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Journal Abstract Search

493 related items for PubMed ID: 11095629

  • 61. Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively.
    Thompson DA, McHenry CL, Li Y, Richards JE, Othman MI, Schwinger E, Vollrath D, Jacobson SG, Gal A.
    Am J Hum Genet; 2002 Jan; 70(1):224-9. PubMed ID: 11727200
    [Abstract] [Full Text] [Related]

  • 62. Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients.
    Xu F, Dong Q, Liu L, Li H, Liang X, Jiang R, Sui R, Dong F.
    Mol Vis; 2012 Jan; 18():744-50. PubMed ID: 22509104
    [Abstract] [Full Text] [Related]

  • 63. RPE65 mutations in Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa from a tertiary eye care center in India.
    Parameswarappa DC, Bagga DK, Upadhyaya A, Balasubramanian J, Pochaboina V, Muthineni V, Jalali S, Kannabiran C.
    Ophthalmic Genet; 2024 Jun; 45(3):303-312. PubMed ID: 38323530
    [Abstract] [Full Text] [Related]

  • 64. Successful RPE65 gene replacement and improved visual function in humans.
    Koenekoop RK.
    Ophthalmic Genet; 2008 Sep; 29(3):89-91. PubMed ID: 18766986
    [Abstract] [Full Text] [Related]

  • 65. Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation.
    Aguirre GK, Komáromy AM, Cideciyan AV, Brainard DH, Aleman TS, Roman AJ, Avants BB, Gee JC, Korczykowski M, Hauswirth WW, Acland GM, Aguirre GD, Jacobson SG.
    PLoS Med; 2007 Jun; 4(6):e230. PubMed ID: 17594175
    [Abstract] [Full Text] [Related]

  • 66. New views on RPE65 deficiency: the rod system is the source of vision in a mouse model of Leber congenital amaurosis.
    Seeliger MW, Grimm C, Ståhlberg F, Friedburg C, Jaissle G, Zrenner E, Guo H, Remé CE, Humphries P, Hofmann F, Biel M, Fariss RN, Redmond TM, Wenzel A.
    Nat Genet; 2001 Sep; 29(1):70-4. PubMed ID: 11528395
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  • 67. Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.
    Simonelli F, Ziviello C, Testa F, Rossi S, Fazzi E, Bianchi PE, Fossarello M, Signorini S, Bertone C, Galantuomo S, Brancati F, Valente EM, Ciccodicola A, Rinaldi E, Auricchio A, Banfi S.
    Invest Ophthalmol Vis Sci; 2007 Sep; 48(9):4284-90. PubMed ID: 17724218
    [Abstract] [Full Text] [Related]

  • 68. Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations.
    Hull S, Holder GE, Robson AG, Mukherjee R, Michaelides M, Webster AR, Moore AT.
    Br J Ophthalmol; 2016 Nov; 100(11):1499-1505. PubMed ID: 26906952
    [Abstract] [Full Text] [Related]

  • 69. Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.
    Pasadhika S, Fishman GA, Stone EM, Lindeman M, Zelkha R, Lopez I, Koenekoop RK, Shahidi M.
    Invest Ophthalmol Vis Sci; 2010 May; 51(5):2608-14. PubMed ID: 19959640
    [Abstract] [Full Text] [Related]

  • 70. Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations.
    Jacobson SG, Aleman TS, Cideciyan AV, Roman AJ, Sumaroka A, Windsor EA, Schwartz SB, Heon E, Stone EM.
    Invest Ophthalmol Vis Sci; 2009 May; 50(5):2368-75. PubMed ID: 19117922
    [Abstract] [Full Text] [Related]

  • 71. Clinical and molecular characterization of enhanced S-cone syndrome in children.
    Hull S, Arno G, Sergouniotis PI, Tiffin P, Borman AD, Chandra A, Robson AG, Holder GE, Webster AR, Moore AT.
    JAMA Ophthalmol; 2014 Nov; 132(11):1341-9. PubMed ID: 25079116
    [Abstract] [Full Text] [Related]

  • 72. Prevalence of AIPL1 mutations in inherited retinal degenerative disease.
    Sohocki MM, Perrault I, Leroy BP, Payne AM, Dharmaraj S, Bhattacharya SS, Kaplan J, Maumenee IH, Koenekoop R, Meire FM, Birch DG, Heckenlively JR, Daiger SP.
    Mol Genet Metab; 2000 Jun; 70(2):142-50. PubMed ID: 10873396
    [Abstract] [Full Text] [Related]

  • 73. Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis.
    Sénéchal A, Humbert G, Surget MO, Bazalgette C, Bazalgette C, Arnaud B, Arndt C, Laurent E, Brabet P, Hamel CP.
    Am J Ophthalmol; 2006 Oct; 142(4):702-4. PubMed ID: 17011878
    [Abstract] [Full Text] [Related]

  • 74. A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy.
    Glen WB, Peterseim MMW, Badilla R, Znoyko I, Bourg A, Wilson R, Hardiman G, Wolff D, Martinez J.
    Ophthalmic Genet; 2019 Apr; 40(2):110-117. PubMed ID: 30870047
    [Abstract] [Full Text] [Related]

  • 75. Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes.
    Yücel-Yılmaz D, Tarlan B, Kıratlı H, Ozgül RK.
    DNA Cell Biol; 2014 Dec; 33(12):876-83. PubMed ID: 25148430
    [Abstract] [Full Text] [Related]

  • 76. Divergent phenotypes of vision and accessory visual function in mice with visual cycle dysfunction (Rpe65 rd12) or retinal degeneration (rd/rd).
    Thompson S, Mullins RF, Philp AR, Stone EM, Mrosovsky N.
    Invest Ophthalmol Vis Sci; 2008 Jun; 49(6):2737-42. PubMed ID: 18515598
    [Abstract] [Full Text] [Related]

  • 77. 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
    [Abstract] [Full Text] [Related]

  • 78. Analysis of three genes in Leber congenital amaurosis in Indonesian patients.
    Sitorus RS, Lorenz B, Preising MN.
    Vision Res; 2003 Dec; 43(28):3087-93. PubMed ID: 14611946
    [Abstract] [Full Text] [Related]

  • 79. Cone-rod dystrophy caused by a novel homozygous RPE65 mutation in Leber congenital amaurosis.
    Jakobsson C, Othman IS, Munier FL, Schorderet DF, Abouzeid H.
    Klin Monbl Augenheilkd; 2014 Apr; 231(4):405-10. PubMed ID: 24771178
    [Abstract] [Full Text] [Related]

  • 80. The Consequences of Hypomorphic RPE65 for Rod and Cone Photoreceptors.
    Samardzija M, Barben M, Geiger P, Grimm C.
    Adv Exp Med Biol; 2016 Apr; 854():341-6. PubMed ID: 26427430
    [Abstract] [Full Text] [Related]

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