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Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
Perrault I, Hanein S, Zanlonghi X, Serre V, Nicouleau M, Defoort-Delhemmes S, Delphin N, Fares-Taie L, Gerber S, Xerri O, Edelson C, Goldenberg A, Duncombe A, Le Meur G, Hamel C, Silva E, Nitschke P, Calvas P, Munnich A, Roche O, Dollfus H, Kaplan J, Rozet JM. Perrault I, et al. Among authors: silva e. Nat Genet. 2012 Sep;44(9):975-7. doi: 10.1038/ng.2357. Epub 2012 Jul 29. Nat Genet. 2012. PMID: 22842229
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
Perrault I, Saunier S, Hanein S, Filhol E, Bizet AA, Collins F, Salih MA, Gerber S, Delphin N, Bigot K, Orssaud C, Silva E, Baudouin V, Oud MM, Shannon N, Le Merrer M, Roche O, Pietrement C, Goumid J, Baumann C, Bole-Feysot C, Nitschke P, Zahrate M, Beales P, Arts HH, Munnich A, Kaplan J, Antignac C, Cormier-Daire V, Rozet JM. Perrault I, et al. Among authors: silva e. Am J Hum Genet. 2012 May 4;90(5):864-70. doi: 10.1016/j.ajhg.2012.03.006. Epub 2012 Apr 12. Am J Hum Genet. 2012. PMID: 22503633 Free PMC article.
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
Fares-Taie L, Gerber S, Chassaing N, Clayton-Smith J, Hanein S, Silva E, Serey M, Serre V, Gérard X, Baumann C, Plessis G, Demeer B, Brétillon L, Bole C, Nitschke P, Munnich A, Lyonnet S, Calvas P, Kaplan J, Ragge N, Rozet JM. Fares-Taie L, et al. Among authors: silva e. Am J Hum Genet. 2013 Feb 7;92(2):265-70. doi: 10.1016/j.ajhg.2012.12.003. Epub 2013 Jan 9. Am J Hum Genet. 2013. PMID: 23312594 Free PMC article.
Mutational analysis and clinical correlation in Leber congenital amaurosis.
Dharmaraj SR, Silva ER, Pina AL, Li YY, Yang JM, Carter CR, Loyer MK, El-Hilali HK, Traboulsi EK, Sundin OK, Zhu DK, Koenekoop RK, Maumenee IH. Dharmaraj SR, et al. Among authors: silva er. Ophthalmic Genet. 2000 Sep;21(3):135-50. Ophthalmic Genet. 2000. PMID: 11035546
Assessing tafenoquine implementation in Brazil: a qualitative evaluation of perceptions of healthcare providers and Plasmodium vivax patients (QualiTRuST Study).
Santos APC, Brito MAM, Oliveira APS, Dávila RN, Gama HSS, Silva EART, Amazonas HA Jr, Balieiro PCS, Rufatto R, Grewal Daumerie P, Peterka CRL, Batista Pereira D, Lacerda MVG, Murta FLG. Santos APC, et al. Among authors: silva eart. Malar J. 2024 Dec 23;23(1):399. doi: 10.1186/s12936-024-05209-1. Malar J. 2024. PMID: 39716245
Potential of a newly isolated lytic bacteriophage to control Pseudomonas coronafaciens pv. garcae in coffee plants: Molecular characterization with in vitro and ex vivo experiments.
Mota LC, Silva EC, Quinde CA, Cieza B, Basu A, Rodrigues LMR, Vila MMDC, Balcão VM. Mota LC, et al. Among authors: silva ec. Enzyme Microb Technol. 2024 Dec 15;184:110573. doi: 10.1016/j.enzmictec.2024.110573. Online ahead of print. Enzyme Microb Technol. 2024. PMID: 39700746
Educational technology to empower patients as participants in their care.
Ramos RDS, Aguiar MF, Silva ECGD, Caetano CM, Pina RMP, Neves JC, Oliveira HM. Ramos RDS, et al. Among authors: silva ecgd. Rev Bras Enferm. 2024 Dec 16;77(6):e20230359. doi: 10.1590/0034-7167-2023-0359. eCollection 2024. Rev Bras Enferm. 2024. PMID: 39699357 Free PMC article.
6,495 results