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Journal Abstract Search

448 related items for PubMed ID: 26368928

  • 21. 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; 254(10):1951-1956. PubMed ID: 27084085
    [Abstract] [Full Text] [Related]

  • 22. A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.
    Vincent A, Wright T, Day MA, Westall CA, Héon E.
    Mol Vis; 2011 Oct; 17():3262-70. PubMed ID: 22194652
    [Abstract] [Full Text] [Related]

  • 23. Intravitreal delivery of a novel AAV vector targets ON bipolar cells and restores visual function in a mouse model of complete congenital stationary night blindness.
    Scalabrino ML, Boye SL, Fransen KM, Noel JM, Dyka FM, Min SH, Ruan Q, De Leeuw CN, Simpson EM, Gregg RG, McCall MA, Peachey NS, Boye SE.
    Hum Mol Genet; 2015 Nov 01; 24(21):6229-39. PubMed ID: 26310623
    [Abstract] [Full Text] [Related]

  • 24. [Overview of Congenital Stationary Night Blindness with Predominantly Normal Fundus Appearance].
    Zeitz C, Friedburg C, Preising MN, Lorenz B.
    Klin Monbl Augenheilkd; 2018 Mar 01; 235(3):281-289. PubMed ID: 29390235
    [Abstract] [Full Text] [Related]

  • 25. Novel frameshift mutation in NYX gene in a Russian family with complete congenital stationary night blindness.
    Ivanova ME, Zolnikova IV, Gorgisheli KV, Atarshchikov DS, Ghosh P, Barh D.
    Ophthalmic Genet; 2019 Dec 01; 40(6):558-563. PubMed ID: 31826698
    [Abstract] [Full Text] [Related]

  • 26. 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 Dec 01; 20():341-51. PubMed ID: 24715752
    [Abstract] [Full Text] [Related]

  • 27.
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  • 28. 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 Dec 01; 21():1261-71. PubMed ID: 26628857
    [Abstract] [Full Text] [Related]

  • 29. [Establishment of the concept of new clinical entities--complete and incomplete form of congenital stationary night blindness].
    Miyake Y.
    Nippon Ganka Gakkai Zasshi; 2002 Dec 01; 106(12):737-55; discussion 756. PubMed ID: 12610835
    [Abstract] [Full Text] [Related]

  • 30. A New Mouse Model for Complete Congenital Stationary Night Blindness Due to Gpr179 Deficiency.
    Orhan E, Neuillé M, de Sousa Dias M, Pugliese T, Michiels C, Condroyer C, Antonio A, Sahel JA, Audo I, Zeitz C.
    Int J Mol Sci; 2021 Apr 23; 22(9):. PubMed ID: 33922602
    [Abstract] [Full Text] [Related]

  • 31. 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 23; 8(9):932-941. PubMed ID: 38522615
    [Abstract] [Full Text] [Related]

  • 32. Zebrafish Cacna1fa is required for cone photoreceptor function and synaptic ribbon formation.
    Jia S, Muto A, Orisme W, Henson HE, Parupalli C, Ju B, Baier H, Taylor MR.
    Hum Mol Genet; 2014 Jun 01; 23(11):2981-94. PubMed ID: 24419318
    [Abstract] [Full Text] [Related]

  • 33. Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia.
    Almutairi F, Almeshari N, Ahmad K, Magliyah MS, Schatz P.
    Acta Ophthalmol; 2021 Sep 01; 99(6):581-591. PubMed ID: 33369259
    [Abstract] [Full Text] [Related]

  • 34. Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness.
    Dai S, Ying M, Wang K, Wang L, Han R, Hao P, Li N.
    Sci Rep; 2015 Aug 03; 5():12679. PubMed ID: 26234941
    [Abstract] [Full Text] [Related]

  • 35. 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 03; 45():58-110. PubMed ID: 25307992
    [Abstract] [Full Text] [Related]

  • 36. Long-term follow-up of retinal function and structure in TRPM1-associated complete congenital stationary night blindness.
    Al-Hujaili H, Taskintuna I, Neuhaus C, Bergmann C, Schatz P.
    Mol Vis; 2019 Mar 03; 25():851-858. PubMed ID: 31908403
    [Abstract] [Full Text] [Related]

  • 37. Congenital stationary night blindness associated with morning glory disc malformation: a novel hemizygous mutation in CACNA1F.
    Abdelkader E, AlHilali S, Neuhaus C, Bergmann C, AlMurshed T, Schatz P.
    Ophthalmic Genet; 2018 Oct 03; 39(5):659-661. PubMed ID: 30067413
    [No Abstract] [Full Text] [Related]

  • 38. Restoration of mGluR6 Localization Following AAV-Mediated Delivery in a Mouse Model of Congenital Stationary Night Blindness.
    Varin J, Bouzidi N, Dias MMS, Pugliese T, Michiels C, Robert C, Desrosiers M, Sahel JA, Audo I, Dalkara D, Zeitz C.
    Invest Ophthalmol Vis Sci; 2021 Mar 01; 62(3):24. PubMed ID: 33729473
    [Abstract] [Full Text] [Related]

  • 39. 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]

  • 40. Cav1.4 dysfunction and congenital stationary night blindness type 2.
    Koschak A, Fernandez-Quintero ML, Heigl T, Ruzza M, Seitter H, Zanetti L.
    Pflugers Arch; 2021 Sep 01; 473(9):1437-1454. PubMed ID: 34212239
    [Abstract] [Full Text] [Related]

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