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Year Number of Results
1994 1
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1998 7
1999 3
2000 5
2001 1
2002 4
2003 4
2004 4
2005 5
2006 7
2007 5
2008 9
2009 8
2010 5
2011 5
2012 7
2013 14
2014 13
2015 14
2016 8
2017 10
2018 9
2019 5
2020 3
2021 3
2022 4
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2024 3
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2026 0

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163 results

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Page 1
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.
Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8).
Curie A, Lion-François L, Valayannopoulos V, Perreton N, Gavanon M, Touil N, Brun-Laurisse A, Gheurbi F, Buchy M, Halep H, Cheillan D, Mercier C, Brassier A, Desnous B, Kassai B, De Lonlay P, Des Portes V. Curie A, et al. Among authors: des portes v. Neurology. 2024 Apr 23;102(8):e209243. doi: 10.1212/WNL.0000000000209243. Epub 2024 Mar 26. Neurology. 2024. PMID: 38531017
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 Free article. Review.
A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.
Héron D, Gerasimenko A, Frugère L, Ducourneau J, Rossi C, Nava C, de Sainte-Agathe JM, Mignot C, Lehalle D, Grotto S, El-Khattabi L, Nguyen T, Garel C, Blondiaux E, Milh M, Desnous B, Girard N, des Portes V, Guibaud L, Sabatier I, Patat O, Julia S, Benachi A, Vivanti A, Picone O, Guet A, Nizon M, Vincent M, Conrad S, Le Vaillant C, Billette de Villemeur T, Moutton S, Tsatsaris V, Guilbaud L, Jouannic JM, Valence S, Keren B, Heide S. Héron D, et al. Among authors: des portes v. Brain. 2025 Dec 4;148(12):4253-4258. doi: 10.1093/brain/awaf311. Brain. 2025. PMID: 40905141
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
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
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.
El Chehadeh S, Heide S, Quélin C, Rio M, Margot H, Geneviève D, Isidor B, Goldenberg A, Guégan C, Lesca G, Willems M, Ormières C, Caumes R, Busa T, Bonneau D, Guerrot AM, Marey I, Vera G, Marzin P, Philippe A, Garde A, Coubes C, Vincent M, Michaud V, Mignot C, Charles P, Sigaudy S, Edery P, Lacombe D, Boland A, Nowak F, Bouctot M, Humbert-Asensio ML, Simon A, Chennen K, Sabour N, Delmas C, Nicolas G, Saugier-Veber P, Lecoquierre F, Cassinari K, Keren B, Courtin T, De Sainte Agathe JM, Malan V, Barcia G, Tran Mau-Them F, Safraou H, Philippe C, Thévenon J, Chatron N, Januel L, Piton A, Haushalter V, Gérard B, Lejeune C, Faivre L, Sanlaville D, Héron D, Odent S, Nitschké P, Schluth-Bolard C, Lyonnet S, Deleuze JF, Binquet C, Dollfus H; DEFIDIAG study group. El Chehadeh S, et al. Genome Med. 2025 Oct 3;17(1):110. doi: 10.1186/s13073-025-01527-4. Genome Med. 2025. PMID: 41044778 Free PMC article.
STARDEV Study: Neurodevelopmental Trajectory and Long-Term Outcomes of Patients with Startle Disease/Hyperekplexia.
Pina D, Roubertie A, Spitz MA, Ravelli C, Bahi-Buisson N, Gheurbi F, Buchy M, Loppinet T, Chemaly-Perin N, Nougues MC, Heron B, Lopez R, Anheim M, Fradin M, Cances C, Avez-Couturier J, Dalmon F, Lesca G, Des Portes V, Lion-François L. Pina D, et al. Among authors: des portes v. Mov Disord Clin Pract. 2025 Sep;12(9):1367-1373. doi: 10.1002/mdc3.70071. Epub 2025 Apr 7. Mov Disord Clin Pract. 2025. PMID: 40192101 Free PMC article.
[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.
163 results