|X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family|
F Laumonnier, F Bonnet-Brilhault, M Gomot, R Blanc, A David, ...
The American Journal of Human Genetics 74 (3), 552-557, 2004
|Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation|
P Billuart, T Bienvenu, N Ronce, V Des Portes, MC Vinet, R Zemni, ...
Nature 392 (6679), 923-926, 1998
|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
|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
|Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency|
F Laumonnier, N Ronce, BCJ Hamel, P Thomas, J Lespinasse, ...
The American Journal of Human Genetics 71 (6), 1450-1455, 2002
|Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men|
J Gekas, F Thepot, C Turleau, JP Siffroi, JP Dadoune, S Briault, M Rio, ...
Human Reproduction 16 (1), 82-90, 2001
|Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation|
F Molinari, M Rio, V Meskenaite, F Encha-Razavi, J Augé, D Bacq, ...
Science 298 (5599), 1779-1781, 2002
|Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate|
F Laumonnier, S Holbert, N Ronce, F Faravelli, S Lenzner, CE Schwartz, ...
Journal of medical genetics 42 (10), 780-786, 2005
|Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis|
L Baala, S Briault, HC Etchevers, F Laumonnier, A Natiq, J Amiel, ...
Nature genetics 39 (4), 454-456, 2007
|The original Lujan syndrome family has a novel missense mutation (p. N1007S) in the MED12 gene|
CE Schwartz, PS Tarpey, HA Lubs, A Verloes, MM May, H Risheg, ...
Journal of medical genetics 44 (7), 472-477, 2007
|Mutations in ABHD12 cause the neurodegenerative disease PHARC: an inborn error of endocannabinoid metabolism|
T Fiskerstrand, DHB Brahim, S Johansson, A M'zahem, BI Haukanes, ...
The American Journal of Human Genetics 87 (3), 410-417, 2010
|Association of a Functional Deficit of the BK Ca Channel, a Synaptic Regulator of Neuronal Excitability, With Autism and Mental Retardation|
F Laumonnier, S Roger, P Guérin, F Molinari, R M’rad, D Cahard, ...
American Journal of Psychiatry 163 (9), 1622-1629, 2006
|Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations|
A Muchir, J Medioni, M Laluc, C Massart, T Arimura, AJVD Kooi, ...
Muscle & nerve 30 (4), 444-450, 2004
|Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism|
F Laumonnier, C Shoubridge, C Antar, LS Nguyen, H Van Esch, ...
Molecular psychiatry 15 (7), 767-776, 2010
|Screening of the 1 Mb SOX9 5′ control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal|
R Pop, C Conz, KS Lindenberg, S Blesson, B Schmalenberger, S Briault, ...
Journal of medical genetics 41 (4), e47-e47, 2004
|The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients|
C Leroy, E Landais, S Briault, A David, O Tassy, N Gruchy, B Delobel, ...
European Journal of Human Genetics 21 (6), 602-612, 2013
|Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin‐1 gene|
V Portes, N Boddaert, S Sacco, S Briault, K Maincent, N Bahi, M Gomot, ...
American Journal of Medical Genetics Part A 124 (4), 364-371, 2004
|High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation|
JA Veltman, HG Yntema, D Lugtenberg, H Arts, S Briault, E Huys, ...
Journal of medical genetics 41 (6), 425-432, 2004
|Autism and nonsyndromic mental retardation associated with a de novo mutation in the NLGN4X gene promoter causing an increased expression level|
H Daoud, F Bonnet-Brilhault, S Védrine, MV Demattéi, P Vourc'h, N Bayou, ...
Biological psychiatry 66 (10), 906-910, 2009
|A gene for FG syndrome maps in the Xq12‐q21. 31 region|
S Briault, R Hill, A Shrimpton, D Zhu, M Till, N Ronce, ...
American journal of medical genetics 73 (1), 87-90, 1997