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Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
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.
Key role for gene dosage and synaptic homeostasis in autism spectrum disorders.
Toro R, Konyukh M, Delorme R, Leblond C, Chaste P, Fauchereau F, Coleman M, Leboyer M, Gillberg C, Bourgeron T.
Toro R, et al. Among authors: konyukh m.
Trends Genet. 2010 Aug;26(8):363-72. doi: 10.1016/j.tig.2010.05.007. Epub 2010 Jul 6.
Trends Genet. 2010.
PMID: 20609491
Free article.
Review.
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Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.
Konyukh M, Delorme R, Chaste P, Leblond C, Lemière N, Nygren G, Anckarsäter H, Rastam M, Ståhlberg O, Amsellem F, Gillberg IC, Mouren-Simeoni MC, Herbrecht E, Fauchereau F, Toro R, Gillberg C, Leboyer M, Bourgeron T.
Konyukh M, et al.
PLoS One. 2011 Mar 4;6(3):e17289. doi: 10.1371/journal.pone.0017289.
PLoS One. 2011.
PMID: 21394203
Free PMC article.
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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: konyukh 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.
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Genetic variations of the melatonin pathway in patients with attention-deficit and hyperactivity disorders.
Chaste P, Clement N, Botros HG, Guillaume JL, Konyukh M, Pagan C, Scheid I, Nygren G, Anckarsäter H, Rastam M, Ståhlberg O, Gillberg IC, Melke J, Delorme R, Leblond C, Toro R, Huguet G, Fauchereau F, Durand C, Boudarene L, Serrano E, Lemière N, Launay JM, Leboyer M, Jockers R, Gillberg C, Bourgeron T.
Chaste P, et al. Among authors: konyukh m.
J Pineal Res. 2011 Nov;51(4):394-9. doi: 10.1111/j.1600-079X.2011.00902.x. Epub 2011 May 26.
J Pineal Res. 2011.
PMID: 21615493
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Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH.
Tisserant E, Vitobello A, Callegarin D, Verdez S, Bruel AL, Aho Glele LS, Sorlin A, Viora-Dupont E, Konyukh M, Marle N, Nambot S, Moutton S, Racine C, Garde A, Delanne J, Tran-Mau-Them F, Philippe C, Kuentz P, Poulleau M, Payet M, Poe C, Thauvin-Robinet C, Faivre L, Mosca-Boidron AL, Thevenon J, Duffourd Y, Callier P.
Tisserant E, et al. Among authors: konyukh m.
Ann Hum Genet. 2022 Jul;86(4):171-180. doi: 10.1111/ahg.12459. Epub 2022 Feb 9.
Ann Hum Genet. 2022.
PMID: 35141892
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A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family.
Theuriet J, Marte S, Isapof A, de Becdelièvre A, Konyukh M, Laureano-Figueroa SM, Latour P, Quadrio I, Maisonobe T, Antonellis A, Stojkovic T.
Theuriet J, et al. Among authors: konyukh m.
J Peripher Nerv Syst. 2024 May 20. doi: 10.1111/jns.12635. Online ahead of print.
J Peripher Nerv Syst. 2024.
PMID: 38769024
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