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Journal Abstract Search

293 related items for PubMed ID: 22800190

  • 1. 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; 26(3-4):363-73. PubMed ID: 22800190
    [Abstract] [Full Text] [Related]

  • 2. Visual signal pathway reorganization in the Cacna1f mutant rat model.
    Tao Y, Chen T, Liu B, Xue JH, Zhang L, Xia F, Pang JJ, Zhang ZM.
    Invest Ophthalmol Vis Sci; 2013 Mar 19; 54(3):1988-97. PubMed ID: 23425697
    [Abstract] [Full Text] [Related]

  • 3. 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 19; 120(10):2072-81. PubMed ID: 23714322
    [Abstract] [Full Text] [Related]

  • 4. Cacna1f gene decreased contractility of skeletal muscle in rat model with congenital stationary night blindness.
    An J, Zhang L, Jiao B, Lu F, Xia F, Yu Z, Zhang Z.
    Gene; 2015 May 15; 562(2):210-9. PubMed ID: 25748727
    [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 May 15; 10(9):e0137072. PubMed ID: 26368928
    [Abstract] [Full Text] [Related]

  • 6. Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness.
    Nakamura M, Ito S, Terasaki H, Miyake Y.
    Invest Ophthalmol Vis Sci; 2001 Jun 15; 42(7):1610-6. PubMed ID: 11381068
    [Abstract] [Full Text] [Related]

  • 7. 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 15; 137(1):57-62. PubMed ID: 30051303
    [Abstract] [Full Text] [Related]

  • 8. 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 15; 39(6):741-748. PubMed ID: 30260717
    [Abstract] [Full Text] [Related]

  • 9. 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 15; 45():58-110. PubMed ID: 25307992
    [Abstract] [Full Text] [Related]

  • 10. 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 15; 8(9):932-941. PubMed ID: 38522615
    [Abstract] [Full Text] [Related]

  • 11. 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 15; 140(2):147-157. PubMed ID: 31583501
    [Abstract] [Full Text] [Related]

  • 12. Cav1.4 IT mouse as model for vision impairment in human congenital stationary night blindness type 2.
    Knoflach D, Kerov V, Sartori SB, Obermair GJ, Schmuckermair C, Liu X, Sothilingam V, Garcia Garrido M, Baker SA, Glösmann M, Schicker K, Seeliger M, Lee A, Koschak A.
    Channels (Austin); 2013 Apr 15; 7(6):503-13. PubMed ID: 24051672
    [Abstract] [Full Text] [Related]

  • 13. Congenital stationary night blindness in mice - a tale of two Cacna1f mutants.
    Lodha N, Bonfield S, Orton NC, Doering CJ, McRory JE, Mema SC, Rehak R, Sauvé Y, Tobias R, Stell WK, Bech-Hansen NT.
    Adv Exp Med Biol; 2010 Apr 15; 664():549-58. PubMed ID: 20238058
    [Abstract] [Full Text] [Related]

  • 14. 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 15; 89(6):690-9. PubMed ID: 26822852
    [Abstract] [Full Text] [Related]

  • 15. 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 15; 254(10):1951-1956. PubMed ID: 27084085
    [Abstract] [Full Text] [Related]

  • 16. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.
    Bech-Hansen NT, Naylor MJ, Maybaum TA, Pearce WG, Koop B, Fishman GA, Mets M, Musarella MA, Boycott KM.
    Nat Genet; 1998 Jul 15; 19(3):264-7. PubMed ID: 9662400
    [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 15; 99(6):581-591. PubMed ID: 33369259
    [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. 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 Jan 27; 20():341-51. PubMed ID: 24715752
    [Abstract] [Full Text] [Related]

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