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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
The Role of Artificial Intelligence in Accelerating Vaccine Development: Challenges and Opportunities in Pandemic Preparedness.
Barreto MDS, Correa AKS, Santos RS, Silva EED, Silva DMRR, Moura PHM, Jesus PC, Souza JB, Santana LADM, Gopalsamy RG, Hariharan G, Guimarães AG, Borges LP. Barreto MDS, et al. Among authors: silva eed. Int J Health Plann Manage. 2024 Nov 6. doi: 10.1002/hpm.3870. Online ahead of print. Int J Health Plann Manage. 2024. PMID: 39505723
Optimization, structural characterization, and biological applications of exopolysaccharide produced by Enterococcus faecium KT990028.
de Brito LP, da Silva EC, Lins LF, de Severo Medeiros R, Silva FCO, Pastrana L, Cavalcanti IDL, de Britto Lira-Nogueira MC, Cavalcanti MTH, Porto ALF. de Brito LP, et al. Among authors: da silva ec. Int J Biol Macromol. 2024 Oct 30:136926. doi: 10.1016/j.ijbiomac.2024.136926. Online ahead of print. Int J Biol Macromol. 2024. PMID: 39486715
Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network.
de Oliveira BM, Bernardi FA, Baiochi JF, Neiva MB, Artifon M, Vergara AA, Martins AM, Grumach AS, Acosta AX, Husny ASE, de Freitas Rodrigues Ribeiro B, Ramos CF, Steiner CE, Kim CA, Christofolini DM, Yamada DB, Carvalho EDF, Ribeiro EM, de Arruda Bastos F, Serpa FS, Brandão FR, Adjuto GMAF, Carvalho I, Saute JAM, Junior JCL, Bueno LSM, da Silva LCS, Santos MLSF, Costa MCM, Giusti MMCG, Galera MF, Filho MEC, de Andrade MDFC, De Oliveira Cardoso MT, de Menezes Ferreira MM, Zeny M, Caldato MCF, Sorte NB, Musolino NRC, de Medeiros PFV, Zen PRG, Da Silva RTB, Maia RE, Fock R, Almeida RES, Valle SOR, Amorim T, Teixeira TB, Prazeres VMG, de Faria Ferraz VE, Lima VC, Paiva WJM, Schwartz IVD, Alves D, Félix TM; Raras Network Group. de Oliveira BM, et al. Orphanet J Rare Dis. 2024 Oct 30;19(1):405. doi: 10.1186/s13023-024-03392-7. Orphanet J Rare Dis. 2024. PMID: 39478612 Free PMC article.
6,440 results