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Page 1
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Küry S, Besnard T, Ebstein F, Khan TN, Gambin T, Douglas J, Bacino CA, Craigen WJ, Sanders SJ, Lehmann A, Latypova X, Khan K, Pacault M, Sacharow S, Glaser K, Bieth E, Perrin-Sabourin L, Jacquemont ML, Cho MT, Roeder E, Denommé-Pichon AS, Monaghan KG, Yuan B, Xia F, Simon S, Bonneau D, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Pasquier L, Barbouth D, Shaw CA, Patel A, Smith JL, Bi W, Schmitt S, Deb W, Nizon M, Mercier S, Vincent M, Rooryck C, Malan V, Briceño I, Gómez A, Nugent KM, Gibson JB, Cogné B, Lupski JR, Stessman HA, Eichler EE, Retterer K, Yang Y, Redon R, Katsanis N, Rosenfeld JA, Kloetzel PM, Golzio C, Bézieau S, Stankiewicz P, Isidor B. Küry S, et al. Among authors: malan v. Am J Hum Genet. 2017 Apr 6;100(4):689. doi: 10.1016/j.ajhg.2017.03.003. Am J Hum Genet. 2017. PMID: 28388435 Free PMC article. No abstract available.
2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency.
Brakta C, Tabet AC, Puel M, Pacault M, Stolzenberg MC, Goudet C, Merger M, Reumaux H, Lambert N, Alioua N, Malan V, Hanein S, Dupin-Deguine D, Treiner E, Lefèvre G, Farhat MM, Luca LE, Hureaux M, Li H, Chelloug N, Dehak R, Boussion S, Ouachée-Chardin M, Schleinitz N, Abou Chahla W, Barlogis V, Vély F, Oksenhendler E, Quartier P, Pasquet M, Suarez F, Bustamante J, Neven B, Picard C, Rieux-Laucat F, Lévy J, Rosain J. Brakta C, et al. Among authors: malan v. J Clin Immunol. 2024 Nov 23;45(1):46. doi: 10.1007/s10875-024-01831-5. J Clin Immunol. 2024. PMID: 39578275
A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.
Nicolle R, Altin N, Siquier-Pernet K, Salignac S, Blanc P, Munnich A, Bole-Feysot C, Malan V, Caron B, Nitschké P, Desguerre I, Boddaert N, Rio M, Rausell A, Cantagrel V. Nicolle R, et al. Among authors: malan v. BMC Med Genomics. 2023 Jun 21;16(1):143. doi: 10.1186/s12920-023-01582-z. BMC Med Genomics. 2023. PMID: 37344844 Free PMC article.
Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1.
Lajmi Y, Loeuillet L, Petrilli G, Egloff C, Nectoux J, Molac C, Roux N, Pannier E, Achaiaa A, Arkoub ZA, Chuon S, Coussement A, Dupont JM, Malan V, Spaggiari E, Razavi F, Amiel J, Bessières B, Grotto S, Attié-Bitach T. Lajmi Y, et al. Among authors: malan v. Birth Defects Res. 2023 Mar 15;115(5):563-571. doi: 10.1002/bdr2.2141. Epub 2022 Dec 20. Birth Defects Res. 2023. PMID: 36538874
Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.
Bensaid S, Bendahmane M, Loddo S, Poke G, Januel L, Nicolle R, Malan V, Chatron N, Ottombrino S, Dentici ML, Novelli A, Digilio MC, Sanlaville D. Bensaid S, et al. Among authors: malan v. Am J Med Genet A. 2024 Jul;194(7):e63580. doi: 10.1002/ajmg.a.63580. Epub 2024 Mar 21. Am J Med Genet A. 2024. PMID: 38511524 Review.
Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech.
Ormieres C, Lesieur-Sebellin M, Siquier-Pernet K, Delplancq G, Rio M, Parisot M, Nitschké P, Rodriguez-Fontenla C, Bodineau A, Narcy L, Schlumberger E, Cantagrel V, Malan V. Ormieres C, et al. Among authors: malan v. Mol Autism. 2025 Feb 13;16(1):10. doi: 10.1186/s13229-025-00642-8. Mol Autism. 2025. PMID: 39948625 Free PMC article.
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.
Amiel J, Rio M, de Pontual L, Redon R, Malan V, Boddaert N, Plouin P, Carter NP, Lyonnet S, Munnich A, Colleaux L. Amiel J, et al. Among authors: malan v. Am J Hum Genet. 2007 May;80(5):988-93. doi: 10.1086/515582. Epub 2007 Mar 23. Am J Hum Genet. 2007. PMID: 17436254 Free PMC article.
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
Yuan B, Harel T, Gu S, Liu P, Burglen L, Chantot-Bastaraud S, Gelowani V, Beck CR, Carvalho CM, Cheung SW, Coe A, Malan V, Munnich A, Magoulas PL, Potocki L, Lupski JR. Yuan B, et al. Among authors: malan v. Am J Hum Genet. 2015 Nov 5;97(5):691-707. doi: 10.1016/j.ajhg.2015.10.003. Am J Hum Genet. 2015. PMID: 26544804 Free PMC article.
118 results