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Journal Abstract Search

469 related items for PubMed ID: 16249515

  • 1. Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.
    Zeitz C, van Genderen M, Neidhardt J, Luhmann UF, Hoeben F, Forster U, Wycisk K, Mátyás G, Hoyng CB, Riemslag F, Meire F, Cremers FP, Berger W.
    Invest Ophthalmol Vis Sci; 2005 Nov; 46(11):4328-35. PubMed ID: 16249515
    [Abstract] [Full Text] [Related]

  • 2. Slow and fast rod ERG pathways in patients with X-linked complete stationary night blindness carrying mutations in the NYX gene.
    Scholl HP, Langrová H, Pusch CM, Wissinger B, Zrenner E, Apfelstedt-Sylla E.
    Invest Ophthalmol Vis Sci; 2001 Oct; 42(11):2728-36. PubMed ID: 11581222
    [Abstract] [Full Text] [Related]

  • 3. A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene.
    Sergouniotis PI, Robson AG, Li Z, Devery S, Holder GE, Moore AT, Webster AR.
    Acta Ophthalmol; 2012 May; 90(3):e192-7. PubMed ID: 22008250
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. A common NYX mutation in Flemish patients with X linked CSNB.
    Leroy BP, Budde BS, Wittmer M, De Baere E, Berger W, Zeitz C.
    Br J Ophthalmol; 2009 May; 93(5):692-6. PubMed ID: 18617546
    [Abstract] [Full Text] [Related]

  • 6. Genotyping microarray for CSNB-associated genes.
    Zeitz C, Labs S, Lorenz B, Forster U, Uksti J, Kroes HY, De Baere E, Leroy BP, Cremers FP, Wittmer M, van Genderen MM, Sahel JA, Audo I, Poloschek CM, Mohand-Saïd S, Fleischhauer JC, Hüffmeier U, Moskova-Doumanova V, Levin AV, Hamel CP, Leifert D, Munier FL, Schorderet DF, Zrenner E, Friedburg C, Wissinger B, Kohl S, Berger W.
    Invest Ophthalmol Vis Sci; 2009 Dec; 50(12):5919-26. PubMed ID: 19578023
    [Abstract] [Full Text] [Related]

  • 7. Primate Retinal Signaling Pathways: Suppressing ON-Pathway Activity in Monkey With Glutamate Analogues Mimics Human CSNB1-NYX Genetic Night Blindness.
    Khan NW, Kondo M, Hiriyanna KT, Jamison JA, Bush RA, Sieving PA.
    J Neurophysiol; 2005 Jan; 93(1):481-92. PubMed ID: 15331616
    [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; 120(10):2072-81. PubMed ID: 23714322
    [Abstract] [Full Text] [Related]

  • 9. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.
    Bech-Hansen NT, Naylor MJ, Maybaum TA, Sparkes RL, Koop B, Birch DG, Bergen AA, Prinsen CF, Polomeno RC, Gal A, Drack AV, Musarella MA, Jacobson SG, Young RS, Weleber RG.
    Nat Genet; 2000 Nov; 26(3):319-23. PubMed ID: 11062471
    [Abstract] [Full Text] [Related]

  • 10. A naturally occurring mouse model of X-linked congenital stationary night blindness.
    Pardue MT, McCall MA, LaVail MM, Gregg RG, Peachey NS.
    Invest Ophthalmol Vis Sci; 1998 Nov; 39(12):2443-9. PubMed ID: 9804152
    [Abstract] [Full Text] [Related]

  • 11. Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness.
    Naeem MA, Gottsch AD, Ullah I, Khan SN, Husnain T, Butt NH, Qazi ZA, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA.
    Mol Vis; 2015 Nov; 21():1261-71. PubMed ID: 26628857
    [Abstract] [Full Text] [Related]

  • 12. A dominant form of congenital stationary night blindness (adCSNB) in a large Chinese family.
    Liu X, Zhuang S, Hu S, Zhang F, Lin B, Li X, Xu D, Chen SH.
    Ann Hum Genet; 2005 May; 69(Pt 3):315-21. PubMed ID: 15845035
    [Abstract] [Full Text] [Related]

  • 13. A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses.
    Hayashi T, Gekka T, Takeuchi T, Goto-Omoto S, Kitahara K.
    Ophthalmology; 2007 Jan; 114(1):134-41. PubMed ID: 17070587
    [Abstract] [Full Text] [Related]

  • 14. 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; 19(3):264-7. PubMed ID: 9662400
    [Abstract] [Full Text] [Related]

  • 15. [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; 106(12):737-55; discussion 756. PubMed ID: 12610835
    [Abstract] [Full Text] [Related]

  • 16. Mutations in NYX of individuals with high myopia, but without night blindness.
    Zhang Q, Xiao X, Li S, Jia X, Yang Z, Huang S, Caruso RC, Guan T, Sergeev Y, Guo X, Hejtmancik JF.
    Mol Vis; 2007 Mar 01; 13():330-6. PubMed ID: 17392683
    [Abstract] [Full Text] [Related]

  • 17. Pseudodominant inheritance of autosomal recessive congenital stationary night blindness in one family with three co-segregating deleterious GRM6 variants identified by next-generation sequencing.
    Liu HY, Huang J, Xiao H, Zhang MJ, Shi FF, Jiang YH, Du H, He Q, Wang ZY.
    Mol Genet Genomic Med; 2019 Dec 01; 7(12):e952. PubMed ID: 31677249
    [Abstract] [Full Text] [Related]

  • 18. Characteristic ERG-flicker anomaly in incomplete congenital stationary night blindness.
    Miyake Y, Horiguchi M, Ota I, Shiroyama N.
    Invest Ophthalmol Vis Sci; 1987 Nov 01; 28(11):1816-23. PubMed ID: 3499417
    [Abstract] [Full Text] [Related]

  • 19. Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking.
    Zeitz C, Forster U, Neidhardt J, Feil S, Kälin S, Leifert D, Flor PJ, Berger W.
    Hum Mutat; 2007 Aug 01; 28(8):771-80. PubMed ID: 17405131
    [Abstract] [Full Text] [Related]

  • 20. 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 01; 137(1):57-62. PubMed ID: 30051303
    [Abstract] [Full Text] [Related]

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