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Year Number of Results
2010 1
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2015 2
2016 4
2017 1
2018 3
2019 4
2020 3
2021 1
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17 results
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Page 1
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
Allach El Khattabi L, Heide S, Caberg JH, Andrieux J, Doco Fenzy M, Vincent-Delorme C, Callier P, Chantot-Bastaraud S, Afenjar A, Boute-Benejean O, Cordier MP, Faivre L, Francannet C, Gerard M, Goldenberg A, Masurel-Paulet A, Mosca-Boidron AL, Marle N, Moncla A, Le Meur N, Mathieu-Dramard M, Plessis G, Lesca G, Rossi M, Edery P, Delahaye-Duriez A, De Pontual L, Tabet AC, Lebbar A, Suiro L, Ioos C, Natiq A, Chafai Elalaoui S, Missirian C, Receveur A, François-Fiquet C, Garnier P, Yardin C, Laroche C, Vago P, Sanlaville D, Dupont JM, Benzacken B, Pipiras E. Allach El Khattabi L, et al. J Med Genet. 2020 May;57(5):301-307. doi: 10.1136/jmedgenet-2018-105389. Epub 2018 Oct 4. J Med Genet. 2020. PMID: 30287593
Decreased microglial Wnt/β-catenin signalling drives microglial pro-inflammatory activation in the developing brain.
Van Steenwinckel J, Schang AL, Krishnan ML, Degos V, Delahaye-Duriez A, Bokobza C, Csaba Z, Verdonk F, Montané A, Sigaut S, Hennebert O, Lebon S, Schwendimann L, Le Charpentier T, Hassan-Abdi R, Ball G, Aljabar P, Saxena A, Holloway RK, Birchmeier W, Baud O, Rowitch D, Miron V, Chretien F, Leconte C, Besson VC, Petretto EG, Edwards AD, Hagberg H, Soussi-Yanicostas N, Fleiss B, Gressens P. Van Steenwinckel J, et al. Brain. 2019 Dec 1;142(12):3806-3833. doi: 10.1093/brain/awz319. Brain. 2019. PMID: 31665242 Free PMC article.
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.
Goldenberg A, Riccardi F, Tessier A, Pfundt R, Busa T, Cacciagli P, Capri Y, Coutton C, Delahaye-Duriez A, Frebourg T, Gatinois V, Guerrot AM, Genevieve D, Lecoquierre F, Jacquette A, Khau Van Kien P, Leheup B, Marlin S, Verloes A, Michaud V, Nadeau G, Mignot C, Parent P, Rossi M, Toutain A, Schaefer E, Thauvin-Robinet C, Van Maldergem L, Thevenon J, Satre V, Perrin L, Vincent-Delorme C, Sorlin A, Missirian C, Villard L, Mancini J, Saugier-Veber P, Philip N. Goldenberg A, et al. Am J Med Genet A. 2016 Nov;170(11):2847-2859. doi: 10.1002/ajmg.a.37878. Epub 2016 Sep 8. Am J Med Genet A. 2016. PMID: 27605097
Cell Metabolic Alterations due to Mcph1 Mutation in Microcephaly.
Journiac N, Gilabert-Juan J, Cipriani S, Benit P, Liu X, Jacquier S, Faivre V, Delahaye-Duriez A, Csaba Z, Hourcade T, Melinte E, Lebon S, Violle-Poirsier C, Oury JF, Adle-Biassette H, Wang ZQ, Mani S, Rustin P, Gressens P, Nardelli J. Journiac N, et al. Cell Rep. 2020 Apr 14;31(2):107506. doi: 10.1016/j.celrep.2020.03.070. Cell Rep. 2020. PMID: 32294449 Free article.
Machine learning applications in drug development.
Réda C, Kaufmann E, Delahaye-Duriez A. Réda C, et al. Comput Struct Biotechnol J. 2019 Dec 26;18:241-252. doi: 10.1016/j.csbj.2019.12.006. eCollection 2020. Comput Struct Biotechnol J. 2019. PMID: 33489002 Free PMC article. Review.
Integrated systems-genetic analyses reveal a network target for delaying glioma progression.
Laaniste L, Srivastava PK, Stylianou J, Syed N, Cases-Cunillera S, Shkura K, Zeng Q, Rackham OJL, Langley SR, Delahaye-Duriez A, O'Neill K, Williams M, Becker A, Roncaroli F, Petretto E, Johnson MR. Laaniste L, et al. Ann Clin Transl Neurol. 2019 Sep;6(9):1616-1638. doi: 10.1002/acn3.50850. Epub 2019 Aug 17. Ann Clin Transl Neurol. 2019. PMID: 31420939 Free PMC article.
A systems-level framework for drug discovery identifies Csf1R as an anti-epileptic drug target.
Srivastava PK, van Eyll J, Godard P, Mazzuferi M, Delahaye-Duriez A, Van Steenwinckel J, Gressens P, Danis B, Vandenplas C, Foerch P, Leclercq K, Mairet-Coello G, Cardenas A, Vanclef F, Laaniste L, Niespodziany I, Keaney J, Gasser J, Gillet G, Shkura K, Chong SA, Behmoaras J, Kadiu I, Petretto E, Kaminski RM, Johnson MR. Srivastava PK, et al. Nat Commun. 2018 Sep 3;9(1):3561. doi: 10.1038/s41467-018-06008-4. Nat Commun. 2018. PMID: 30177815 Free PMC article.
Genome-wide analysis of differential RNA editing in epilepsy.
Srivastava PK, Bagnati M, Delahaye-Duriez A, Ko JH, Rotival M, Langley SR, Shkura K, Mazzuferi M, Danis B, van Eyll J, Foerch P, Behmoaras J, Kaminski RM, Petretto E, Johnson MR. Srivastava PK, et al. Genome Res. 2017 Mar;27(3):440-450. doi: 10.1101/gr.210740.116. Genome Res. 2017. PMID: 28250018 Free PMC article.
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