These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. 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. Curr Eye Res; 2005 Dec; 30(12):1081-7. PubMed ID: 16354621 [Abstract] [Full Text] [Related]
3. Mutation screening of three candidate genes, ELOVL5, SMAP1 and GLULD1 in autosomal recessive retinitis pigmentosa. Barragan I, Marcos I, Borrego S, Antiñolo G. Int J Mol Med; 2005 Dec; 16(6):1163-7. PubMed ID: 16273301 [Abstract] [Full Text] [Related]
5. 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. Ann Hum Genet; 2008 Jan; 72(Pt 1):26-34. PubMed ID: 17803723 [Abstract] [Full Text] [Related]
6. Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. Clark GR, Crowe P, Muszynska D, O'Prey D, O'Neill J, Alexander S, Willoughby CE, McKay GJ, Silvestri G, Simpson DA. Ophthalmology; 2010 Nov; 117(11):2169-77.e3. PubMed ID: 20591486 [Abstract] [Full Text] [Related]
7. RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism. Al-Rashed M, Abu Safieh L, Alkuraya H, Aldahmesh MA, Alzahrani J, Diya M, Hashem M, Hardcastle AJ, Al-Hazzaa SA, Alkuraya FS. Br J Ophthalmol; 2012 Jul; 96(7):1018-22. PubMed ID: 22317909 [Abstract] [Full Text] [Related]
16. Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa. Booij JC, Florijn RJ, ten Brink JB, Loves W, Meire F, van Schooneveld MJ, de Jong PT, Bergen AA. J Med Genet; 2005 Nov; 42(11):e67. PubMed ID: 16272259 [Abstract] [Full Text] [Related]
17. Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa. Dryja TP, Rucinski DE, Chen SH, Berson EL. Invest Ophthalmol Vis Sci; 1999 Jul; 40(8):1859-65. PubMed ID: 10393062 [Abstract] [Full Text] [Related]
18. Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration. Gamundi MJ, Hernan I, Maseras M, Baiget M, Ayuso C, Borrego S, Antiñolo G, Millán JM, Valverde D, Carballo M. Mol Vis; 2005 Nov 02; 11():922-8. PubMed ID: 16280978 [Abstract] [Full Text] [Related]