Professeur de Génétique, Faculté de Médecine D Diderot, Université Sorbonne-Paris Cité
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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
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
Specific genetic disorders and autism: clinical contribution towards their identification
D Cohen, N Pichard, S Tordjman, C Baumann, L Burglen, E Excoffier, ...
Journal of autism and developmental disorders 35 (1), 103-116, 2005
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
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
p63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand–split foot malformation suggest a genotype-phenotype correlation
H Van Bokhoven, BCJ Hamel, M Bamshad, E Sangiorgi, F Gurrieri, ...
The American Journal of Human Genetics 69 (3), 481-492, 2001
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations
I Nishino, A Spinazzola, A Papadimitriou, S Hammans, I Steiner, CD Hahn, ...
Annals of Neurology: Official Journal of the American Neurological …, 2000
Updated diagnostic criteria for CHARGE syndrome: a proposal
A Verloes
American Journal of Medical Genetics Part A 133 (3), 306-308, 2005
MECP2 is highly mutated in X-linked mental retardation
P Couvert, T Bienvenu, C Aquaviva, K Poirier, C Moraine, C Gendrot, ...
Human Molecular Genetics 10 (9), 941-946, 2001
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
CHARGE syndrome: an update
D Sanlaville, A Verloes
European Journal of Human Genetics 15 (4), 389-399, 2007
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype–phenotype correlation
E De Baere, MJ Dixon, KW Small, EW Jabs, BP Leroy, K Devriendt, ...
Human molecular genetics 10 (15), 1591-1600, 2001
WDR62 is associated with the spindle pole and is mutated in human microcephaly
AK Nicholas, M Khurshid, J Désir, OP Carvalho, JJ Cox, G Thornton, ...
Nature genetics 42 (11), 1010-1014, 2010
Aneurysms of the abdominal aorta: familial and genetic aspects in three hundred thirteen pedigrees
A Verloes, N Sakalihasan, L Koulischer, R Limet
Journal of vascular surgery 21 (4), 646-655, 1995
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
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis
S Kan, N Elanko, D Johnson, L Cornejo-Roldan, J Cook, EW Reich, ...
The American Journal of Human Genetics 70 (2), 472-486, 2002
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy
L Van Maldergem, J Magre, TE Khallouf, T Gedde-Dahl, M Delepine, ...
Journal of medical genetics 39 (10), 722-733, 2002
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome
C Nava, N Hanna, C Michot, S Pereira, N Pouvreau, T Niihori, Y Aoki, ...
Journal of medical genetics 44 (12), 763-771, 2007
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly
JD Buxbaum, G Cai, P Chaste, G Nygren, J Goldsmith, J Reichert, ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 144 …, 2007
The genetic basis of inherited anomalies of the teeth: Part 1: Clinical and molecular aspects of non-syndromic dental disorders
I Bailleul-Forestier, M Molla, A Verloes, A Berdal
European journal of medical genetics 51 (4), 273-291, 2008
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