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Journal Abstract Search
376 related items for PubMed ID: 27063057
1. Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness. Vincent A, Audo I, Tavares E, Maynes JT, Tumber A, Wright T, Li S, Michiels C, GNB3 Consortium, Condroyer C, MacDonald H, Verdet R, Sahel JA, Hamel CP, Zeitz C, Héon E. Am J Hum Genet; 2016 May 05; 98(5):1011-1019. PubMed ID: 27063057 [Abstract] [Full Text] [Related]
3. Riggs-type dominant congenital stationary night blindness: ERG findings, a new GNAT1 mutation and a systemic association. Marmor MF, Zeitz C. Doc Ophthalmol; 2018 Aug 05; 137(1):57-62. PubMed ID: 30051303 [Abstract] [Full Text] [Related]
6. Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness. Dan H, Song X, Li J, Xing Y, Li T. Ophthalmic Genet; 2017 Aug 05; 38(3):206-210. PubMed ID: 27428514 [Abstract] [Full Text] [Related]
7. Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort. Malaichamy S, Sen P, Sachidanandam R, Arokiasamy T, Lancelot ME, Audo I, Zeitz C, Soumittra N. Mol Vis; 2014 Aug 05; 20():341-51. PubMed ID: 24715752 [Abstract] [Full Text] [Related]
14. Genotype and phenotype of 101 dutch patients with congenital stationary night blindness. Bijveld MM, Florijn RJ, Bergen AA, van den Born LI, Kamermans M, Prick L, Riemslag FC, van Schooneveld MJ, Kappers AM, van Genderen MM. Ophthalmology; 2013 Oct 05; 120(10):2072-81. PubMed ID: 23714322 [Abstract] [Full Text] [Related]
18. Congenital Stationary Night Blindness: Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients. Katta M, de Guimaraes TAC, Fujinami-Yokokawa Y, Fujinami K, Georgiou M, Mahroo OA, Webster AR, Michaelides M. Ophthalmol Retina; 2024 Sep 05; 8(9):932-941. PubMed ID: 38522615 [Abstract] [Full Text] [Related]
19. A truncated form of rod photoreceptor PDE6 β-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit. Manes G, Cheguru P, Majumder A, Bocquet B, Sénéchal A, Artemyev NO, Hamel CP, Brabet P. PLoS One; 2014 Sep 05; 9(4):e95768. PubMed ID: 24760071 [Abstract] [Full Text] [Related]
20. Congenital Stationary Night Blindness: Clinical and Genetic Features. Kim AH, Liu PK, Chang YH, Kang EY, Wang HH, Chen N, Tseng YJ, Seo GH, Lee H, Liu L, Chao AN, Chen KJ, Hwang YS, Wu WC, Lai CC, Tsang SH, Hsiao MC, Wang NK. Int J Mol Sci; 2022 Nov 29; 23(23):. PubMed ID: 36499293 [Abstract] [Full Text] [Related] Page: [Next] [New Search]