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Page 1
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
Chaudhry A, Noor A, Degagne B, Baker K, Bok LA, Brady AF, Chitayat D, Chung BH, Cytrynbaum C, Dyment D, Filges I, Helm B, Hutchison HT, Jeng LJ, Laumonnier F, Marshall CR, Menzel M, Parkash S, Parker MJ; DDD Study; Raymond LF, Rideout AL, Roberts W, Rupps R, Schanze I, Schrander-Stumpel CT, Speevak MD, Stavropoulos DJ, Stevens SJ, Thomas ER, Toutain A, Vergano S, Weksberg R, Scherer SW, Vincent JB, Carter MT. Chaudhry A, et al. Among authors: laumonnier f. Clin Genet. 2015 Sep;88(3):224-33. doi: 10.1111/cge.12482. Epub 2014 Oct 14. Clin Genet. 2015. PMID: 25131214
Xq27 FRAXA locus is a strong candidate for dyslexia: evidence from a genome-wide scan in French families.
Huc-Chabrolle M, Charon C, Guilmatre A, Vourc'h P, Tripi G, Barthez MA, Sizaret E, Thepault RA, Le Gallic S, Hager J, Toutain A, Raynaud M, Andres C, Campion D, Laumonnier F, Bonnet-Brilhault F. Huc-Chabrolle M, et al. Among authors: laumonnier f. Behav Genet. 2013 Mar;43(2):132-40. doi: 10.1007/s10519-012-9575-5. Epub 2013 Jan 11. Behav Genet. 2013. PMID: 23307483 Free article.
Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.
Iqbal Z, Willemsen MH, Papon MA, Musante L, Benevento M, Hu H, Venselaar H, Wissink-Lindhout WM, Vulto-van Silfhout AT, Vissers LE, de Brouwer AP, Marouillat S, Wienker TF, Ropers HH, Kahrizi K, Nadif Kasri N, Najmabadi H, Laumonnier F, Kleefstra T, van Bokhoven H. Iqbal Z, et al. Among authors: laumonnier f. Am J Hum Genet. 2015 Mar 5;96(3):386-96. doi: 10.1016/j.ajhg.2015.01.010. Epub 2015 Feb 19. Am J Hum Genet. 2015. PMID: 25704603 Free PMC article.
GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disability.
Bonnet-Brilhault F, Alirol S, Blanc R, Bazaud S, Marouillat S, Thépault RA, Andres CR, Lemonnier É, Barthélémy C, Raynaud M, Toutain A, Gomot M, Laumonnier F. Bonnet-Brilhault F, et al. Among authors: laumonnier f. Mol Psychiatry. 2016 Mar;21(3):411-8. doi: 10.1038/mp.2015.75. Epub 2015 Jun 9. Mol Psychiatry. 2016. PMID: 26055424
Mutation screening of the ubiquitin ligase gene RNF135 in French patients with autism.
Tastet J, Decalonne L, Marouillat S, Malvy J, Thépault RA, Toutain A, Paubel A, Tabagh R, Bénédetti H, Laumonnier F, Barthélémy C, Bonnet-Brilhault F, Andres CR, Vourc'h P. Tastet J, et al. Among authors: laumonnier f. Psychiatr Genet. 2015 Dec;25(6):263-7. doi: 10.1097/YPG.0000000000000100. Psychiatr Genet. 2015. PMID: 26368817
Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse.
Ung DC, Iacono G, Méziane H, Blanchard E, Papon MA, Selten M, van Rhijn JR, Montjean R, Rucci J, Martin S, Fleet A, Birling MC, Marouillat S, Roepman R, Selloum M, Lux A, Thépault RA, Hamel P, Mittal K, Vincent JB, Dorseuil O, Stunnenberg HG, Billuart P, Nadif Kasri N, Hérault Y, Laumonnier F. Ung DC, et al. Among authors: laumonnier f. Mol Psychiatry. 2018 May;23(5):1356-1367. doi: 10.1038/mp.2017.39. Epub 2017 Apr 18. Mol Psychiatry. 2018. PMID: 28416808 Free PMC article.
LIMK2-1 is a Hominidae-Specific Isoform of LIMK2 Expressed in Central Nervous System and Associated with Intellectual Disability.
Tastet J, Cuberos H, Vallée B, Toutain A, Raynaud M, Marouillat S, Thépault RA, Laumonnier F, Bonnet-Brilhault F, Vourc'h P, Andres CR, Bénédetti H. Tastet J, et al. Among authors: laumonnier f. Neuroscience. 2019 Feb 10;399:199-210. doi: 10.1016/j.neuroscience.2018.12.017. Epub 2018 Dec 27. Neuroscience. 2019. PMID: 30594563
Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment.
Quartier A, Courraud J, Thi Ha T, McGillivray G, Isidor B, Rose K, Drouot N, Savidan MA, Feger C, Jagline H, Chelly J, Shaw M, Laumonnier F, Gecz J, Mandel JL, Piton A. Quartier A, et al. Among authors: laumonnier f. Hum Mutat. 2019 Nov;40(11):2021-2032. doi: 10.1002/humu.23836. Epub 2019 Jul 29. Hum Mutat. 2019. PMID: 31184401
60 results