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Page 1
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y.
Sci Rep. 2021.
PMID: 33452396
Free PMC article.
Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa.
Corton M, Avila-Fernández A, Campello L, Sánchez M, Benavides B, López-Molina MI, Fernández-Sánchez L, Sánchez-Alcudia R, da Silva LRJ, Reyes N, Martín-Garrido E, Zurita O, Fernández-San José P, Pérez-Carro R, García-García F, Dopazo J, García-Sandoval B, Cuenca N, Ayuso C.
Corton M, et al. Among authors: da silva lrj.
Sci Rep. 2016 Oct 13;6:35370. doi: 10.1038/srep35370.
Sci Rep. 2016.
PMID: 27734943
Free PMC article.
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New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
Ceroni F, Aguilera-Garcia D, Chassaing N, Bax DA, Blanco-Kelly F, Ramos P, Tarilonte M, Villaverde C, da Silva LRJ, Ballesta-Martínez MJ, Sanchez-Soler MJ, Holt RJ, Cooper-Charles L, Bruty J, Wallis Y, McMullan D, Hoffman J, Bunyan D, Stewart A, Stewart H, Lachlan K; DDD Study; Fryer A, McKay V, Roume J, Dureau P, Saggar A, Griffiths M, Calvas P, Ayuso C, Corton M, Ragge NK.
Ceroni F, et al. Among authors: da silva lrj.
Hum Genet. 2019 Sep;138(8-9):1027-1042. doi: 10.1007/s00439-018-1875-2. Epub 2018 Feb 20.
Hum Genet. 2019.
PMID: 29464339
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Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, Carreño E, Jimenez-Rolando B, Lopez-Rodriguez R, Lorda-Sanchez I, Martin-Merida I, Pérez de Ayala L, Riveiro-Alvarez R, Rodriguez-Pinilla E, Tahsin-Swafiri S, Trujillo-Tiebas MJ; ESRETNET Study Group; ERDC Study Group; Associated Clinical Study Group; Garcia-Sandoval B, Minguez P, Avila-Fernandez A, Corton M, Ayuso C.
Perea-Romero I, et al.
Sci Rep. 2021 May 10;11(1):10340. doi: 10.1038/s41598-021-89275-4.
Sci Rep. 2021.
PMID: 33972629
Free PMC article.
No abstract available.
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Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.
Avila-Fernandez A, Perez-Carro R, Corton M, Lopez-Molina MI, Campello L, Garanto A, Fernandez-Sanchez L, Duijkers L, Lopez-Martinez MA, Riveiro-Alvarez R, Da Silva LR, Sanchez-Alcudia R, Martin-Garrido E, Reyes N, Garcia-Garcia F, Dopazo J, Garcia-Sandoval B, Collin RW, Cuenca N, Ayuso C.
Avila-Fernandez A, et al.
Hum Mol Genet. 2015 Jul 15;24(14):4037-48. doi: 10.1093/hmg/ddv140. Epub 2015 Apr 16.
Hum Mol Genet. 2015.
PMID: 25882705
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Spinal muscular atrophy due to a "de novo" 1.3 Mb deletion: implication for genetic counseling.
da Silva LR, Colovati ME, Coprerski B, de Andrade CE, Zanoteli E, Raskin S, Oliveira MM, Melaragno MI, Perez AB.
da Silva LR, et al.
Neuromuscul Disord. 2013 May;23(5):388-90. doi: 10.1016/j.nmd.2013.01.009. Epub 2013 Mar 1.
Neuromuscul Disord. 2013.
PMID: 23453857
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Relationship between polymorphisms in genes involved in homocysteine metabolism and maternal risk for Down syndrome in Brazil.
da Silva LR, Vergani N, Galdieri Lde C, Ribeiro Porto MP, Longhitano SB, Brunoni D, D'Almeida V, Alvarez Perez AB.
da Silva LR, et al.
Am J Med Genet A. 2005 Jun 15;135(3):263-7. doi: 10.1002/ajmg.a.30591.
Am J Med Genet A. 2005.
PMID: 15889417
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