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Journal Abstract Search

128 related items for PubMed ID: 9051837

  • 21. Oguchi disease with unusual findings associated with a heterozygous mutation in the SAG gene.
    Fujinami K, Tsunoda K, Nakamura M, Oguchi Y, Miyake Y.
    Arch Ophthalmol; 2011 Oct; 129(10):1375-6. PubMed ID: 21987685
    [No Abstract] [Full Text] [Related]

  • 22. Novel homozygous in-frame deletion of GNAT1 gene causes golden appearance of fundus and reduced scotopic ERGs similar to that in Oguchi disease in Japanese family.
    Kubota D, Oishi N, Gocho K, Kikuchi S, Yamaki K, Igarashi T, Takahashi H, Ishida N, Iwata T, Mizota A, Kameya S.
    Ophthalmic Genet; 2019 Oct; 40(5):480-487. PubMed ID: 31696758
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  • 24. Two Indian siblings with Oguchi disease are homozygous for an arrestin mutation encoding premature termination.
    Maw M, Kumaramanickavel G, Kar B, John S, Bridges R, Denton M.
    Hum Mutat; 1998 Oct; Suppl 1():S317-9. PubMed ID: 9452120
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  • 26. Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness.
    Yamamoto S, Sippel KC, Berson EL, Dryja TP.
    Nat Genet; 1997 Feb; 15(2):175-8. PubMed ID: 9020843
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  • 29. Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease.
    Tawfik CA, Elbagoury NM, Khater NI, Essawi ML.
    BMC Ophthalmol; 2022 May 12; 22(1):217. PubMed ID: 35549688
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  • 31. A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease.
    Waheed NK, Qavi AH, Malik SN, Maria M, Riaz M, Cremers FP, Azam M, Qamar R.
    Mol Vis; 2012 May 12; 18():1253-9. PubMed ID: 22665972
    [Abstract] [Full Text] [Related]

  • 32. [Molecular genetic study of congenital stationary night blindness].
    Nakamura M, Miyake Y.
    Nippon Ganka Gakkai Zasshi; 2004 Nov 12; 108(11):665-73. PubMed ID: 15584351
    [Abstract] [Full Text] [Related]

  • 33. A Chinese family with Oguchi's disease due to compound heterozygosity including a novel deletion in the arrestin gene.
    Huang L, Li W, Tang W, Zhu X, Ou-Yang P, Lu G.
    Mol Vis; 2012 Nov 12; 18():528-36. PubMed ID: 22419846
    [Abstract] [Full Text] [Related]

  • 34. Fundus albipunctatus associated with compound heterozygous mutations in RPE65.
    Schatz P, Preising M, Lorenz B, Sander B, Larsen M, Rosenberg T.
    Ophthalmology; 2011 May 12; 118(5):888-94. PubMed ID: 21211845
    [Abstract] [Full Text] [Related]

  • 35. A Homozygote Mutation in S-Antigen Visual Arrestin SAG Gene in an Iranian Patient with Oguchi Type One: A Case Report.
    Aryan H, Bahadori A, Farhud DD, Zarif Yeganeh M, Pourkalhor H.
    Iran J Public Health; 2020 May 12; 49(5):995-1000. PubMed ID: 32953689
    [Abstract] [Full Text] [Related]

  • 36. Mizuo-Nakamura phenomenon in Oguchi disease due to a homozygous nonsense mutation in the SAG gene.
    Sergouniotis PI, Davidson AE, Sehmi K, Webster AR, Robson AG, Moore AT.
    Eye (Lond); 2011 Aug 12; 25(8):1098-101. PubMed ID: 21494281
    [No Abstract] [Full Text] [Related]

  • 37. Clinical and electroretinographic findings of female carriers and affected males in a progressive X-linked cone-rod dystrophy (COD-1) pedigree.
    Brown J, Kimura AE, Gorin MB.
    Ophthalmology; 2000 Jun 12; 107(6):1104-10. PubMed ID: 10857830
    [Abstract] [Full Text] [Related]

  • 38. Chromosome 19q cone-rod retinal dystrophy. Ocular phenotype.
    Evans K, Duvall-Young J, Fitzke FW, Arden GB, Bhattacharya SS, Bird AC.
    Arch Ophthalmol; 1995 Feb 12; 113(2):195-201. PubMed ID: 7864751
    [Abstract] [Full Text] [Related]

  • 39. Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness.
    Nakamura M, Ito S, Terasaki H, Miyake Y.
    Invest Ophthalmol Vis Sci; 2001 Jun 12; 42(7):1610-6. PubMed ID: 11381068
    [Abstract] [Full Text] [Related]

  • 40. 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 12; 50(5):2344-50. PubMed ID: 19074807
    [Abstract] [Full Text] [Related]

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