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Page 1
Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.
Rodriguez D, Gauthier F, Bertini E, Bugiani M, Brenner M, N'guyen S, Goizet C, Gelot A, Surtees R, Pedespan JM, Hernandorena X, Troncoso M, Uziel G, Messing A, Ponsot G, Pham-Dinh D, Dautigny A, Boespflug-Tanguy O. Rodriguez D, et al. Am J Hum Genet. 2001 Nov;69(5):1134-40. doi: 10.1086/323799. Epub 2001 Sep 20. Am J Hum Genet. 2001. PMID: 11567214 Free PMC article.
Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.
Bonneau D, Colin E, Oca F, Ferré M, Chevrollier A, Guéguen N, Desquiret-Dumas V, N'Guyen S, Barth M, Zanlonghi X, Rio M, Desguerre I, Barnerias C, Momtchilova M, Rodriguez D, Slama A, Lenaers G, Procaccio V, Amati-Bonneau P, Reynier P. Bonneau D, et al. Brain. 2014 Oct;137(Pt 10):e301. doi: 10.1093/brain/awu184. Epub 2014 Jul 10. Brain. 2014. PMID: 25012220 Free article. No abstract available.
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. 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.
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.
Colin E, Daniel J, Ziegler A, Wakim J, Scrivo A, Haack TB, Khiati S, Denommé AS, Amati-Bonneau P, Charif M, Procaccio V, Reynier P, Aleck KA, Botto LD, Herper CL, Kaiser CS, Nabbout R, N'Guyen S, Mora-Lorca JA, Assmann B, Christ S, Meitinger T, Strom TM, Prokisch H; FREX Consortium; Miranda-Vizuete A, Hoffmann GF, Lenaers G, Bomont P, Liebau E, Bonneau D. Colin E, et al. Am J Hum Genet. 2016 Sep 1;99(3):695-703. doi: 10.1016/j.ajhg.2016.06.030. Epub 2016 Aug 18. Am J Hum Genet. 2016. PMID: 27545681 Free PMC article.
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.
Thomas Q, Gautier T, Marafi D, Besnard T, Willems M, Moutton S, Isidor B, Cogné B, Conrad S, Tenconi R, Iascone M, Sorlin A, Masurel A, Dabir T, Jackson A, Banka S, Delanne J, Lupski JR, Saadi NW, Alkuraya FS, Zahrani FA, Agrawal PB, England E, Madden JA, Posey JE, Burglen L, Rodriguez D, Chevarin M, Nguyen S, Mau-Them FT, Duffourd Y, Garret P, Bruel AL, Callier P, Marle N, Denomme-Pichon AS, Duplomb L, Philippe C, Thauvin-Robinet C, Govin J, Faivre L, Vitobello A. Thomas Q, et al. Genet Med. 2021 Oct;23(10):1901-1911. doi: 10.1038/s41436-021-01218-6. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113008 Free article.
Low to undetectable Omicron BQ.1.1 neutralization by patient's sera a month after initiation of AZD7442 600 mg.
Touret F, Martin-Blondel G, de Lamballerie X, Dupont A, Izopet J, Mentré F, Kamar N, Autran B, Paintaud G, Caillard S, Richez C, Couzi L, Xhaard A, Marjanovic Z, Avouac J, Jacquet C, Anglicheau D, Cheminant M, Yazdanpanah Y, N'Guyen S, Terrier B, Gottenberg JE, Besson C, Letrou S, Kali S, Angoulvant D, Barthélémy K, Priet S, Nurtop E, Sanchez VP, Tardivon C, Blancho G, Le Bourgeois A, Lévy V. Touret F, et al. Among authors: n guyen s. J Infect. 2023 May;86(5):e126-e129. doi: 10.1016/j.jinf.2023.02.002. Epub 2023 Feb 5. J Infect. 2023. PMID: 36750165 No abstract available.
Does neoadjuvant FOLFOX chemotherapy improve the prognosis of high-risk Stage II and III colon cancers? Three years' follow-up results of the PRODIGE 22 phase II randomized multicentre trial.
Karoui M, Gallois C, Piessen G, Legoux JL, Barbier E, De Chaisemartin C, Lecaille C, Bouche O, Ammarguellat H, Brunetti F, Prudhomme M, Regimbeau JM, Glehen O, Lievre A, Portier G, Hartwig J, Goujon G, Romain B, Lepage C, Taieb J; for PRODIGE 22 investigators/Collaborators. Karoui M, et al. Colorectal Dis. 2021 Jun;23(6):1357-1369. doi: 10.1111/codi.15585. Epub 2021 Mar 10. Colorectal Dis. 2021. PMID: 33580623 Clinical Trial.
A big-data approach to producing descriptive anthropometric references: a feasibility and validation study of paediatric growth charts.
Heude B, Scherdel P, Werner A, Le Guern M, Gelbert N, Walther D, Arnould M, Bellaïche M, Chevallier B, Cheymol J, Jobez E, N'Guyen S, Pietrement C, Reynaud R, Salaün JF, Khoshnood B, Zeitlin J, Maccario J, Breart G, Thalabard JC, Charles MA, Botton J, Frandji B, Chalumeau M. Heude B, et al. Among authors: n guyen s. Lancet Digit Health. 2019 Dec;1(8):e413-e423. doi: 10.1016/S2589-7500(19)30149-9. Epub 2019 Nov 7. Lancet Digit Health. 2019. PMID: 33323223 Free article.
36 results