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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1994 1
1996 2
1997 4
1998 7
1999 3
2000 5
2001 1
2002 4
2003 4
2004 4
2005 5
2006 7
2007 4
2008 8
2009 6
2010 5
2011 5
2012 7
2013 13
2014 12
2015 13
2016 8
2017 10
2018 9
2019 5
2020 3
2021 3
2022 4
2023 5
2024 3

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151 results

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Page 1
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
Poirier K, Lebrun N, Broix L, Tian G, Saillour Y, Boscheron C, Parrini E, Valence S, Pierre BS, Oger M, Lacombe D, Geneviève D, Fontana E, Darra F, Cances C, Barth M, Bonneau D, Bernadina BD, N'guyen S, Gitiaux C, Parent P, des Portes V, Pedespan JM, Legrez V, Castelnau-Ptakine L, Nitschke P, Hieu T, Masson C, Zelenika D, Andrieux A, Francis F, Guerrini R, Cowan NJ, Bahi-Buisson N, Chelly J. Poirier K, et al. Among authors: des portes v. Nat Genet. 2013 Jun;45(6):639-47. doi: 10.1038/ng.2613. Epub 2013 Apr 21. Nat Genet. 2013. PMID: 23603762 Free PMC article.
Intellectual disability.
des Portes V. des Portes V. Handb Clin Neurol. 2020;174:113-126. doi: 10.1016/B978-0-444-64148-9.00009-0. Handb Clin Neurol. 2020. PMID: 32977872
X-linked mental deficiency.
des Portes V. des Portes V. Handb Clin Neurol. 2013;111:297-306. doi: 10.1016/B978-0-444-52891-9.00035-X. Handb Clin Neurol. 2013. PMID: 23622180 Review.
PIGN encephalopathy: Characterizing the epileptology.
Bayat A, de Valles-Ibáñez G, Pendziwiat M, Knaus A, Alt K, Biamino E, Bley A, Calvert S, Carney P, Caro-Llopis A, Ceulemans B, Cousin J, Davis S, des Portes V, Edery P, England E, Ferreira C, Freeman J, Gener B, Gorce M, Heron D, Hildebrand MS, Jezela-Stanek A, Jouk PS, Keren B, Kloth K, Kluger G, Kuhn M, Lemke JR, Li H, Martinez F, Maxton C, Mefford HC, Merla G, Mierzewska H, Muir A, Monfort S, Nicolai J, Norman J, O'Grady G, Oleksy B, Orellana C, Orec LE, Peinhardt C, Pronicka E, Rosello M, Santos-Simarro F, Schwaibold EMC, Stegmann APA, Stumpel CT, Szczepanik E, Terczyńska I, Thevenon J, Tzschach A, Van Bogaert P, Vittorini R, Walsh S, Weckhuysen S, Weissman B, Wolfe L, Reymond A, De Nittis P, Poduri A, Olson H, Striano P, Lesca G, Scheffer IE, Møller RS, Sadleir LG. Bayat A, et al. Among authors: des portes v. Epilepsia. 2022 Apr;63(4):974-991. doi: 10.1111/epi.17173. Epub 2022 Feb 18. Epilepsia. 2022. PMID: 35179230
[Creatine deficiency syndromes].
Cheillan D, Cognat S, Vandenberghe N, Des Portes V, Vianey-Saban C. Cheillan D, et al. Among authors: des portes v. Rev Neurol (Paris). 2005 Mar;161(3):284-9. doi: 10.1016/s0035-3787(05)85034-9. Rev Neurol (Paris). 2005. PMID: 15800449 Review. French.
New insights into CC2D2A-related Joubert syndrome.
Harion M, Qebibo L, Riquet A, Rougeot C, Afenjar A, Garel C, Louha M, Lacaze E, Audic-Gérard F, Barth M, Berquin P, Bonneau D, Bourdain F, Busa T, Colin E, Cuisset JM, Des Portes V, Dorison N, Francannet C, Héron B, Laroche C, Lebrun M, Métreau J, Odent S, Pasquier L, Trujillo YP, Perrin L, Pinson L, Rivier F, Sigaudy S, Thauvin-Robinet C, Louvier UW, Labayle O, Rodriguez D, Valence S, Burglen L. Harion M, et al. Among authors: des portes v. J Med Genet. 2023 Jun;60(6):578-586. doi: 10.1136/jmg-2022-108754. Epub 2022 Nov 1. J Med Genet. 2023. PMID: 36319078
[Psychomotor development of infants and children...].
Le Goff L, Mamimoue É, Pelluet A, Des Portes V, Fourneret P. Le Goff L, et al. Among authors: des portes v. Rev Prat. 2022 Jan;72(1):101-104. Rev Prat. 2022. PMID: 35258264 French. No abstract available.
GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms.
Ragnarsson L, Zhang Z, Das SS, Tran P, Andersson Å, des Portes V, Desmettre Altuzarra C, Remerand G, Labalme A, Chatron N, Sanlaville D, Lesca G, Anggono V, Vetter I, Keramidas A. Ragnarsson L, et al. Among authors: des portes v. Epilepsia. 2023 Dec;64(12):3377-3388. doi: 10.1111/epi.17776. Epub 2023 Oct 17. Epilepsia. 2023. PMID: 37734923 Free PMC article.
Further characterisation of ARX-related disorders in females due to inherited or de novo variants.
Gras M, Heide S, Keren B, Valence S, Garel C, Whalen S, Jansen AC, Keymolen K, Stouffs K, Jennesson M, Poirsier C, Lesca G, Depienne C, Nava C, Rastetter A, Curie A, Cuisset L, Des Portes V, Milh M, Charles P, Mignot C, Héron D. Gras M, et al. Among authors: des portes v. J Med Genet. 2024 Jan 19;61(2):103-108. doi: 10.1136/jmg-2023-109203. J Med Genet. 2024. PMID: 37879892 Review.
Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome.
Berry-Kravis EM, Lindemann L, Jønch AE, Apostol G, Bear MF, Carpenter RL, Crawley JN, Curie A, Des Portes V, Hossain F, Gasparini F, Gomez-Mancilla B, Hessl D, Loth E, Scharf SH, Wang PP, Von Raison F, Hagerman R, Spooren W, Jacquemont S. Berry-Kravis EM, et al. Among authors: des portes v. Nat Rev Drug Discov. 2018 Apr;17(4):280-299. doi: 10.1038/nrd.2017.221. Epub 2017 Dec 8. Nat Rev Drug Discov. 2018. PMID: 29217836 Free PMC article. Review.
151 results