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Page 1
Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors.
Lhussiez V, Dubus E, Cesar Q, Acar N, Nandrot EF, Simonutti M, Audo I, Lizé E, Nguyen S, Geissler A, Bouchot A, Ansar M, Picaud S, Thauvin-Robinet C, Olivier-Faivre L, Duplomb L, Da Costa R. Lhussiez V, et al. Among authors: nguyen s. Invest Ophthalmol Vis Sci. 2020 Sep 1;61(11):18. doi: 10.1167/iovs.61.11.18. Invest Ophthalmol Vis Sci. 2020. PMID: 32915983 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. Among authors: nguyen s. 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.
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.
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.
Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations.
Baulac S, Ishida S, Marsan E, Miquel C, Biraben A, Nguyen DK, Nordli D, Cossette P, Nguyen S, Lambrecq V, Vlaicu M, Daniau M, Bielle F, Andermann E, Andermann F, Leguern E, Chassoux F, Picard F. Baulac S, et al. Among authors: nguyen dk, nguyen s. Ann Neurol. 2015 Apr;77(4):675-83. doi: 10.1002/ana.24368. Epub 2015 Mar 13. Ann Neurol. 2015. PMID: 25623524 Free 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.
Country-specific key lifestyle factors and health outcomes for resource allocation in the general population: a network analysis across 29 countries.
Li J, Fong DYT, Lok KYW, Wong JYH, Ho MM, Choi EPH, Pandian V, Davidson PM, Duan W, Tarrant M, Lee JJ, Lin CC, Akingbade O, Alabdulwahhab KM, Ahmad MS, Alboraie M, Alzahrani MA, Bilimale AS, Boonpatcharanon S, Byiringiro S, Hasan MKC, Schettini LC, Corzo W, De Leon JM, De Leon AS, Deek H, Efficace F, El Nayal MA, El-Raey F, Ensaldo-Carrasco E, Escotorin P, Fadodun OA, Fawole IO, Goh YS, Irawan D, Khan NE, Koirala B, Krishna A, Kwok C, Le TT, Leal DG, Lezana-Fernández MÁ, Manirambona E, Mantoani LC, Meneses-González F, Mohamed IE, Mukeshimana M, Nguyen CTM, Nguyen HTT, Nguyen KT, Nguyen ST, Nurumal MS, Nzabonimana A, Omer NAMA, Ogungbe O, Poon ACY, Reséndiz-Rodriguez A, Puang-Ngern B, Sagun CG, Shaik RA, Shankar NG, Sommer K, Toro E, Tran HTH, Urgel EL, Uwiringiyimana E, Vanichbuncha T, Youssef N. Li J, et al. Among authors: nguyen st. J Glob Health. 2025 Jan 10;15:04011. doi: 10.7189/jogh.15.04011. J Glob Health. 2025. PMID: 39791329 Free PMC article.
2,445 results