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2. 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]
3. Identification of a polymorphic missense (G338D) and silent (106V and 121L) mutations within the coding region of the peripherin/RDS gene in a patient with retinitis punctata albescens. Shastry BS; Trese MT Biochem Biophys Res Commun; 1997 Feb; 231(1):103-5. PubMed ID: 9070228 [TBL] [Abstract][Full Text] [Related]
4. 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]
5. A multimodal study and management of retinitis punctata albescens. Espinosa-Barberi G; Galván González JF; Viera Peláez D Rom J Ophthalmol; 2020; 64(2):213-216. PubMed ID: 32685789 [No Abstract] [Full Text] [Related]
6. A NOVEL LARGE HOMOZYGOUS DELETION IN THE CELLULAR RETINALDEHYDE-BINDING PROTEIN GENE (RLBP1) IN A PATIENT WITH RETINITIS PUNCTATA ALBESCENS. Bagheri S; Pantrangi M; Sodhi SK; Bagheri S; Oellers P; Scholl HPN Retin Cases Brief Rep; 2020; 14(1):85-89. PubMed ID: 28827498 [TBL] [Abstract][Full Text] [Related]
7. Retinitis punctata albescens. BEDELL AJ Trans Am Ophthalmol Soc; 1949; 47():262-75. PubMed ID: 15418599 [No Abstract] [Full Text] [Related]
8. Retinitis punctata albescens; a functional and diagnostic evaluation. SMITH BF; RIPPS H; GOODMAN G AMA Arch Ophthalmol; 1959 Jan; 61(1):93-101. PubMed ID: 13605343 [No Abstract] [Full Text] [Related]
9. [Retinitis Punctata albescens and hirsutism]. Ardouin M; Vivien P; Catros A; Gouffault J; Tomasini Rev Otoneuroophtalmol; 1958; 30(4):249-52. PubMed ID: 13602452 [No Abstract] [Full Text] [Related]
14. Retinitis punctata albescens. A functional evaluation of an unusual case. KRILL AE; FOLK MR Am J Ophthalmol; 1962 Mar; 53():450-5. PubMed ID: 14459667 [No Abstract] [Full Text] [Related]
15. [Further contribution to the question of the genetic relationships between Friedreich's ataxia and the different forms of tapeto-retinal degeneration (retinitis pigmentosa and retinitis punctata albescens in two related groups of the Friedreich family of Glaser)]. FRANCESCHETTI A; KLEIN D Arch Julius Klaus Stift Vererbungsforsch Sozialanthropol Rassenhyg; 1947; 22(1-2):93-121. PubMed ID: 20269277 [No Abstract] [Full Text] [Related]
16. [Retinitis punctata albescens]. Ramdani T; Sekhsoukh R Pan Afr Med J; 2016; 25():39. PubMed ID: 28154728 [No Abstract] [Full Text] [Related]
17. 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]
18. [A case of retinitis punctata albescens considerably improved by placental therapy]. BELICARD P Bull Soc Ophtalmol Fr; 1954 Mar; 3():246-8. PubMed ID: 13182543 [No Abstract] [Full Text] [Related]
19. [Case of retinitis punctata albescens in a boy and degeneratio pigmentosa retinae sine pigmento in his sister]. KUROZUMI I; OHARA M; YASUI T; MATUNO C Rinsho Ganka; 1963 Feb; 17():177-80. PubMed ID: 13927550 [No Abstract] [Full Text] [Related]
20. Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. Souied E; Soubrane G; Benlian P; Coscas GJ; Gerber S; Munnich A; Kaplan J Am J Ophthalmol; 1996 Jan; 121(1):19-25. PubMed ID: 8554077 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]