Dominique Bonneau
Dominique Bonneau
Professeur de Génétique Médicale, Université d'Angers
Dirección de correo verificada de chu-angers.fr
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The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
L Crisponi, M Deiana, A Loi, F Chiappe, M Uda, P Amati, L Bisceglia, ...
Nature genetics 27 (2), 159-166, 2001
9502001
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
T Niihori, Y Aoki, Y Narumi, G Neri, H Cavé, A Verloes, N Okamoto, ...
Nature genetics 38 (3), 294-296, 2006
5552006
OPA1 mutations induce mitochondrial DNA instability and optic atrophy ‘plus’ phenotypes
P Amati-Bonneau, ML Valentino, P Reynier, ME Gallardo, B Bornstein, ...
Brain 131 (2), 338-351, 2008
4582008
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
4052011
X–linked spastic paraplegia and Pelizaeus–Merzbacher disease are allelic disorders at the proteolipid protein locus
P Saugier-Veber, A Munnich, D Bonneau, JM Rozet, M Le Merrer, R Gil, ...
Nature genetics 6 (3), 257, 1994
3961994
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders
CS Leblond, J Heinrich, R Delorme, C Proepper, C Betancur, G Huguet, ...
PLoS Genet 8 (2), e1002521, 2012
3672012
Mutations of the human PTEN gene
D Bonneau, M Longy
Human mutation 16 (2), 109-122, 2000
3442000
Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract
C Beaumont, P Leneuve, I Devaux, JY Scoazec, M Berthier, MN Loiseau, ...
Nature genetics 11 (4), 444-446, 1995
3431995
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 Genet 10 (9), e1004580, 2014
3382014
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
K Poirier, N Lebrun, L Broix, G Tian, Y Saillour, C Boscheron, E Parrini, ...
Nature genetics 45 (6), 639-647, 2013
3182013
Multi-system neurological disease is common in patients with OPA1 mutations
P Yu-Wai-Man, PG Griffiths, GS Gorman, CM Lourenco, AF Wright, ...
Brain 133 (3), 771-786, 2010
3162010
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome
T Hearn, GL Renforth, C Spalluto, NA Hanley, K Piper, S Brickwood, ...
Nature genetics 31 (1), 79-83, 2002
2962002
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
2942006
Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation
M Kato, S Das, K Petras, K Kitamura, K Morohashi, DN Abuelo, M Barr, ...
Human mutation 23 (2), 147-159, 2004
2922004
Positional cloning of a novel gene on chromosome 16q causing Bardet–Biedl syndrome (BBS2)
DY Nishimura, CC Searby, R Carmi, K Elbedour, L Van Maldergem, ...
Human Molecular Genetics 10 (8), 865-874, 2001
2732001
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome
C Stoetzel, J Muller, V Laurier, EE Davis, NA Zaghloul, S Vicaire, ...
The American Journal of Human Genetics 80 (1), 1-11, 2007
2612007
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
2602013
A gene predisposing to familial thyroid tumors with cell oxyphilia maps to chromosome 19p13. 2
F Canzian, P Amati, HR Harach, JL Kraimps, F Lesueur, J Barbier, ...
The American Journal of Human Genetics 63 (6), 1743-1748, 1998
2581998
Mitochondrial dynamics and disease, OPA1
A Olichon, E Guillou, C Delettre, T Landes, L Arnauné-Pelloquin, ...
Biochimica et Biophysica Acta (BBA)-Molecular Cell Research 1763 (5-6), 500-509, 2006
2212006
Clinical and genetic heterogeneity in retinitis pigmentosa
J Kaplan, D Bonneau, J Frézal, A Munnich, JL Dufier
Human genetics 85 (6), 635-642, 1990
1961990
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Artículos 1–20