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Page 1
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.
Mignot C, von Stülpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, Gachet B, Marie Y, Korenke GC, Borggraefe I, Hoffmann-Zacharska D, Szczepanik E, Rudzka-Dybała M, Yiş U, Çağlayan H, Isapof A, Marey I, Panagiotakaki E, Korff C, Rossier E, Riess A, Beck-Woedl S, Rauch A, Zweier C, Hoyer J, Reis A, Mironov M, Bobylova M, Mukhin K, Hernandez-Hernandez L, Maher B, Sisodiya S, Kuhn M, Glaeser D, Weckhuysen S, Myers CT, Mefford HC, Hörtnagel K, Biskup S; EuroEPINOMICS-RES MAE working group; Lemke JR, Héron D, Kluger G, Depienne C. Mignot C, et al. Among authors: marie y. J Med Genet. 2016 Aug;53(8):511-22. doi: 10.1136/jmedgenet-2015-103451. Epub 2016 Mar 17. J Med Genet. 2016. PMID: 26989088
A threshold for mitotic activity and post-surgical residual volume defines distinct prognostic groups for astrocytoma IDH-mutant.
Tran S, Thomas A, Aliouat I, Karachi C, Lozano F, Mokhtari K, Dehais C, Feuvret L, Carpentier C, Giry M, Doukani A, Lerond J, Marie Y, Sanson M, Idbaih A, Carpentier A, Hoang-Xuan K, Touat M, Capelle L, Bielle F. Tran S, et al. Among authors: marie y. Neuropathol Appl Neurobiol. 2023 Aug;49(4):e12928. doi: 10.1111/nan.12928. Neuropathol Appl Neurobiol. 2023. PMID: 37503540
RAD51 haploinsufficiency causes congenital mirror movements in humans.
Depienne C, Bouteiller D, Méneret A, Billot S, Groppa S, Klebe S, Charbonnier-Beaupel F, Corvol JC, Saraiva JP, Brueggemann N, Bhatia K, Cincotta M, Brochard V, Flamand-Roze C, Carpentier W, Meunier S, Marie Y, Gaussen M, Stevanin G, Wehrle R, Vidailhet M, Klein C, Dusart I, Brice A, Roze E. Depienne C, et al. Among authors: marie y. Am J Hum Genet. 2012 Feb 10;90(2):301-7. doi: 10.1016/j.ajhg.2011.12.002. Epub 2012 Feb 2. Am J Hum Genet. 2012. PMID: 22305526 Free PMC article.
De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
Nava C, Dalle C, Rastetter A, Striano P, de Kovel CG, Nabbout R, Cancès C, Ville D, Brilstra EH, Gobbi G, Raffo E, Bouteiller D, Marie Y, Trouillard O, Robbiano A, Keren B, Agher D, Roze E, Lesage S, Nicolas A, Brice A, Baulac M, Vogt C, El Hajj N, Schneider E, Suls A, Weckhuysen S, Gormley P, Lehesjoki AE, De Jonghe P, Helbig I, Baulac S, Zara F, Koeleman BP; EuroEPINOMICS RES Consortium; Haaf T, LeGuern E, Depienne C. Nava C, et al. Among authors: marie y. Nat Genet. 2014 Jun;46(6):640-5. doi: 10.1038/ng.2952. Epub 2014 Apr 20. Nat Genet. 2014. PMID: 24747641
Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome.
Depienne C, Ciura S, Trouillard O, Bouteiller D, Leitão E, Nava C, Keren B, Marie Y, Guegan J, Forlani S, Brice A, Anheim M, Agid Y, Krack P, Damier P, Viallet F, Houeto JL, Durif F, Vidailhet M, Worbe Y, Roze E, Kabashi E, Hartmann A. Depienne C, et al. Among authors: marie y. Tremor Other Hyperkinet Mov (N Y). 2019 Nov 22;9. doi: 10.7916/tohm.v0.693. eCollection 2019. Tremor Other Hyperkinet Mov (N Y). 2019. PMID: 31824749 Free PMC article.
Exome Sequencing Reveals Signal Transduction Genes Involved in Impulse Control Disorders in Parkinson's Disease.
Prud'hon S, Bekadar S, Rastetter A, Guégan J, Cormier-Dequaire F, Lacomblez L, Mangone G, You H, Daniau M, Marie Y, Bertrand H, Lesage S, Tezenas Du Montcel S, Anheim M, Brice A, Danjou F, Corvol JC. Prud'hon S, et al. Among authors: marie y. Front Neurol. 2020 Jul 21;11:641. doi: 10.3389/fneur.2020.00641. eCollection 2020. Front Neurol. 2020. PMID: 32793093 Free PMC article.
TP53 codon 72 polymorphism, p53 expression, and 1p/19q status in oligodendroglial tumors.
Idbaih A, Boisselier B, Marie Y, El Hallani S, Sanson M, Crinière E, Rodero M, Carpentier C, Paris S, Laigle-Donadey F, Ducray F, Hoang-Xuan K, Delattre JY. Idbaih A, et al. Among authors: marie y. Cancer Genet Cytogenet. 2007 Sep;177(2):103-7. doi: 10.1016/j.cancergencyto.2007.06.010. Cancer Genet Cytogenet. 2007. PMID: 17854663
Chromosome 7p11.2 (EGFR) variation influences glioma risk.
Sanson M, Hosking FJ, Shete S, Zelenika D, Dobbins SE, Ma Y, Enciso-Mora V, Idbaih A, Delattre JY, Hoang-Xuan K, Marie Y, Boisselier B, Carpentier C, Wang XW, Di Stefano AL, Labussière M, Gousias K, Schramm J, Boland A, Lechner D, Gut I, Armstrong G, Liu Y, Yu R, Lau C, Di Bernardo MC, Robertson LB, Muir K, Hepworth S, Swerdlow A, Schoemaker MJ, Wichmann HE, Müller M, Schreiber S, Franke A, Moebus S, Eisele L, Försti A, Hemminki K, Lathrop M, Bondy M, Houlston RS, Simon M. Sanson M, et al. Among authors: marie y. Hum Mol Genet. 2011 Jul 15;20(14):2897-904. doi: 10.1093/hmg/ddr192. Epub 2011 Apr 29. Hum Mol Genet. 2011. PMID: 21531791 Free PMC article.
Parental 19q loss and PEG3 expression in oligodendrogliomas.
Trouillard O, Aguirre-Cruz L, Hoang-Xuan K, Marie Y, Delattre JY, Sanson M. Trouillard O, et al. Among authors: marie y. Cancer Genet Cytogenet. 2004 Jun;151(2):182-3. doi: 10.1016/j.cancergencyto.2003.09.021. Cancer Genet Cytogenet. 2004. PMID: 15172758 No abstract available.
137 results