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Journal Abstract Search

464 related items for PubMed ID: 30051303

  • 1. 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]

  • 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. 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]

  • 5. 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 May 05; 2018():7694801. PubMed ID: 29850563
    [Abstract] [Full Text] [Related]

  • 6. 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 May 05; 10(9):e0137072. PubMed ID: 26368928
    [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 May 05; 20():341-51. PubMed ID: 24715752
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. [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]

  • 10. 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]

  • 11. 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 05; 254(10):1951-1956. PubMed ID: 27084085
    [Abstract] [Full Text] [Related]

  • 12. A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration.
    Carrigan M, Duignan E, Humphries P, Palfi A, Kenna PF, Farrar GJ.
    Br J Ophthalmol; 2016 Apr 05; 100(4):495-500. PubMed ID: 26472407
    [Abstract] [Full Text] [Related]

  • 13. [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 05; 106(12):737-55; discussion 756. PubMed ID: 12610835
    [Abstract] [Full Text] [Related]

  • 14. 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 05; 137(2):87-101. PubMed ID: 30051304
    [Abstract] [Full Text] [Related]

  • 15. 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 05; 40(5):480-487. PubMed ID: 31696758
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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 05; 136(2):135-143. PubMed ID: 29525873
    [Abstract] [Full Text] [Related]

  • 18. 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 Apr 05; 17():3262-70. PubMed ID: 22194652
    [Abstract] [Full Text] [Related]

  • 19. 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 05; 99(6):581-591. PubMed ID: 33369259
    [Abstract] [Full Text] [Related]

  • 20. Behavioral phenotypic properties of a natural occurring rat model of congenital stationary night blindness with Cacna1f mutation.
    An J, Wang L, Guo Q, Li L, Xia F, Zhang Z.
    J Neurogenet; 2012 Sep 05; 26(3-4):363-73. PubMed ID: 22800190
    [Abstract] [Full Text] [Related]

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