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Journal Abstract Search

383 related items for PubMed ID: 31583501

  • 1. 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]

  • 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. 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]

  • 4. Novel homozygous in-frame deletion of GNAT1 gene causes golden appearance of fundus and reduced scotopic ERGs similar to that in Oguchi disease in Japanese family.
    Kubota D, Oishi N, Gocho K, Kikuchi S, Yamaki K, Igarashi T, Takahashi H, Ishida N, Iwata T, Mizota A, Kameya S.
    Ophthalmic Genet; 2019 Oct; 40(5):480-487. PubMed ID: 31696758
    [Abstract] [Full Text] [Related]

  • 5. 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 Oct; 10(9):e0137072. PubMed ID: 26368928
    [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. 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]

  • 8. Rod and cone function in the Nougaret form of stationary night blindness.
    Sandberg MA, Pawlyk BS, Dan J, Arnaud B, Dryja TP, Berson EL.
    Arch Ophthalmol; 1998 Jul; 116(7):867-72. PubMed ID: 9682699
    [Abstract] [Full Text] [Related]

  • 9. 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; 120(10):2072-81. PubMed ID: 23714322
    [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; 254(10):1951-1956. PubMed ID: 27084085
    [Abstract] [Full Text] [Related]

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

  • 12. Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D.
    Stunkel ML, Brodie SE, Cideciyan AV, Pfeifer WL, Kennedy EL, Stone EM, Jacobson SG, Drack AV.
    Am J Ophthalmol; 2018 Jun; 190():58-68. PubMed ID: 29559409
    [Abstract] [Full Text] [Related]

  • 13. Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy.
    Pasutto F, Ekici A, Reis A, Kremers J, Huchzermeyer C.
    Ophthalmic Genet; 2018 Dec; 39(6):741-748. PubMed ID: 30260717
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies.
    Birtel J, Gliem M, Hess K, Birtel TH, Holz FG, Zechner U, Bolz HJ, Herrmann P.
    Genes (Basel); 2020 Jan 28; 11(2):. PubMed ID: 32013026
    [Abstract] [Full Text] [Related]

  • 16. A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness.
    Zeitz C, Méjécase C, Stévenard M, Michiels C, Audo I, Marmor MF.
    Biomed Res Int; 2018 Jan 28; 2018():7694801. PubMed ID: 29850563
    [Abstract] [Full Text] [Related]

  • 17. 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 28; 99(6):581-591. PubMed ID: 33369259
    [Abstract] [Full Text] [Related]

  • 18. Phenotypic characterization of complete CSNB in the inbred research beagle: how common is CSNB in research and companion dogs?
    Oh A, Loew ER, Foster ML, Davidson MG, English RV, Gervais KJ, Herring IP, Mowat FM.
    Doc Ophthalmol; 2018 Oct 28; 137(2):87-101. PubMed ID: 30051304
    [Abstract] [Full Text] [Related]

  • 19. Electronegative Electroretinograms in the United Arab Emirates.
    Alsalamah AK, Khan AO.
    Middle East Afr J Ophthalmol; 2020 Oct 28; 27(2):86-90. PubMed ID: 32874040
    [Abstract] [Full Text] [Related]

  • 20. 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]

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