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Journal Abstract Search

133 related items for PubMed ID: 35947237

  • 1. A clinical and electrophysiological case study of a child with a novel frame shift mutation in the CACNA1F and missense variation of RIMS1 genes.
    Weston P, Taranath D, Liebelt J, Smith N.
    Doc Ophthalmol; 2022 Oct; 145(2):163-174. PubMed ID: 35947237
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  • 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; 120(10):2072-81. PubMed ID: 23714322
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  • 6. 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
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  • 10. Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.
    Hove MN, Kilic-Biyik KZ, Trotter A, Grønskov K, Sander B, Larsen M, Carroll J, Bech-Hansen T, Rosenberg T.
    Invest Ophthalmol Vis Sci; 2016 Dec 01; 57(15):6861-6869. PubMed ID: 28002560
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  • 11. 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 01; 190():58-68. PubMed ID: 29559409
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  • 12. 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 01; 42(7):1610-6. PubMed ID: 11381068
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  • 13. Two novel CACNA1F gene mutations cause two different phenotypes: Aland Eye Disease and incomplete Congenital Stationary Night Blindness.
    Mihalich A, Cammarata G, Tremolada G, Pollazzon M, Di Blasio AM, Marzoli SB.
    Exp Eye Res; 2022 Aug 01; 221():109143. PubMed ID: 35697328
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  • 16. A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness.
    Jacobi FK, Hamel CP, Arnaud B, Blin N, Broghammer M, Jacobi PC, Apfelstedt-Sylla E, Pusch CM.
    Am J Ophthalmol; 2003 May 01; 135(5):733-6. PubMed ID: 12719097
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  • 17. Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children.
    Miraldi Utz V, Pfeifer W, Longmuir SQ, Olson RJ, Wang K, Drack AV.
    JAMA Ophthalmol; 2018 Apr 01; 136(4):389-398. PubMed ID: 29522070
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  • 18. An Ashkenazi Jewish founder mutation in CACNA1F causes retinal phenotype in both hemizygous males and heterozygous female carriers.
    Kimchi A, Meiner V, Silverstein S, Macarov M, Mor-Shaked H, Blumenfeld A, Audo I, Zeitz C, Mechoulam H, Banin E, Sharon D, Yahalom C.
    Ophthalmic Genet; 2019 Oct 01; 40(5):443-448. PubMed ID: 31651202
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  • 19. 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 Oct 01; 664():549-58. PubMed ID: 20238058
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