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Journal Abstract Search

923 related items for PubMed ID: 27267879

  • 1. Amyloid Precursor-Like Protein 2 deletion-induced retinal synaptopathy related to congenital stationary night blindness: structural, functional and molecular characteristics.
    Dinet V, Ciccotosto GD, Delaunay K, Borras C, Ranchon-Cole I, Kostic C, Savoldelli M, El Sanharawi M, Jonet L, Pirou C, An N, Abitbol M, Arsenijevic Y, Behar-Cohen F, Cappai R, Mascarelli F.
    Mol Brain; 2016 Jun 08; 9(1):64. PubMed ID: 27267879
    [Abstract] [Full Text] [Related]

  • 2. 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 Jun 08; 10(9):e0137072. PubMed ID: 26368928
    [Abstract] [Full Text] [Related]

  • 3. A missense mutation in Grm6 reduces but does not eliminate mGluR6 expression or rod depolarizing bipolar cell function.
    Peachey NS, Hasan N, FitzMaurice B, Burrill S, Pangeni G, Karst SY, Reinholdt L, Berry ML, Strobel M, Gregg RG, McCall MA, Chang B.
    J Neurophysiol; 2017 Aug 01; 118(2):845-854. PubMed ID: 28490646
    [Abstract] [Full Text] [Related]

  • 4. LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells.
    Neuillé M, Cao Y, Caplette R, Guerrero-Given D, Thomas C, Kamasawa N, Sahel JA, Hamel CP, Audo I, Picaud S, Martemyanov KA, Zeitz C.
    Invest Ophthalmol Vis Sci; 2017 Mar 01; 58(3):1768-1778. PubMed ID: 28334377
    [Abstract] [Full Text] [Related]

  • 5. 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 Mar 01; 7(6):514-23. PubMed ID: 24064553
    [Abstract] [Full Text] [Related]

  • 6. Congenital stationary night blindness with hypoplastic discs, negative electroretinogram and thinning of the inner nuclear layer.
    Al Oreany AA, Al Hadlaq A, Schatz P.
    Graefes Arch Clin Exp Ophthalmol; 2016 Oct 01; 254(10):1951-1956. PubMed ID: 27084085
    [Abstract] [Full Text] [Related]

  • 7. A New Mouse Model for Complete Congenital Stationary Night Blindness Due to Gpr179 Deficiency.
    Orhan E, Neuillé M, de Sousa Dias M, Pugliese T, Michiels C, Condroyer C, Antonio A, Sahel JA, Audo I, Zeitz C.
    Int J Mol Sci; 2021 Apr 23; 22(9):. PubMed ID: 33922602
    [Abstract] [Full Text] [Related]

  • 8. Optic Atrophy and Inner Retinal Thinning in CACNA1F-related Congenital Stationary Night Blindness.
    Leahy KE, Wright T, Grudzinska Pechhacker MK, Audo I, Tumber A, Tavares E, MacDonald H, Locke J, VandenHoven C, Zeitz C, Heon E, Buncic JR, Vincent A.
    Genes (Basel); 2021 Feb 25; 12(3):. PubMed ID: 33668843
    [Abstract] [Full Text] [Related]

  • 9. Properties and functions of TRPM1 channels in the dendritic tips of retinal ON-bipolar cells.
    Schneider FM, Mohr F, Behrendt M, Oberwinkler J.
    Eur J Cell Biol; 2015 Feb 25; 94(7-9):420-7. PubMed ID: 26111660
    [Abstract] [Full Text] [Related]

  • 10. Differentiation of murine models of "negative ERG" by single and repetitive light stimuli.
    Tanimoto N, Akula JD, Fulton AB, Weber BH, Seeliger MW.
    Doc Ophthalmol; 2016 Apr 25; 132(2):101-9. PubMed ID: 26996188
    [Abstract] [Full Text] [Related]

  • 11. Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A).
    Waldner DM, Giraldo Sierra NC, Bonfield S, Nguyen L, Dimopoulos IS, Sauvé Y, Stell WK, Bech-Hansen NT.
    Channels (Austin); 2018 Jan 01; 12(1):17-33. PubMed ID: 29179637
    [Abstract] [Full Text] [Related]

  • 12. Identification of a new mutant allele, Grm6(nob7), for complete congenital stationary night blindness.
    Qian H, Ji R, Gregg RG, Peachey NS.
    Vis Neurosci; 2015 Jan 01; 32():E004. PubMed ID: 26241901
    [Abstract] [Full Text] [Related]

  • 13. Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB).
    Neuillé M, El Shamieh S, Orhan E, Michiels C, Antonio A, Lancelot ME, Condroyer C, Bujakowska K, Poch O, Sahel JA, Audo I, Zeitz C.
    PLoS One; 2014 Jan 01; 9(3):e90342. PubMed ID: 24598786
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease.
    Godara P, Cooper RF, Sergouniotis PI, Diederichs MA, Streb MR, Genead MA, McAnany JJ, Webster AR, Moore AT, Dubis AM, Neitz M, Dubra A, Stone EM, Fishman GA, Han DP, Michaelides M, Carroll J.
    Am J Ophthalmol; 2012 Dec 01; 154(6):987-1001.e1. PubMed ID: 22959359
    [Abstract] [Full Text] [Related]

  • 16. Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.
    Michalakis S, Shaltiel L, Sothilingam V, Koch S, Schludi V, Krause S, Zeitz C, Audo I, Lancelot ME, Hamel C, Meunier I, Preising MN, Friedburg C, Lorenz B, Zabouri N, Haverkamp S, Garcia Garrido M, Tanimoto N, Seeliger MW, Biel M, Wahl-Schott CA.
    Hum Mol Genet; 2014 Mar 15; 23(6):1538-50. PubMed ID: 24163243
    [Abstract] [Full Text] [Related]

  • 17. Keeping the balance.
    Tom Dieck S.
    Channels (Austin); 2013 Mar 15; 7(6):418-9. PubMed ID: 24722264
    [Abstract] [Full Text] [Related]

  • 18. Further insights into GPR179: expression, localization, and associated pathogenic mechanisms leading to complete congenital stationary night blindness.
    Orhan E, Prézeau L, El Shamieh S, Bujakowska KM, Michiels C, Zagar Y, Vol C, Bhattacharya SS, Sahel JA, Sennlaub F, Audo I, Zeitz C.
    Invest Ophthalmol Vis Sci; 2013 Dec 09; 54(13):8041-50. PubMed ID: 24222301
    [Abstract] [Full Text] [Related]

  • 19. 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 09; 120(10):2072-81. PubMed ID: 23714322
    [Abstract] [Full Text] [Related]

  • 20. 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 Oct 09; 9(1):e86769. PubMed ID: 24466230
    [Abstract] [Full Text] [Related]

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