jama 305 (22), 2304-2310, 2011
8342011
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
SE Bojesen, KA Pooley, SE Johnatty, J Beesley, K Michailidou, JP Tyrer, ...
Nature genetics 45 (4), 371-384, 2013
5022013
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study
L Faivre, G Collod-Beroud, BL Loeys, A Child, C Binquet, E Gautier, ...
The American Journal of Human Genetics 81 (3), 454-466, 2007
4422007
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study
L Faivre, G Collod-Beroud, BL Loeys, A Child, C Binquet, E Gautier, ...
The American Journal of Human Genetics 81 (3), 454-466, 2007
4422007
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
4362009
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma
C Bertolotto, F Lesueur, S Giuliano, T Strub, M De Lichy, K Bille, P Dessen, ...
Nature 480 (7375), 94-98, 2011
4232011
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11. 2 locus
S Jacquemont, A Reymond, F Zufferey, L Harewood, RG Walters, ...
Nature 478 (7367), 97-102, 2011
3962011
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy
CL Navarro, A De Sandre-Giovannoli, R Bernard, I Boccaccio, A Boyer, ...
Human molecular genetics 13 (20), 2493-2503, 2004
3782004
Mutation spectrum and splicing variants in the OPA1 gene
C Delettre, JM Griffoin, J Kaplan, H Dollfus, B Lorenz, L Faivre, G Lenaers, ...
Human genetics 109 (6), 584-591, 2001
3662001
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
GI Rice, Y del Toro Duany, EM Jenkinson, GMA Forte, BH Anderson, ...
Nature genetics 46 (5), 503-509, 2014
3632014
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux
CF Bartels, H Bükülmez, P Padayatti, DK Rhee, C van Ravenswaaij-Arts, ...
The American Journal of Human Genetics 75 (1), 27-34, 2004
3122004
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
2712011
Association of complementation group and mutation type with clinical outcome in Fanconi anemia
L Faivre, P Guardiola, C Lewis, I Dokal, W Ebell, A Zatterale, C Altay, ...
Blood, The Journal of the American Society of Hematology 96 (13), 4064-4070, 2000
2672000
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk
FJ Couch, X Wang, L McGuffog, A Lee, C Olswold, KB Kuchenbaecker, ...
PLoS Genet 9 (3), e1003212, 2013
2632013
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome
N Dagoneau, C Benoist-Lasselin, C Huber, L Faivre, A Mégarbané, ...
The American Journal of Human Genetics 75 (5), 801-806, 2004
2592004
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome
L Faivre, RJ Gorlin, MK Wirtz, M Godfrey, N Dagoneau, JR Samples, ...
Journal of Medical Genetics 40 (1), 34-36, 2003
2522003
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome
L Baala, S Romano, R Khaddour, S Saunier, UM Smith, S Audollent, ...
The American Journal of Human Genetics 80 (1), 186-194, 2007
2402007
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