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Page 1
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Leblond CS, Heinrich J, Delorme R, Proepper C, Betancur C, Huguet G, Konyukh M, Chaste P, Ey E, Rastam M, Anckarsäter H, Nygren G, Gillberg IC, Melke J, Toro R, Regnault B, Fauchereau F, Mercati O, Lemière N, Skuse D, Poot M, Holt R, Monaco AP, Järvelä I, Kantojärvi K, Vanhala R, Curran S, Collier DA, Bolton P, Chiocchetti A, Klauck SM, Poustka F, Freitag CM, Waltes R, Kopp M, Duketis E, Bacchelli E, Minopoli F, Ruta L, Battaglia A, Mazzone L, Maestrini E, Sequeira AF, Oliveira B, Vicente A, Oliveira G, Pinto D, Scherer SW, Zelenika D, Delepine M, Lathrop M, Bonneau D, Guinchat V, Devillard F, Assouline B, Mouren MC, Leboyer M, Gillberg C, Boeckers TM, Bourgeron T. Leblond CS, et al. Among authors: delepine m. PLoS Genet. 2012 Feb;8(2):e1002521. doi: 10.1371/journal.pgen.1002521. Epub 2012 Feb 9. PLoS Genet. 2012. PMID: 22346768 Free PMC article.
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
Leblond CS, Nava C, Polge A, Gauthier J, Huguet G, Lumbroso S, Giuliano F, Stordeur C, Depienne C, Mouzat K, Pinto D, Howe J, Lemière N, Durand CM, Guibert J, Ey E, Toro R, Peyre H, Mathieu A, Amsellem F, Rastam M, Gillberg IC, Rappold GA, Holt R, Monaco AP, Maestrini E, Galan P, Heron D, Jacquette A, Afenjar A, Rastetter A, Brice A, Devillard F, Assouline B, Laffargue F, Lespinasse J, Chiesa J, Rivier F, Bonneau D, Regnault B, Zelenika D, Delepine M, Lathrop M, Sanlaville D, Schluth-Bolard C, Edery P, Perrin L, Tabet AC, Schmeisser MJ, Boeckers TM, Coleman M, Sato D, Szatmari P, Scherer SW, Rouleau GA, Betancur C, Leboyer M, Gillberg C, Delorme R, Bourgeron T. Leblond CS, et al. Among authors: delepine m. PLoS Genet. 2014 Sep 4;10(9):e1004580. doi: 10.1371/journal.pgen.1004580. eCollection 2014 Sep. PLoS Genet. 2014. PMID: 25188300 Free PMC article.
CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders.
Mercati O, Huguet G, Danckaert A, André-Leroux G, Maruani A, Bellinzoni M, Rolland T, Gouder L, Mathieu A, Buratti J, Amsellem F, Benabou M, Van-Gils J, Beggiato A, Konyukh M, Bourgeois JP, Gazzellone MJ, Yuen RK, Walker S, Delépine M, Boland A, Régnault B, Francois M, Van Den Abbeele T, Mosca-Boidron AL, Faivre L, Shimoda Y, Watanabe K, Bonneau D, Rastam M, Leboyer M, Scherer SW, Gillberg C, Delorme R, Cloëz-Tayarani I, Bourgeron T. Mercati O, et al. Among authors: delepine m. Mol Psychiatry. 2017 Apr;22(4):625-633. doi: 10.1038/mp.2016.61. Epub 2016 May 10. Mol Psychiatry. 2017. PMID: 27166760 Free PMC article.
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
Bonnet C, Grati M, Marlin S, Levilliers J, Hardelin JP, Parodi M, Niasme-Grare M, Zelenika D, Délépine M, Feldmann D, Jonard L, El-Amraoui A, Weil D, Delobel B, Vincent C, Dollfus H, Eliot MM, David A, Calais C, Vigneron J, Montaut-Verient B, Bonneau D, Dubin J, Thauvin C, Duvillard A, Francannet C, Mom T, Lacombe D, Duriez F, Drouin-Garraud V, Thuillier-Obstoy MF, Sigaudy S, Frances AM, Collignon P, Challe G, Couderc R, Lathrop M, Sahel JA, Weissenbach J, Petit C, Denoyelle F. Bonnet C, et al. Among authors: delepine m. Orphanet J Rare Dis. 2011 May 11;6:21. doi: 10.1186/1750-1172-6-21. Orphanet J Rare Dis. 2011. PMID: 21569298 Free PMC article.
Lung cancer susceptibility locus at 5p15.33.
McKay JD, Hung RJ, Gaborieau V, Boffetta P, Chabrier A, Byrnes G, Zaridze D, Mukeria A, Szeszenia-Dabrowska N, Lissowska J, Rudnai P, Fabianova E, Mates D, Bencko V, Foretova L, Janout V, McLaughlin J, Shepherd F, Montpetit A, Narod S, Krokan HE, Skorpen F, Elvestad MB, Vatten L, Njølstad I, Axelsson T, Chen C, Goodman G, Barnett M, Loomis MM, Lubiñski J, Matyjasik J, Lener M, Oszutowska D, Field J, Liloglou T, Xinarianos G, Cassidy A; EPIC Study; Vineis P, Clavel-Chapelon F, Palli D, Tumino R, Krogh V, Panico S, González CA, Ramón Quirós J, Martínez C, Navarro C, Ardanaz E, Larrañaga N, Kham KT, Key T, Bueno-de-Mesquita HB, Peeters PH, Trichopoulou A, Linseisen J, Boeing H, Hallmans G, Overvad K, Tjønneland A, Kumle M, Riboli E, Zelenika D, Boland A, Delepine M, Foglio M, Lechner D, Matsuda F, Blanche H, Gut I, Heath S, Lathrop M, Brennan P. McKay JD, et al. Among authors: delepine m. Nat Genet. 2008 Dec;40(12):1404-6. doi: 10.1038/ng.254. Epub 2008 Nov 2. Nat Genet. 2008. PMID: 18978790 Free PMC article.
Large-scale test of hypothesised associations between the angiotensin-converting-enzyme insertion/deletion polymorphism and myocardial infarction in about 5000 cases and 6000 controls. International Studies of Infarct Survival (ISIS) Collaborators.
Keavney B, McKenzie C, Parish S, Palmer A, Clark S, Youngman L, Delépine M, Lathrop M, Peto R, Collins R. Keavney B, et al. Among authors: delepine m. Lancet. 2000 Feb 5;355(9202):434-42. doi: 10.1016/s0140-6736(00)82009-7. Lancet. 2000. PMID: 10841123
Large-scale evidence that the cardiotoxicity of smoking is not significantly modified by the apolipoprotein E epsilon2/epsilon3/epsilon4 genotype.
Keavney B, Parish S, Palmer A, Clark S, Youngman L, Danesh J, McKenzie C, Delépine M, Lathrop M, Peto R, Collins R; International Studies of Infarct Survival (ISIS) Collaborators. Keavney B, et al. Among authors: delepine m. Lancet. 2003 Feb 1;361(9355):396-8. doi: 10.1016/S0140-6736(03)12386-0. Lancet. 2003. PMID: 12573381
57 results