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267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation.
Dopazo J, Amadoz A, Bleda M, Garcia-Alonso L, Alemán A, García-García F, Rodriguez JA, Daub JT, Muntané G, Rueda A, Vela-Boza A, López-Domingo FJ, Florido JP, Arce P, Ruiz-Ferrer M, Méndez-Vidal C, Arnold TE, Spleiss O, Alvarez-Tejado M, Navarro A, Bhattacharya SS, Borrego S, Santoyo-López J, Antiñolo G. Dopazo J, et al. Among authors: bhattacharya ss. Mol Biol Evol. 2016 May;33(5):1205-18. doi: 10.1093/molbev/msw005. Epub 2016 Jan 13. Mol Biol Evol. 2016. PMID: 26764160 Free PMC article.
A map of human microRNA variation uncovers unexpectedly high levels of variability.
Carbonell J, Alloza E, Arce P, Borrego S, Santoyo J, Ruiz-Ferrer M, Medina I, Jiménez-Almazán J, Méndez-Vidal C, González-Del Pozo M, Vela A, Bhattacharya SS, Antiñolo G, Dopazo J. Carbonell J, et al. Among authors: bhattacharya ss. Genome Med. 2012 Aug 24;4(8):62. doi: 10.1186/gm363. eCollection 2012. Genome Med. 2012. PMID: 22906193 Free PMC article.
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.
Barragán I, Borrego S, Pieras JI, González-del Pozo M, Santoyo J, Ayuso C, Baiget M, Millan JM, Mena M, Abd El-Aziz MM, Audo I, Zeitz C, Littink KW, Dopazo J, Bhattacharya SS, Antiñolo G. Barragán I, et al. Among authors: bhattacharya ss. Hum Mutat. 2010 Nov;31(11):E1772-800. doi: 10.1002/humu.21334. Hum Mutat. 2010. PMID: 21069908 Free PMC article.
Copy-number variations in EYS: a significant event in the appearance of arRP.
Pieras JI, Barragán I, Borrego S, Audo I, González-Del Pozo M, Bernal S, Baiget M, Zeitz C, Bhattacharya SS, Antiñolo G. Pieras JI, et al. Among authors: bhattacharya ss. Invest Ophthalmol Vis Sci. 2011 Jul 29;52(8):5625-31. doi: 10.1167/iovs.11-7292. Invest Ophthalmol Vis Sci. 2011. PMID: 21519034 Free article.
Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa.
Abd El-Aziz MM, O'Driscoll CA, Kaye RS, Barragan I, El-Ashry MF, Borrego S, Antiñolo G, Pang CP, Webster AR, Bhattacharya SS. Abd El-Aziz MM, et al. Among authors: bhattacharya ss. Invest Ophthalmol Vis Sci. 2010 Aug;51(8):4266-72. doi: 10.1167/iovs.09-5109. Epub 2010 Mar 17. Invest Ophthalmol Vis Sci. 2010. PMID: 20237254
Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.
Abd El-Aziz MM, Barragan I, O'Driscoll C, Borrego S, Abu-Safieh L, Pieras JI, El-Ashry MF, Prigmore E, Carter N, Antinolo G, Bhattacharya SS. Abd El-Aziz MM, et al. Among authors: bhattacharya ss. Ann Hum Genet. 2008 Jul;72(Pt 4):463-77. doi: 10.1111/j.1469-1809.2008.00455.x. Epub 2007 May 29. Ann Hum Genet. 2008. PMID: 18510646 Free PMC article.
437 results