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Journal Abstract Search

139 related items for PubMed ID: 17584859

  • 21.
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  • 23. Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.
    Méjécase C, Laurent-Coriat C, Mayer C, Poch O, Mohand-Saïd S, Prévot C, Antonio A, Boyard F, Condroyer C, Michiels C, Blanchard S, Letexier M, Saraiva JP, Sahel JA, Audo I, Zeitz C.
    PLoS One; 2016; 11(12):e0168271. PubMed ID: 27977773
    [Abstract] [Full Text] [Related]

  • 24. 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]

  • 25. 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; 100(4):495-500. PubMed ID: 26472407
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  • 26. Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness.
    Rao VR, Cohen GB, Oprian DD.
    Nature; 1994 Feb 17; 367(6464):639-42. PubMed ID: 8107847
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  • 27. Mutation of cGMP phosphodiesterase 6alpha'-subunit gene causes progressive degeneration of cone photoreceptors in zebrafish.
    Nishiwaki Y, Komori A, Sagara H, Suzuki E, Manabe T, Hosoya T, Nojima Y, Wada H, Tanaka H, Okamoto H, Masai I.
    Mech Dev; 2008 Feb 17; 125(11-12):932-46. PubMed ID: 18824093
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  • 28. A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.
    Littink KW, van Genderen MM, Collin RW, Roosing S, de Brouwer AP, Riemslag FC, Venselaar H, Thiadens AA, Hoyng CB, Rohrschneider K, den Hollander AI, Cremers FP, van den Born LI.
    Invest Ophthalmol Vis Sci; 2009 May 17; 50(5):2344-50. PubMed ID: 19074807
    [Abstract] [Full Text] [Related]

  • 29. Characterization of rhodopsin congenital night blindness mutant T94I.
    Gross AK, Rao VR, Oprian DD.
    Biochemistry; 2003 Feb 25; 42(7):2009-15. PubMed ID: 12590588
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  • 30. Loss of the effector function in a transducin-alpha mutant associated with Nougaret night blindness.
    Muradov KG, Artemyev NO.
    J Biol Chem; 2000 Mar 10; 275(10):6969-74. PubMed ID: 10702259
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  • 31. Canine rod transducin alpha-1: cloning of the cDNA and evaluation of the gene as a candidate for progressive retinal atrophy.
    Ray K, Baldwin VJ, Zeiss C, Acland GM, Aguirre GD.
    Curr Eye Res; 1997 Jan 10; 16(1):71-7. PubMed ID: 9043826
    [Abstract] [Full Text] [Related]

  • 32. Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness.
    Tsang SH, Woodruff ML, Jun L, Mahajan V, Yamashita CK, Pedersen R, Lin CS, Goff SP, Rosenberg T, Larsen M, Farber DB, Nusinowitz S.
    Hum Mutat; 2007 Mar 10; 28(3):243-54. PubMed ID: 17044014
    [Abstract] [Full Text] [Related]

  • 33. Dark continuous noise from mutant G90D-rhodopsin predominantly underlies congenital stationary night blindness.
    Chai Z, Ye Y, Silverman D, Rose K, Madura A, Reed RR, Chen J, Yau KW.
    Proc Natl Acad Sci U S A; 2024 May 21; 121(21):e2404763121. PubMed ID: 38743626
    [Abstract] [Full Text] [Related]

  • 34. Functional analysis of congenital stationary night blindness type-2 CACNA1F mutations F742C, G1007R, and R1049W.
    Peloquin JB, Rehak R, Doering CJ, McRory JE.
    Neuroscience; 2007 Dec 05; 150(2):335-45. PubMed ID: 17949918
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  • 35. [Family investigation and clinical genetic analysis of a large pedigree with congenital stationary night blindness].
    Fei YJ.
    Zhonghua Yan Ke Za Zhi; 1992 May 05; 28(3):162-5. PubMed ID: 1286605
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  • 36. 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 05; 28(8):771-80. PubMed ID: 17405131
    [Abstract] [Full Text] [Related]

  • 37. Retinal degeneration in mice expressing the constitutively active G90D rhodopsin mutant.
    Colozo AT, Vasudevan S, Park PS.
    Hum Mol Genet; 2020 Apr 15; 29(6):881-891. PubMed ID: 31960909
    [Abstract] [Full Text] [Related]

  • 38. Phototransduction in a transgenic mouse model of Nougaret night blindness.
    Moussaif M, Rubin WW, Kerov V, Reh R, Chen D, Lem J, Chen CK, Hurley JB, Burns ME, Artemyev NO.
    J Neurosci; 2006 Jun 21; 26(25):6863-72. PubMed ID: 16793893
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  • 39. Altered G-protein coupling in an mGluR6 point mutant associated with congenital stationary night blindness.
    Beqollari D, Betzenhauser MJ, Kammermeier PJ.
    Mol Pharmacol; 2009 Nov 21; 76(5):992-7. PubMed ID: 19666700
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  • 40. [Congenital stationary night blindness].
    Svĕrák J, Jebavá R, Peregrin J, Zizka J, Hartmann M.
    Cesk Slov Oftalmol; 1996 Jul 21; 52(3):135-42. PubMed ID: 8768469
    [Abstract] [Full Text] [Related]

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