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.
4. Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations. Renner AB; Fiebig BS; Weber BH; Wissinger B; Andreasson S; Gal A; Cropp E; Kohl S; Kellner U Am J Ophthalmol; 2009 Mar; 147(3):518-530.e1. PubMed ID: 19038374 [TBL] [Abstract][Full Text] [Related]
5. Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers. Shankar SP; Hughbanks-Wheaton DK; Birch DG; Sullivan LS; Conneely KN; Bowne SJ; Stone EM; Daiger SP Invest Ophthalmol Vis Sci; 2016 Feb; 57(2):349-59. PubMed ID: 26842753 [TBL] [Abstract][Full Text] [Related]
7. Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene. Michaelides M; Holder GE; Bradshaw K; Hunt DM; Moore AT Ophthalmology; 2005 Sep; 112(9):1592-8. PubMed ID: 16019073 [TBL] [Abstract][Full Text] [Related]
14. PRPH2-Associated Macular Dystrophy in 4 Family Members with a Novel Mutation. Choi H; Cloutier A; Lally D Ophthalmic Genet; 2022 Apr; 43(2):235-239. PubMed ID: 34906036 [TBL] [Abstract][Full Text] [Related]
15. ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype. Poloschek CM; Bach M; Lagrèze WA; Glaus E; Lemke JR; Berger W; Neidhardt J Invest Ophthalmol Vis Sci; 2010 Aug; 51(8):4253-65. PubMed ID: 20335603 [TBL] [Abstract][Full Text] [Related]
16. Quantitative Fundus Autofluorescence and Optical Coherence Tomography in PRPH2/RDS- and ABCA4-Associated Disease Exhibiting Phenotypic Overlap. Duncker T; Tsang SH; Woods RL; Lee W; Zernant J; Allikmets R; Delori FC; Sparrow JR Invest Ophthalmol Vis Sci; 2015 May; 56(5):3159-70. PubMed ID: 26024099 [TBL] [Abstract][Full Text] [Related]
17. Late-onset pattern macular dystrophy mimicking Ma CJ; Lee W; Stong N; Zernant J; Chang S; Goldstein D; Nagasaki T; Allikmets R Cold Spring Harb Mol Case Stud; 2019 Jun; 5(3):. PubMed ID: 30630813 [TBL] [Abstract][Full Text] [Related]
18. Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies. Shankar SP; Birch DG; Ruiz RS; Hughbanks-Wheaton DK; Sullivan LS; Bowne SJ; Stone EM; Daiger SP JAMA Ophthalmol; 2015 May; 133(5):511-7. PubMed ID: 25675413 [TBL] [Abstract][Full Text] [Related]
19. PRPH2-Associated Retinopathy: Novel Variants and Genotype-Phenotype Correlations. Bianco L; Arrigo A; Antropoli A; Saladino A; Spiga I; Patricelli MG; Bandello F; Carrera P; Battaglia Parodi M Ophthalmol Retina; 2023 May; 7(5):450-461. PubMed ID: 36563963 [TBL] [Abstract][Full Text] [Related]
20. PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation. Coco RM; Tellería JJ; Sanabria MR; Rodríguez-Rúa E; García MT Eur J Ophthalmol; 2010; 20(4):724-32. PubMed ID: 20213611 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]