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Page 1
Implication of folate deficiency in CYP2U1 loss of function.
Pujol C, Legrand A, Parodi L, Thomas P, Mochel F, Saracino D, Coarelli G, Croon M, Popovic M, Valet M, Villain N, Elshafie S, Issa M, Zuily S, Renaud M, Marelli-Tosi C, Legendre M, Trimouille A, Kemlin I, Mathieu S, Gleeson JG, Lamari F, Galatolo D, Alkouri R, Tse C, Rodriguez D, Ewenczyk C, Fellmann F, Kuntzer T, Blond E, El Hachimi KH, Darios F, Seyer A, Gazi AD, Giavalisco P, Perin S, Boucher JL, Le Corre L, Santorelli FM, Goizet C, Zaki MS, Picaud S, Mourier A, Steculorum SM, Mignot C, Durr A, Trifunovic A, Stevanin G. Pujol C, et al. Among authors: trimouille a. J Exp Med. 2021 Nov 1;218(11):e20210846. doi: 10.1084/jem.20210846. Epub 2021 Sep 21. J Exp Med. 2021. PMID: 34546337 Free PMC article.
An in-frame deletion in BICD2 associated with a non-progressive form of SMALED.
Trimouille A, Obre É, Banneau G, Durr A, Stevanin G, Clot F, Pennamen P, Perez JT, Bailly-Scappaticci C, Rouanet M, Delleci C, Sole G, Mathis S, Goizet C. Trimouille A, et al. Clin Neurol Neurosurg. 2018 Mar;166:1-3. doi: 10.1016/j.clineuro.2018.01.013. Epub 2018 Jan 30. Clin Neurol Neurosurg. 2018. PMID: 29353221 No abstract available.
Adult onset tubulo-interstitial nephropathy in MT-ND5-related phenotypes.
Bakis H, Trimouille A, Vermorel A, Redonnet I, Goizet C, Boulestreau R, Lacombe D, Combe C, Martin-Négrier ML, Rigothier C. Bakis H, et al. Among authors: trimouille a. Clin Genet. 2020 Apr;97(4):628-633. doi: 10.1111/cge.13670. Epub 2020 Jan 9. Clin Genet. 2020. PMID: 31713837
Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes.
Markus F, Angelini C, Trimouille A, Rudolf G, Lesca G, Goizet C, Lasseaux E, Arveiler B, van Slegtenhorst M, Brooks AS, Abou Jamra R, Korenke GC, Neidhardt J, Owczarek-Lipska M. Markus F, et al. Among authors: trimouille a. Mol Genet Genomic Med. 2020 Sep;8(9):e1388. doi: 10.1002/mgg3.1388. Epub 2020 Jun 25. Mol Genet Genomic Med. 2020. PMID: 32588540 Free PMC article.
Severe Thoracic and Spinal Bone Abnormalities in neurofibromatosis type 1.
Prudhomme L, Delleci C, Trimouille A, Chateil JF, Prodhomme O, Goizet C, Van Gils J. Prudhomme L, et al. Among authors: trimouille a. Eur J Med Genet. 2020 Apr;63(4):103815. doi: 10.1016/j.ejmg.2019.103815. Epub 2019 Nov 26. Eur J Med Genet. 2020. PMID: 31783133
Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA).
Courtois S, Angelini C, M Durand C, Dias Amoedo N, Courreges A, Dumon E, Le Quang M, Goizet C, Martin-Negrier ML, Rossignol R, Lacombe D, Coupry I, Trimouille A. Courtois S, et al. Among authors: trimouille a. Biochim Biophys Acta Mol Basis Dis. 2024 Jan;1870(1):166856. doi: 10.1016/j.bbadis.2023.166856. Epub 2023 Aug 26. Biochim Biophys Acta Mol Basis Dis. 2024. PMID: 37640115
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Almousa H, Lewis SA, Bakhtiari S, Nordlie SH, Pagnozzi A, Magee H, Efthymiou S, Heim JA, Cornejo P, Zaki MS, Anwar N, Maqbool S, Rahman F, Neilson DE, Vemuri A, Jin SC, Yang XR, Heidari A, van Gassen K, Trimouille A, Thauvin-Robinet C, Liu J, Bruel AL, Tomoum H, Shata MO, Hashem MO, Toosi MB, Karimiani EG, Yeşil G, Lingappa L, Baruah D, Ebrahimzadeh F, Van-Gils J, Faivre L, Zamani M, Galehdari H, Sadeghian S, Shariati G, Mohammad R, van der Smagt J, Qari A, Vincent JB, Innes AM, Dursun A, Özgül RK, Akar HT, Bilguvar K, Mignot C, Keren B, Raveli C, Burglen L, Afenjar A, Kaat LD, van Slegtenhorst M, Alkuraya F, Houlden H, Padilla-Lopez S, Maroofian R, Sacher M, Kruer MC. Almousa H, et al. Among authors: trimouille a. Brain. 2024 Jan 4;147(1):311-324. doi: 10.1093/brain/awad301. Brain. 2024. PMID: 37713627
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Husson T, Lecoquierre F, Nicolas G, Richard AC, Afenjar A, Audebert-Bellanger S, Badens C, Bilan F, Bizaoui V, Boland A, Bonnet-Dupeyron MN, Brischoux-Boucher E, Bonnet C, Bournez M, Boute O, Brunelle P, Caumes R, Charles P, Chassaing N, Chatron N, Cogné B, Colin E, Cormier-Daire V, Dard R, Dauriat B, Delanne J, Deleuze JF, Demurger F, Denommé-Pichon AS, Depienne C, Dieux A, Dubourg C, Edery P, El Chehadeh S, Faivre L, Fergelot P, Fradin M, Garde A, Geneviève D, Gilbert-Dussardier B, Goizet C, Goldenberg A, Gouy E, Guerrot AM, Guimier A, Harzalla I, Héron D, Isidor B, Lacombe D, Le Guillou Horn X, Keren B, Kuechler A, Lacaze E, Lavillaureix A, Lehalle D, Lesca G, Lespinasse J, Levy J, Lyonnet S, Morel G, Jean-Marçais N, Marlin S, Marsili L, Mignot C, Nambot S, Nizon M, Olaso R, Pasquier L, Perrin L, Petit F, Pingault V, Piton A, Prieur F, Putoux A, Planes M, Odent S, Quélin C, Quemener-Redon S, Rama M, Rio M, Rossi M, Schaefer E, Rondeau S, Saugier-Veber P, Smol T, Sigaudy S, Touraine R, Mau-Them FT, Trimouille A, Van Gils J, Vanlerberghe C, Vantalon V, Vera G, Vincent M, Ziegler A, Guillin O, Campion D, Charbonnier C. Husson T, et al. Among authors: trimouille a. Eur J Hum Genet. 2024 Feb;32(2):190-199. doi: 10.1038/s41431-023-01474-x. Epub 2023 Oct 23. Eur J Hum Genet. 2024. PMID: 37872275 Free PMC article.
61 results