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Page 1
Early Retinal Defects in Fmr1-/y Mice: Toward a Critical Role of Visual Dys-Sensitivity in the Fragile X Syndrome Phenotype?
Perche O, Felgerolle C, Ardourel M, Bazinet A, Pâris A, Rossignol R, Meyer-Dilhet G, Mausset-Bonnefont AL, Hébert B, Laurenceau D, Montécot-Dubourg C, Menuet A, Bizot JC, Pichon J, Ranchon-Cole I, Briault S. Perche O, et al. Front Cell Neurosci. 2018 Apr 6;12:96. doi: 10.3389/fncel.2018.00096. eCollection 2018. Front Cell Neurosci. 2018. PMID: 29681800 Free PMC article.
[Autism, genetics and synaptic function alterations].
Perche O, Laumonnier F, Baala L, Ardourel MY, Menuet A, Robin V, Mortaud S, Montécot-Dubourg C, Richard O, Pichon J, Briault S. Perche O, et al. Pathol Biol (Paris). 2010 Oct;58(5):381-6. doi: 10.1016/j.patbio.2009.12.005. Epub 2010 Feb 23. Pathol Biol (Paris). 2010. PMID: 20181440 Review. French.
FG syndrome: the FGS2 locus revisited.
Perche O, Laudier B, Menuet A, Odent S, Laumonnier F, Briault S. Perche O, et al. Am J Med Genet A. 2012 Jun;158A(6):1489-92. doi: 10.1002/ajmg.a.35322. Epub 2012 Apr 23. Am J Med Genet A. 2012. PMID: 22528511 No abstract available.
Dysregulation of FOXG1 pathway in a 14q12 microdeletion case.
Perche O, Haddad G, Menuet A, Callier P, Marcos M, Briault S, Laudier B. Perche O, et al. Am J Med Genet A. 2013 Dec;161A(12):3072-7. doi: 10.1002/ajmg.a.36170. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 23956198
Detection of chromosomal breakpoints in patients with developmental delay and speech disorders.
Utami KH, Hillmer AM, Aksoy I, Chew EG, Teo AS, Zhang Z, Lee CW, Chen PJ, Seng CC, Ariyaratne PN, Rouam SL, Soo LS, Yousoof S, Prokudin I, Peters G, Collins F, Wilson M, Kakakios A, Haddad G, Menuet A, Perche O, Tay SK, Sung KW, Ruan X, Ruan Y, Liu ET, Briault S, Jamieson RV, Davila S, Cacheux V. Utami KH, et al. Among authors: perche o. PLoS One. 2014 Mar 6;9(6):e90852. doi: 10.1371/journal.pone.0090852. eCollection 2014. PLoS One. 2014. PMID: 24603971 Free PMC article.
Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by a BKCa channel opener molecule.
Hébert B, Pietropaolo S, Même S, Laudier B, Laugeray A, Doisne N, Quartier A, Lefeuvre S, Got L, Cahard D, Laumonnier F, Crusio WE, Pichon J, Menuet A, Perche O, Briault S. Hébert B, et al. Among authors: perche o. Orphanet J Rare Dis. 2014 Aug 1;9:124. doi: 10.1186/s13023-014-0124-6. Orphanet J Rare Dis. 2014. PMID: 25079250 Free PMC article.
42 results