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Journal Abstract Search

208 related items for PubMed ID: 33769208

  • 1. 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; 42(4):412-419. PubMed ID: 33769208
    [Abstract] [Full Text] [Related]

  • 2. 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; 140(2):147-157. PubMed ID: 31583501
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. Electroretinographic findings in a patient with congenital stationary night blindness due to a novel NYX mutation.
    McAnany JJ, Alexander KR, Kumar NM, Ying H, Anastasakis A, Fishman GA.
    Ophthalmic Genet; 2013 Sep; 34(3):167-73. PubMed ID: 23289809
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Novel biallelic TRPM1 variants in an elderly patient with complete congenital stationary night blindness.
    Hayashi T, Mizobuchi K, Kikuchi S, Nakano T.
    Doc Ophthalmol; 2021 Apr; 142(2):265-273. PubMed ID: 33068213
    [Abstract] [Full Text] [Related]

  • 7. NYX-related Congenital Stationary Night Blindness in Two Siblings due to Probable Maternal Germline Mosaicism.
    Scanga HL, Liasis A, Pihlblad MS, Nischal KK.
    Ophthalmic Genet; 2021 Oct; 42(5):588-592. PubMed ID: 34165036
    [Abstract] [Full Text] [Related]

  • 8. Retinal findings in a patient of French ancestry with CABP4-related retinal disease.
    Smirnov VM, Zeitz C, Soumittra N, Audo I, Defoort-Dhellemmes S.
    Doc Ophthalmol; 2018 Apr; 136(2):135-143. PubMed ID: 29525873
    [Abstract] [Full Text] [Related]

  • 9. 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 Apr; 20():341-51. PubMed ID: 24715752
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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 Dec 01; 38(3):206-210. PubMed ID: 27428514
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. Identification of a novel GRM6 mutation in a previously described consanguineous family with complete congenital stationary night blindness.
    Tourville A, Michiels C, Condroyer C, Meunier A, Cordonnier M, Sahel JA, Audo I, Abramowicz M, Zeitz C.
    Ophthalmic Genet; 2019 Apr 01; 40(2):182-184. PubMed ID: 31063016
    [No Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. 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 Sep 01; 17():3262-70. PubMed ID: 22194652
    [Abstract] [Full Text] [Related]

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  • 17. 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]

  • 18. A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness.
    Mahmood U, Méjécase C, Ali SMA, Moosajee M, Kozak I.
    Genes (Basel); 2021 Jan 27; 12(2):. PubMed ID: 33513752
    [Abstract] [Full Text] [Related]

  • 19. 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 27; 120(10):2072-81. PubMed ID: 23714322
    [Abstract] [Full Text] [Related]

  • 20. 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 27; 254(10):1951-1956. PubMed ID: 27084085
    [Abstract] [Full Text] [Related]

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