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Journal Abstract Search

128 related items for PubMed ID: 9051837

  • 41.
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  • 43. A 5-year-old Syrian female was born with Oguchi disease: a rare case report.
    Habeeb R, Baba M, Bazkke B, Zazo A, Marashi A.
    Ann Med Surg (Lond); 2023 Apr; 85(4):918-921. PubMed ID: 37113844
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  • 45. Rod and cone function in the Nougaret form of stationary night blindness.
    Sandberg MA, Pawlyk BS, Dan J, Arnaud B, Dryja TP, Berson EL.
    Arch Ophthalmol; 1998 Jul; 116(7):867-72. PubMed ID: 9682699
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  • 47. [Clinical and genetic findings in a patient with fundus albipunctatus].
    Rüther K, Janssen BP, Kellner U, Janssen JJ, Bohne M, Reimann J, Driessen CA.
    Ophthalmologe; 2004 Feb; 101(2):177-85. PubMed ID: 14991316
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  • 48. A distinctive form of congenital stationary night blindness with cone ON-pathway dysfunction.
    Barnes CS, Alexander KR, Fishman GA.
    Ophthalmology; 2002 Mar; 109(3):575-83. PubMed ID: 11874764
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  • 49. [A case of Oguchi disease with disappearance of golden tapetal-like fundus reflex after vitreous resection].
    Kuroda M, Hirami Y, Nishida A, Jin ZB, Ishigami C, Takahashi M, Kurimoto Y.
    Nippon Ganka Gakkai Zasshi; 2011 Oct; 115(10):916-23. PubMed ID: 22117325
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  • 51. Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes.
    Fishman GA, Roberts MF, Derlacki DJ, Grimsby JL, Yamamoto H, Sharon D, Nishiguchi KM, Dryja TP.
    Arch Ophthalmol; 2004 Jan; 122(1):70-5. PubMed ID: 14718298
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  • 52. Recurrent episodes of night blindness in a patient with short bowel syndrome.
    Renner AB, Dietrich-Ntoukas T, Jägle H.
    Doc Ophthalmol; 2015 Dec; 131(3):221-30. PubMed ID: 26507840
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  • 54. 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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  • 55. Oguchi type I caused by a homozygous missense variation in the SAG gene.
    Colombo L, Abeshi A, Maltese PE, Frecer V, Miertuš J, Cerra D, Bertelli M, Rossetti L.
    Eur J Med Genet; 2019 Sep; 62(9):103548. PubMed ID: 30267901
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  • 59. Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.
    Sharon D, Sandberg MA, Caruso RC, Berson EL, Dryja TP.
    Arch Ophthalmol; 2003 Sep; 121(9):1316-23. PubMed ID: 12963616
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  • 60. X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60.
    Fishman GA, Grover S, Jacobson SG, Alexander KR, Derlacki DJ, Wu W, Buraczynska M, Swaroop A.
    Ophthalmology; 1998 Dec; 105(12):2286-96. PubMed ID: 9855162
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