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Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.
Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS. Chakarova CF, et al. Among authors: bhattacharya ss. Hum Mol Genet. 2002 Jan 1;11(1):87-92. doi: 10.1093/hmg/11.1.87. Hum Mol Genet. 2002. PMID: 11773002
An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.
Henderson RH, Waseem N, Searle R, van der Spuy J, Russell-Eggitt I, Bhattacharya SS, Thompson DA, Holder GE, Cheetham ME, Webster AR, Moore AT. Henderson RH, et al. Among authors: bhattacharya ss. Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5684-9. doi: 10.1167/iovs.07-0207. Invest Ophthalmol Vis Sci. 2007. PMID: 18055820 Free article.
Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.
Towns KV, Kipioti A, Long V, McKibbin M, Maubaret C, Vaclavik V, Ehsani P, Springell K, Kamal M, Ramesar RS, Mackey DA, Moore AT, Mukhopadhyay R, Webster AR, Black GC, O'Sullivan J, Bhattacharya SS, Pierce EA, Beggs JD, Inglehearn CF. Towns KV, et al. Among authors: bhattacharya ss. Hum Mutat. 2010 May;31(5):E1361-76. doi: 10.1002/humu.21236. Hum Mutat. 2010. PMID: 20232351 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
461 results