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Journal Abstract Search

169 related items for PubMed ID: 12719097

  • 1. 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; 135(5):733-6. PubMed ID: 12719097
    [Abstract] [Full Text] [Related]

  • 2. 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; 42(7):1610-6. PubMed ID: 11381068
    [Abstract] [Full Text] [Related]

  • 3. Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2.
    Hope CI, Sharp DM, Hemara-Wahanui A, Sissingh JI, Lundon P, Mitchell EA, Maw MA, Clover GM.
    Clin Exp Ophthalmol; 2005 Apr; 33(2):129-36. PubMed ID: 15807819
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  • 4. 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]

  • 5. 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; 664():549-58. PubMed ID: 20238058
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  • 8. A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.
    Hemara-Wahanui A, Berjukow S, Hope CI, Dearden PK, Wu SB, Wilson-Wheeler J, Sharp DM, Lundon-Treweek P, Clover GM, Hoda JC, Striessnig J, Marksteiner R, Hering S, Maw MA.
    Proc Natl Acad Sci U S A; 2005 May 24; 102(21):7553-8. PubMed ID: 15897456
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  • 10. Genotype-phenotype correlation in British families with X linked congenital stationary night blindness.
    Allen LE, Zito I, Bradshaw K, Patel RJ, Bird AC, Fitzke F, Yates JR, Trump D, Hardcastle AJ, Moore AT.
    Br J Ophthalmol; 2003 Nov 24; 87(11):1413-20. PubMed ID: 14609846
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  • 11. Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness.
    Zeitz C, Kloeckener-Gruissem B, Forster U, Kohl S, Magyar I, Wissinger B, Mátyás G, Borruat FX, Schorderet DF, Zrenner E, Munier FL, Berger W.
    Am J Hum Genet; 2006 Oct 24; 79(4):657-67. PubMed ID: 16960802
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  • 12. Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F.
    Boycott KM, Pearce WG, Bech-Hansen NT.
    Can J Ophthalmol; 2000 Jun 24; 35(4):204-13. PubMed ID: 10900517
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  • 13. 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
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  • 14. An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.
    Strom TM, Nyakatura G, Apfelstedt-Sylla E, Hellebrand H, Lorenz B, Weber BH, Wutz K, Gutwillinger N, Rüther K, Drescher B, Sauer C, Zrenner E, Meitinger T, Rosenthal A, Meindl A.
    Nat Genet; 1998 Jul 15; 19(3):260-3. PubMed ID: 9662399
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  • 15. Photoreceptor degeneration in two mouse models for congenital stationary night blindness type 2.
    Regus-Leidig H, Atorf J, Feigenspan A, Kremers J, Maw MA, Brandstätter JH.
    PLoS One; 2014 Jul 15; 9(1):e86769. PubMed ID: 24466230
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  • 16. 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]

  • 17. Dysregulation of Ca(v)1.4 channels disrupts the maturation of photoreceptor synaptic ribbons in congenital stationary night blindness type 2.
    Liu X, Kerov V, Haeseleer F, Majumder A, Artemyev N, Baker SA, Lee A.
    Channels (Austin); 2013 Jan 27; 7(6):514-23. PubMed ID: 24064553
    [Abstract] [Full Text] [Related]

  • 18. [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 27; 106(12):737-55; discussion 756. PubMed ID: 12610835
    [Abstract] [Full Text] [Related]

  • 19. A novel CACNA1F gene mutation causes Aland Island eye disease.
    Jalkanen R, Bech-Hansen NT, Tobias R, Sankila EM, Mäntyjärvi M, Forsius H, de la Chapelle A, Alitalo T.
    Invest Ophthalmol Vis Sci; 2007 Jun 27; 48(6):2498-502. PubMed ID: 17525176
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  • 20. 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 Jun 27; 7(6):503-13. PubMed ID: 24051672
    [Abstract] [Full Text] [Related]

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