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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1991 2
1992 3
1993 2
1995 3
1996 3
1997 2
1998 2
1999 2
2000 6
2001 5
2002 2
2003 2
2004 1
2005 6
2006 5
2007 7
2008 4
2009 1
2010 1
2011 1
2012 2
2013 2
2014 3
2016 1
2017 3
2019 1
2020 1
2021 4
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73 results
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Page 1
Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases.
Martin-Merida I, Avila-Fernandez A, Del Pozo-Valero M, Blanco-Kelly F, Zurita O, Perez-Carro R, Aguilera-Garcia D, Riveiro-Alvarez R, Arteche A, Trujillo-Tiebas MJ, Tahsin-Swafiri S, Rodriguez-Pinilla E, Lorda-Sanchez I, Garcia-Sandoval B, Corton M, Ayuso C. Martin-Merida I, et al. Among authors: lorda sanchez i. Ophthalmology. 2019 Aug;126(8):1181-1188. doi: 10.1016/j.ophtha.2019.03.018. Epub 2019 Mar 20. Ophthalmology. 2019. PMID: 30902645
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. Among authors: lorda sanchez i. Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y. Sci Rep. 2021. PMID: 33452396 Free PMC article.
Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants.
Del Pozo-Valero M, Riveiro-Alvarez R, Blanco-Kelly F, Aguirre-Lamban J, Martin-Merida I, Iancu IF, Swafiri S, Lorda-Sanchez I, Rodriguez-Pinilla E, Trujillo-Tiebas MJ, Jimenez-Rolando B, Carreño E, Mahillo-Fernandez I, Rivolta C, Corton M, Avila-Fernandez A, Garcia-Sandoval B, Ayuso C. Del Pozo-Valero M, et al. Among authors: lorda sanchez i. Am J Ophthalmol. 2020 Nov;219:195-204. doi: 10.1016/j.ajo.2020.06.027. Epub 2020 Jun 30. Am J Ophthalmol. 2020. PMID: 32619608 Free article.
Guidelines for genetic study of aniridia.
Blanco-Kelly F, Villaverde-Montero C, Lorda-Sánchez I, Millán JM, Trujillo-Tiebas MJ, Ayuso C. Blanco-Kelly F, et al. Among authors: lorda sanchez i. Arch Soc Esp Oftalmol. 2013 Apr;88(4):145-52. doi: 10.1016/j.oftal.2012.07.006. Epub 2012 Sep 25. Arch Soc Esp Oftalmol. 2013. PMID: 23597644 Review. English, Spanish.
[Holt-Oram syndrome: study of 7 cases].
Martínez-García M, Lorda-Sanchez I, García-Hoyos M, Ramos C, Ayuso C, Trujillo-Tiebas MJ. Martínez-García M, et al. Among authors: lorda sanchez i. Med Clin (Barc). 2010 Nov 13;135(14):653-7. doi: 10.1016/j.medcli.2010.04.013. Epub 2010 Jun 17. Med Clin (Barc). 2010. PMID: 21070912 Spanish.
Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.
Blanco-Kelly F, Palomares M, Vallespín E, Villaverde C, Martín-Arenas R, Vélez-Monsalve C, Lorda-Sánchez I, Nevado J, Trujillo-Tiebas MJ, Lapunzina P, Ayuso C, Corton M. Blanco-Kelly F, et al. Among authors: lorda sanchez i. PLoS One. 2017 Feb 23;12(2):e0172363. doi: 10.1371/journal.pone.0172363. eCollection 2017. PLoS One. 2017. PMID: 28231309 Free PMC article.
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
Xu M, Xie YA, Abouzeid H, Gordon CT, Fiorentino A, Sun Z, Lehman A, Osman IS, Dharmat R, Riveiro-Alvarez R, Bapst-Wicht L, Babino D, Arno G, Busetto V, Zhao L, Li H, Lopez-Martinez MA, Azevedo LF, Hubert L, Pontikos N, Eblimit A, Lorda-Sanchez I, Kheir V, Plagnol V, Oufadem M, Soens ZT, Yang L, Bole-Feysot C, Pfundt R, Allaman-Pillet N, Nitschké P, Cheetham ME, Lyonnet S, Agrawal SA, Li H, Pinton G, Michaelides M, Besmond C, Li Y, Yuan Z, von Lintig J, Webster AR, Le Hir H, Stoilov P; UK Inherited Retinal Dystrophy Consortium, Amiel J, Hardcastle AJ, Ayuso C, Sui R, Chen R, Allikmets R, Schorderet DF. Xu M, et al. Among authors: lorda sanchez i. Am J Hum Genet. 2017 Apr 6;100(4):592-604. doi: 10.1016/j.ajhg.2017.02.008. Epub 2017 Mar 9. Am J Hum Genet. 2017. PMID: 28285769 Free PMC article.
Proximal partial 5p trisomy resulting from a maternal (19;5) insertion.
Lorda-Sánchez I, Urioste M, Villa A, Carrascosa MC, Vázquez MS, Martínez A, Martínez-Frías ML. Lorda-Sánchez I, et al. Am J Med Genet. 1997 Feb 11;68(4):476-80. doi: 10.1002/(sici)1096-8628(19970211)68:4<476::aid-ajmg21>3.0.co;2-o. Am J Med Genet. 1997. PMID: 9021025 Review.
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