These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

138 related articles for article (PubMed ID: 17584859)

  • 21. 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; 10(9):e0137072. PubMed ID: 26368928
    [TBL] [Abstract][Full Text] [Related]  

  • 22. [Mutation analysis of pathogenic genes in a Henan family affected with congenital stationary night blindness].
    Wang FY; Wang YL; Yang Y; Li CM; Zhang T; Chang MX; Zhu YL
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Apr; 29(2):145-8. PubMed ID: 22487821
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [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
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness.
    Rao VR; Cohen GB; Oprian DD
    Nature; 1994 Feb; 367(6464):639-42. PubMed ID: 8107847
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 125(11-12):932-46. PubMed ID: 18824093
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 50(5):2344-50. PubMed ID: 19074807
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Characterization of rhodopsin congenital night blindness mutant T94I.
    Gross AK; Rao VR; Oprian DD
    Biochemistry; 2003 Feb; 42(7):2009-15. PubMed ID: 12590588
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 275(10):6969-74. PubMed ID: 10702259
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 16(1):71-7. PubMed ID: 9043826
    [TBL] [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; 28(3):243-54. PubMed ID: 17044014
    [TBL] [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; 121(21):e2404763121. PubMed ID: 38743626
    [TBL] [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; 150(2):335-45. PubMed ID: 17949918
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 28(3):162-5. PubMed ID: 1286605
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 28(8):771-80. PubMed ID: 17405131
    [TBL] [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; 29(6):881-891. PubMed ID: 31960909
    [TBL] [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; 26(25):6863-72. PubMed ID: 16793893
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 76(5):992-7. PubMed ID: 19666700
    [TBL] [Abstract][Full Text] [Related]  

  • 40. [Congenital stationary night blindness].
    Svĕrák J; Jebavá R; Peregrin J; Zizka J; Hartmann M
    Cesk Slov Oftalmol; 1996 Jul; 52(3):135-42. PubMed ID: 8768469
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.