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Journal Abstract Search

276 related items for PubMed ID: 23099293

  • 1.
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  • 2. 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
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  • 4. 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 Oct; 10(9):e0137072. PubMed ID: 26368928
    [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 Oct; 7(6):514-23. PubMed ID: 24064553
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. Keeping the balance.
    Tom Dieck S.
    Channels (Austin); 2013 Mar 01; 7(6):418-9. PubMed ID: 24722264
    [Abstract] [Full Text] [Related]

  • 8. Retinal findings in a patient of French ancestry with CABP4-related retinal disease.
    Smirnov VM, Zeitz C, Soumittra N, Audo I, Defoort-Dhellemmes S.
    Doc Ophthalmol; 2018 Apr 01; 136(2):135-143. PubMed ID: 29525873
    [Abstract] [Full Text] [Related]

  • 9. Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.
    Hove MN, Kilic-Biyik KZ, Trotter A, Grønskov K, Sander B, Larsen M, Carroll J, Bech-Hansen T, Rosenberg T.
    Invest Ophthalmol Vis Sci; 2016 Dec 01; 57(15):6861-6869. PubMed ID: 28002560
    [Abstract] [Full Text] [Related]

  • 10. Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children.
    Miraldi Utz V, Pfeifer W, Longmuir SQ, Olson RJ, Wang K, Drack AV.
    JAMA Ophthalmol; 2018 Apr 01; 136(4):389-398. PubMed ID: 29522070
    [Abstract] [Full Text] [Related]

  • 11. Congenital Stationary Night Blindness: Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients.
    Katta M, de Guimaraes TAC, Fujinami-Yokokawa Y, Fujinami K, Georgiou M, Mahroo OA, Webster AR, Michaelides M.
    Ophthalmol Retina; 2024 Sep 01; 8(9):932-941. PubMed ID: 38522615
    [Abstract] [Full Text] [Related]

  • 12. Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness.
    Dan H, Song X, Li J, Xing Y, Li T.
    Ophthalmic Genet; 2017 Sep 01; 38(3):206-210. PubMed ID: 27428514
    [Abstract] [Full Text] [Related]

  • 13. Childhood retinal dystrophies: what's in a name?
    Traboulsi EI.
    Br J Ophthalmol; 2013 Mar 01; 97(3):247. PubMed ID: 23242674
    [No Abstract] [Full Text] [Related]

  • 14. 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 Mar 01; 21():1261-71. PubMed ID: 26628857
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia.
    Almutairi F, Almeshari N, Ahmad K, Magliyah MS, Schatz P.
    Acta Ophthalmol; 2021 Sep 15; 99(6):581-591. PubMed ID: 33369259
    [Abstract] [Full Text] [Related]

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  • 18. Congenital Stationary Night Blindness due to Novel TRPM1 Gene Mutations in a Korean Patient.
    Lee YJ, Joo K, Seong MW, Park KH, Park SS, Woo SJ.
    Korean J Ophthalmol; 2020 Apr 15; 34(2):170-172. PubMed ID: 32233153
    [No Abstract] [Full Text] [Related]

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  • 20. A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.
    Vincent A, Wright T, Day MA, Westall CA, Héon E.
    Mol Vis; 2011 Apr 15; 17():3262-70. PubMed ID: 22194652
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