Barragan I - Search Results

1

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: barragan i. 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

2

A novel genetic study of Chinese families with autosomal recessive retinitis pigmentosa.

Abd El-Aziz MM, El-Ashry MF, Chan WM, Chong KL, Barragan I, Antiñolo G, Pang CP, Bhattacharya SS. Abd El-Aziz MM, et al. Among authors: barragan i. Ann Hum Genet. 2007 May;71(Pt 3):281-94. doi: 10.1111/j.1469-1809.2006.00333.x. Epub 2006 Nov 29. Ann Hum Genet. 2007. PMID: 17156103

3

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: barragan i. 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.

4

Exclusion of four candidate genes, KHDRBS2, PTP4A1, KIAA1411 and OGFRL1, as causative of autosomal recessive retinitis pigmentosa.

Abd El-Aziz MM, Patel RJ, El-Ashry MF, Barragan I, Marcos I, Borrego S, Antiñolo G, Bhattacharya SS. Abd El-Aziz MM, et al. Among authors: barragan i. Ophthalmic Res. 2006;38(1):19-23. doi: 10.1159/000088493. Epub 2005 Sep 23. Ophthalmic Res. 2006. PMID: 16192744

5

Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus.

Abd El-Aziz MM, El-Ashry MF, Barragan I, Marcos I, Borrego S, Antiñolo G, Bhattacharya SS. Abd El-Aziz MM, et al. Among authors: barragan i. Curr Eye Res. 2005 Dec;30(12):1081-7. doi: 10.1080/02713680500351039. Curr Eye Res. 2005. PMID: 16354621

6

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.

Abd El-Aziz MM, Barragan I, O'Driscoll CA, Goodstadt L, Prigmore E, Borrego S, Mena M, Pieras JI, El-Ashry MF, Safieh LA, Shah A, Cheetham ME, Carter NP, Chakarova C, Ponting CP, Bhattacharya SS, Antinolo G. Abd El-Aziz MM, et al. Among authors: barragan i. Nat Genet. 2008 Nov;40(11):1285-7. doi: 10.1038/ng.241. Epub 2008 Oct 5. Nat Genet. 2008. PMID: 18836446 Free PMC article.

7

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: barragan i. 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.

8

Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRs.

Barragán I, Borrego S, Abd El-Aziz MM, El-Ashry MF, Abu-Safieh L, Bhattacharya SS, Antiñolo G. Barragán I, et al. Ann Hum Genet. 2008 Jan;72(Pt 1):26-34. doi: 10.1111/j.1469-1809.2007.00393.x. Epub 2007 Sep 5. Ann Hum Genet. 2008. PMID: 17803723

9

Molecular analysis of RIM1 in autosomal recessive Retinitis pigmentosa.

Barragan I, Marcos I, Borrego S, Antiñolo G. Barragan I, et al. Ophthalmic Res. 2005 Mar-Apr;37(2):89-93. doi: 10.1159/000084250. Epub 2005 Mar 3. Ophthalmic Res. 2005. PMID: 15746564

10

Mutation screening of three candidate genes, ELOVL5, SMAP1 and GLULD1 in autosomal recessive retinitis pigmentosa.

Barragan I, Marcos I, Borrego S, Antiñolo G. Barragan I, et al. Int J Mol Med. 2005 Dec;16(6):1163-7. Int J Mol Med. 2005. PMID: 16273301

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