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.
6. Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. Morimura H; Berson EL; Dryja TP Invest Ophthalmol Vis Sci; 1999 Apr; 40(5):1000-4. PubMed ID: 10102299 [TBL] [Abstract][Full Text] [Related]
7. Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26. Burstedt MS; Sandgren O; Holmgren G; Forsman-Semb K Invest Ophthalmol Vis Sci; 1999 Apr; 40(5):995-1000. PubMed ID: 10102298 [TBL] [Abstract][Full Text] [Related]
8. Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations. Burstedt M; Jonsson F; Köhn L; Burstedt M; Kivitalo M; Golovleva I Acta Ophthalmol; 2013 Aug; 91(5):437-44. PubMed ID: 22551409 [TBL] [Abstract][Full Text] [Related]
10. A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens. Demirci FY; Rigatti BW; Mah TS; Gorin MB Am J Ophthalmol; 2004 Jul; 138(1):171-3. PubMed ID: 15234312 [TBL] [Abstract][Full Text] [Related]
11. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Cremers FP; van de Pol DJ; van Driel M; den Hollander AI; van Haren FJ; Knoers NV; Tijmes N; Bergen AA; Rohrschneider K; Blankenagel A; Pinckers AJ; Deutman AF; Hoyng CB Hum Mol Genet; 1998 Mar; 7(3):355-62. PubMed ID: 9466990 [TBL] [Abstract][Full Text] [Related]
12. Novel mutations in MERTK associated with childhood onset rod-cone dystrophy. Mackay DS; Henderson RH; Sergouniotis PI; Li Z; Moradi P; Holder GE; Waseem N; Bhattacharya SS; Aldahmesh MA; Alkuraya FS; Meyer B; Webster AR; Moore AT Mol Vis; 2010 Mar; 16():369-77. PubMed ID: 20300561 [TBL] [Abstract][Full Text] [Related]
13. Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens. Humbert G; Delettre C; Sénéchal A; Bazalgette C; Barakat A; Bazalgette C; Arnaud B; Lenaers G; Hamel CP Invest Ophthalmol Vis Sci; 2006 Nov; 47(11):4719-24. PubMed ID: 17065479 [TBL] [Abstract][Full Text] [Related]
14. A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 ( Torres-Costa S; Ferreira CS; Grangeia A; Santos-Silva R; Brandão E; Estrela-Silva S; Falcão-Reis F Eur J Ophthalmol; 2021 May; 31(3):NP74-NP80. PubMed ID: 32345050 [TBL] [Abstract][Full Text] [Related]
15. Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families. Koenekoop RK; Loyer M; Hand CK; Al Mahdi H; Dembinska O; Beneish R; Racine J; Rouleau GA Am J Ophthalmol; 2003 Oct; 136(4):678-87. PubMed ID: 14516808 [TBL] [Abstract][Full Text] [Related]
16. Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases. Ullah I; Kabir F; Iqbal M; Gottsch CB; Naeem MA; Assir MZ; Khan SN; Akram J; Riazuddin S; Ayyagari R; Hejtmancik JF; Riazuddin SA Mol Vis; 2016; 22():797-815. PubMed ID: 27440997 [TBL] [Abstract][Full Text] [Related]
17. A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family. Abbasi AH; Garzozi HJ; Ben-Yosef T Mol Vis; 2008 Apr; 14():675-82. PubMed ID: 18432314 [TBL] [Abstract][Full Text] [Related]
18. Evaluation of RLBP1 in 50 autosomal recessive retinitis pigmentosa and 4 retinitis punctata albescens Spanish families. Bernal S; Calaf M; Adan A; Solans T; Valverde D; Ayuso C; Baiget M Ophthalmic Genet; 2001 Mar; 22(1):19-25. PubMed ID: 11262646 [TBL] [Abstract][Full Text] [Related]
19. Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens. Nakamura M; Lin J; Ito Y; Miyake Y Am J Ophthalmol; 2005 Jun; 139(6):1133-5. PubMed ID: 15953459 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]