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Journal Abstract Search

401 related items for PubMed ID: 26822852

  • 1. Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness.
    Neuillé M, Malaichamy S, Vadalà M, Michiels C, Condroyer C, Sachidanandam R, Srilekha S, Arokiasamy T, Letexier M, Démontant V, Sahel JA, Sen P, Audo I, Soumittra N, Zeitz C.
    Clin Genet; 2016 Jun; 89(6):690-9. PubMed ID: 26822852
    [Abstract] [Full Text] [Related]

  • 2. 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; 137(1):57-62. PubMed ID: 30051303
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. [Overview of Congenital Stationary Night Blindness with Predominantly Normal Fundus Appearance].
    Zeitz C, Friedburg C, Preising MN, Lorenz B.
    Klin Monbl Augenheilkd; 2018 Mar 05; 235(3):281-289. PubMed ID: 29390235
    [Abstract] [Full Text] [Related]

  • 5. 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 Mar 05; 20():341-51. PubMed ID: 24715752
    [Abstract] [Full Text] [Related]

  • 6. Complete congenital stationary night blindness associated with a novel NYX variant (p.Asn216Lys) in middle-aged and older adult patients.
    Hayashi T, Murakami Y, Mizobuchi K, Koyanagi Y, Sonoda KH, Nakano T.
    Ophthalmic Genet; 2021 Aug 05; 42(4):412-419. PubMed ID: 33769208
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells.
    Smirnov VM, Robert MP, Condroyer C, Navarro J, Antonio A, Rozet JM, Sahel JA, Perrault I, Audo I, Zeitz C.
    JAMA Ophthalmol; 2022 Dec 01; 140(12):1163-1173. PubMed ID: 36264558
    [Abstract] [Full Text] [Related]

  • 9. A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness.
    Kondo M, Das G, Imai R, Santana E, Nakashita T, Imawaka M, Ueda K, Ohtsuka H, Sakai K, Aihara T, Kato K, Sugimoto M, Ueno S, Nishizawa Y, Aguirre GD, Miyadera K.
    PLoS One; 2015 Dec 01; 10(9):e0137072. PubMed ID: 26368928
    [Abstract] [Full Text] [Related]

  • 10. Congenital stationary night blindness with hypoplastic discs, negative electroretinogram and thinning of the inner nuclear layer.
    Al Oreany AA, Al Hadlaq A, Schatz P.
    Graefes Arch Clin Exp Ophthalmol; 2016 Oct 01; 254(10):1951-1956. PubMed ID: 27084085
    [Abstract] [Full Text] [Related]

  • 11. Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
    Zeitz C, Robson AG, Audo I.
    Prog Retin Eye Res; 2015 Mar 01; 45():58-110. PubMed ID: 25307992
    [Abstract] [Full Text] [Related]

  • 12. Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy.
    Hayashi T, Hosono K, Kurata K, Katagiri S, Mizobuchi K, Ueno S, Kondo M, Nakano T, Hotta Y.
    Doc Ophthalmol; 2020 Apr 01; 140(2):147-157. PubMed ID: 31583501
    [Abstract] [Full Text] [Related]

  • 13. 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 01; 8(9):932-941. PubMed ID: 38522615
    [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 01; 120(10):2072-81. PubMed ID: 23714322
    [Abstract] [Full Text] [Related]

  • 15. Pseudodominant inheritance of autosomal recessive congenital stationary night blindness in one family with three co-segregating deleterious GRM6 variants identified by next-generation sequencing.
    Liu HY, Huang J, Xiao H, Zhang MJ, Shi FF, Jiang YH, Du H, He Q, Wang ZY.
    Mol Genet Genomic Med; 2019 Dec 01; 7(12):e952. PubMed ID: 31677249
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness.
    Naeem MA, Gottsch AD, Ullah I, Khan SN, Husnain T, Butt NH, Qazi ZA, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA.
    Mol Vis; 2015 Nov 29; 21():1261-71. PubMed ID: 26628857
    [Abstract] [Full Text] [Related]

  • 18. The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA.
    Men CJ, Bujakowska KM, Comander J, Place E, Bedoukian EC, Zhu X, Leroy BP, Fulton AB, Pierce EA.
    Mol Vis; 2017 Nov 29; 23():695-706. PubMed ID: 29062221
    [Abstract] [Full Text] [Related]

  • 19. TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations.
    AlTalbishi A, Zelinger L, Zeitz C, Hendler K, Namburi P, Audo I, Sheffer R, Yahalom C, Khateb S, Banin E, Sharon D.
    Sci Rep; 2019 Aug 19; 9(1):12047. PubMed ID: 31427709
    [Abstract] [Full Text] [Related]

  • 20. [Clinical features of congenital stationary night blindness].
    Li H, Liu LY, Xu HY, Xu F, Jiang RX, Sui RF.
    Zhonghua Yi Xue Za Zhi; 2012 Oct 23; 92(39):2756-9. PubMed ID: 23290162
    [Abstract] [Full Text] [Related]

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