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4. A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa. Grover S, Fishman GA, Stone EM. Ophthalmology; 2004 Oct; 111(10):1910-6. PubMed ID: 15465556 [Abstract] [Full Text] [Related]
5. Ocular findings associated with a rhodopsin gene codon 58 transversion mutation in autosomal dominant retinitis pigmentosa. Fishman GA, Stone EM, Gilbert LD, Kenna P, Sheffield VC. Arch Ophthalmol; 1991 Oct; 109(10):1387-93. PubMed ID: 1929926 [Abstract] [Full Text] [Related]
12. Ocular findings in a family with autosomal dominant retinitis pigmentosa and a frameshift mutation altering the carboxyl terminal sequence of rhodopsin. Apfelstedt-Sylla E, Kunisch M, Horn M, Rüther K, Gerding H, Gal A, Zrenner E. Br J Ophthalmol; 1993 Aug 15; 77(8):495-501. PubMed ID: 8025047 [Abstract] [Full Text] [Related]
17. Concentric retinitis pigmentosa: clinicopathologic correlations. Milam AH, De Castro EB, Smith JE, Tang WX, John SK, Gorin MB, Stone EM, Aguirre GD, Jacobson SG. Exp Eye Res; 2001 Oct 15; 73(4):493-508. PubMed ID: 11825021 [Abstract] [Full Text] [Related]
18. Dominant retinitis pigmentosa. A clinicopathologic correlation. Meyer KT, Heckenlively JR, Spitznas M, Foos RY. Ophthalmology; 1982 Dec 15; 89(12):1414-24. PubMed ID: 6984501 [Abstract] [Full Text] [Related]
19. Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes. Neidhardt J, Barthelmes D, Farahmand F, Fleischhauer JC, Berger W. Invest Ophthalmol Vis Sci; 2006 Apr 15; 47(4):1630-5. PubMed ID: 16565402 [Abstract] [Full Text] [Related]
20. Clinical features of Japanese family with autosomal dominant retinitis pigmentosa caused by point mutation in codon 347 of rhodopsin gene. Shiono T, Hotta Y, Noro M, Sakuma T, Tamai M, Hayakawa M, Hashimoto T, Fujiki K, Kanai A, Nakajima A. Jpn J Ophthalmol; 1992 Apr 15; 36(1):69-75. PubMed ID: 1635298 [Abstract] [Full Text] [Related] Page: [Next] [New Search]