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Journal Abstract Search

514 related items for PubMed ID: 19074807

  • 21. Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia).
    Michaelides M, Li Z, Rana NA, Richardson EC, Hykin PG, Moore AT, Holder GE, Webster AR.
    Ophthalmology; 2010 Jan; 117(1):120-127.e1. PubMed ID: 19818506
    [Abstract] [Full Text] [Related]

  • 22. Unusual OCT findings in a patient with CABP4-associated cone-rod synaptic disorder.
    Tan JK, Arno G, Josifova D, Mohamed MD, Mahroo OA.
    Doc Ophthalmol; 2024 Apr; 148(2):115-120. PubMed ID: 38206458
    [Abstract] [Full Text] [Related]

  • 23. Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration.
    Lewis CA, Batlle IR, Batlle KG, Banerjee P, Cideciyan AV, Huang J, Alemán TS, Huang Y, Ott J, Gilliam TC, Knowles JA, Jacobson SG.
    Invest Ophthalmol Vis Sci; 1999 Aug; 40(9):2106-14. PubMed ID: 10440267
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  • 24. Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2.
    Hope CI, Sharp DM, Hemara-Wahanui A, Sissingh JI, Lundon P, Mitchell EA, Maw MA, Clover GM.
    Clin Exp Ophthalmol; 2005 Apr; 33(2):129-36. PubMed ID: 15807819
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  • 25. Early-onset severe rod-cone dystrophy in young children with RPE65 mutations.
    Lorenz B, Gyürüs P, Preising M, Bremser D, Gu S, Andrassi M, Gerth C, Gal A.
    Invest Ophthalmol Vis Sci; 2000 Aug; 41(9):2735-42. PubMed ID: 10937591
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  • 26. A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews.
    Auslender N, Sharon D, Abbasi AH, Garzozi HJ, Banin E, Ben-Yosef T.
    Invest Ophthalmol Vis Sci; 2007 Dec; 48(12):5431-8. PubMed ID: 18055789
    [Abstract] [Full Text] [Related]

  • 27. Genotyping microarray for CSNB-associated genes.
    Zeitz C, Labs S, Lorenz B, Forster U, Uksti J, Kroes HY, De Baere E, Leroy BP, Cremers FP, Wittmer M, van Genderen MM, Sahel JA, Audo I, Poloschek CM, Mohand-Saïd S, Fleischhauer JC, Hüffmeier U, Moskova-Doumanova V, Levin AV, Hamel CP, Leifert D, Munier FL, Schorderet DF, Zrenner E, Friedburg C, Wissinger B, Kohl S, Berger W.
    Invest Ophthalmol Vis Sci; 2009 Dec; 50(12):5919-26. PubMed ID: 19578023
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  • 28. The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.
    Schuster A, Janecke AR, Wilke R, Schmid E, Thompson DA, Utermann G, Wissinger B, Zrenner E, Gal A.
    Invest Ophthalmol Vis Sci; 2007 Apr; 48(4):1824-31. PubMed ID: 17389517
    [Abstract] [Full Text] [Related]

  • 29. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.
    Bech-Hansen NT, Naylor MJ, Maybaum TA, Pearce WG, Koop B, Fishman GA, Mets M, Musarella MA, Boycott KM.
    Nat Genet; 1998 Jul; 19(3):264-7. PubMed ID: 9662400
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  • 30. Peripheral cone dystrophy: a variant of cone dystrophy with predominant dysfunction in the peripheral cone system.
    Kondo M, Miyake Y, Kondo N, Ueno S, Takakuwa H, Terasaki H.
    Ophthalmology; 2004 Apr; 111(4):732-9. PubMed ID: 15051206
    [Abstract] [Full Text] [Related]

  • 31. Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.
    Hayashi T, Gekka T, Goto-Omoto S, Takeuchi T, Kubo A, Kitahara K.
    Ophthalmology; 2005 Dec; 112(12):2115. PubMed ID: 16225923
    [Abstract] [Full Text] [Related]

  • 32. 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; 136(2):135-143. PubMed ID: 29525873
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  • 33. Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis.
    Seeliger MW, Biesalski HK, Wissinger B, Gollnick H, Gielen S, Frank J, Beck S, Zrenner E.
    Invest Ophthalmol Vis Sci; 1999 Jan; 40(1):3-11. PubMed ID: 9888420
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  • 34. Rod-cone dystrophy with maculopathy in genetic glutathione synthetase deficiency: a morphologic and electrophysiologic study.
    Burstedt MS, Ristoff E, Larsson A, Wachtmeister L.
    Ophthalmology; 2009 Feb; 116(2):324-31. PubMed ID: 19111905
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  • 35. Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.
    Neidhardt J, Barthelmes D, Farahmand F, Fleischhauer JC, Berger W.
    Invest Ophthalmol Vis Sci; 2006 Apr; 47(4):1630-5. PubMed ID: 16565402
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  • 36. A novel CACNA1F gene mutation causes Aland Island eye disease.
    Jalkanen R, Bech-Hansen NT, Tobias R, Sankila EM, Mäntyjärvi M, Forsius H, de la Chapelle A, Alitalo T.
    Invest Ophthalmol Vis Sci; 2007 Jun; 48(6):2498-502. PubMed ID: 17525176
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  • 37. A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.
    Nakamura M, Hotta Y, Tanikawa A, Terasaki H, Miyake Y.
    Invest Ophthalmol Vis Sci; 2000 Nov; 41(12):3925-32. PubMed ID: 11053295
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  • 38. Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.
    Zeitz C, van Genderen M, Neidhardt J, Luhmann UF, Hoeben F, Forster U, Wycisk K, Mátyás G, Hoyng CB, Riemslag F, Meire F, Cremers FP, Berger W.
    Invest Ophthalmol Vis Sci; 2005 Nov; 46(11):4328-35. PubMed ID: 16249515
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  • 39. Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis.
    Milam AH, Barakat MR, Gupta N, Rose L, Aleman TS, Pianta MJ, Cideciyan AV, Sheffield VC, Stone EM, Jacobson SG.
    Ophthalmology; 2003 Mar; 110(3):549-58. PubMed ID: 12623820
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  • 40. Long-term follow-up of the human phenotype in three siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2.
    Friedburg C, Wissinger B, Schambeck M, Bonin M, Kohl S, Lorenz B.
    Invest Ophthalmol Vis Sci; 2011 Nov 07; 52(12):8621-9. PubMed ID: 21911584
    [Abstract] [Full Text] [Related]

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