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669 results

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Page 1
A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients.
Curie A, Brun A, Cheylus A, Reboul A, Nazir T, Bussy G, Delange K, Paulignan Y, Mercier S, David A, Marignier S, Merle L, de Fréminville B, Prieur F, Till M, Mortemousque I, Toutain A, Bieth E, Touraine R, Sanlaville D, Chelly J, Kong J, Ott D, Kassai B, Hadjikhani N, Gollub RL, des Portes V. Curie A, et al. Among authors: chelly j. PLoS One. 2016 Feb 26;11(2):e0149717. doi: 10.1371/journal.pone.0149717. eCollection 2016. PLoS One. 2016. PMID: 26918704 Free PMC article.
The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.
Curie A, Nazir T, Brun A, Paulignan Y, Reboul A, Delange K, Cheylus A, Bertrand S, Rochefort F, Bussy G, Marignier S, Lacombe D, Chiron C, Cossée M, Leheup B, Philippe C, Laugel V, De Saint Martin A, Sacco S, Poirier K, Bienvenu T, Souville I, Gilbert-Dussardier B, Bieth E, Kauffmann D, Briot P, de Fréminville B, Prieur F, Till M, Rooryck-Thambo C, Mortemousque I, Bobillier-Chaumont I, Toutain A, Touraine R, Sanlaville D, Chelly J, Freeman S, Kong J, Hadjikhani N, Gollub RL, Roy A, des Portes V. Curie A, et al. Among authors: chelly j. Orphanet J Rare Dis. 2014 Feb 14;9:25. doi: 10.1186/1750-1172-9-25. Orphanet J Rare Dis. 2014. PMID: 24528893 Free PMC article.
[Update on the genetics of X-linked mental retardation].
Bahi-Buisson N, Chelly J, des Portes V. Bahi-Buisson N, et al. Among authors: chelly j. Rev Neurol (Paris). 2006 Oct;162(10):952-63. doi: 10.1016/s0035-3787(06)75105-0. Rev Neurol (Paris). 2006. PMID: 17028563 Review. French.
[Mental retardation and disorders of cortical development].
Des Portes V, Pinard JM, Francis F, Beldjord C, Ponsot G, Chelly J. Des Portes V, et al. Among authors: chelly j. Arch Pediatr. 2000 May;7 Suppl 2:109s-111s. doi: 10.1016/s0929-693x(00)80002-0. Arch Pediatr. 2000. PMID: 10904675 French. No abstract available.
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.
Daoud F, Angeard N, Demerre B, Martie I, Benyaou R, Leturcq F, Cossée M, Deburgrave N, Saillour Y, Tuffery S, Urtizberea A, Toutain A, Echenne B, Frischman M, Mayer M, Desguerre I, Estournet B, Réveillère C, Penisson-Besnier, Cuisset JM, Kaplan JC, Héron D, Rivier F, Chelly J. Daoud F, et al. Among authors: chelly j. Hum Mol Genet. 2009 Oct 15;18(20):3779-94. doi: 10.1093/hmg/ddp320. Epub 2009 Jul 14. Hum Mol Genet. 2009. PMID: 19602481
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.
Mercier S, Toutain A, Toussaint A, Raynaud M, de Barace C, Marcorelles P, Pasquier L, Blayau M, Espil C, Parent P, Journel H, Lazaro L, Andoni Urtizberea J, Moerman A, Faivre L, Eymard B, Maincent K, Gherardi R, Chaigne D, Ben Yaou R, Leturcq F, Chelly J, Desguerre I. Mercier S, et al. Among authors: chelly j. Eur J Hum Genet. 2013 Aug;21(8):855-63. doi: 10.1038/ejhg.2012.269. Epub 2013 Jan 9. Eur J Hum Genet. 2013. PMID: 23299919 Free PMC article.
669 results