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97 related items for PubMed ID: 31438752

  • 1. Severe retinitis pigmentosa with posterior staphyloma in a family with c.886C>A p.(Lys296Glu) RHO mutation.
    Smirnov VM, Marks C, Drumare I, Defoort-Dhellemmes S, Dhaenens CM.
    Ophthalmic Genet; 2019 Aug; 40(4):365-368. PubMed ID: 31438752
    [Abstract] [Full Text] [Related]

  • 2. Posterior staphylomas in non-highly myopic eyes with retinitis pigmentosa.
    El Matri L, Falfoul Y, El Matri K, El Euch I, Ghali H, Habibi I, Hassairi A, Chaker N, Schorderet D, Chebil A.
    Int Ophthalmol; 2020 Sep; 40(9):2159-2168. PubMed ID: 32358734
    [Abstract] [Full Text] [Related]

  • 3. Ultrawide-Field OCT to Investigate Relationships between Myopic Macular Retinoschisis and Posterior Staphyloma.
    Shinohara K, Tanaka N, Jonas JB, Shimada N, Moriyama M, Yoshida T, Ohno-Matsui K.
    Ophthalmology; 2018 Oct; 125(10):1575-1586. PubMed ID: 29716783
    [Abstract] [Full Text] [Related]

  • 4. Association of p.P347L in the rhodopsin gene with early-onset cystoid macular edema in patients with retinitis pigmentosa.
    Kim C, Chung H, Yu HG.
    Ophthalmic Genet; 2012 Jun; 33(2):96-9. PubMed ID: 22217031
    [Abstract] [Full Text] [Related]

  • 5. Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study.
    Nishiguchi KM, Ikeda Y, Fujita K, Kunikata H, Akiho M, Hashimoto K, Hosono K, Kurata K, Koyanagi Y, Akiyama M, Suzuki T, Kawasaki R, Wada Y, Hotta Y, Sonoda KH, Murakami A, Nakazawa M, Nakazawa T, Abe T.
    Ophthalmology; 2019 Nov; 126(11):1557-1566. PubMed ID: 31257036
    [Abstract] [Full Text] [Related]

  • 6. Autosomal-dominant retinitis pigmentosa associated with an Arg-135-Trp point mutation of the rhodopsin gene. Clinical features and longitudinal observations.
    Pannarale MR, Grammatico B, Iannaccone A, Forte R, DeBernardo C, Flagiello L, Vingolo EM, Del Porto G.
    Ophthalmology; 1996 Sep; 103(9):1443-52. PubMed ID: 8841304
    [Abstract] [Full Text] [Related]

  • 7. Clinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation.
    Lee J, Scanga HL, Dansingani KK, Taubenslag KJ, Zlotcavitch L, Chauhan BK, Sylvester CL, Morton DH, Nischal KK.
    Ophthalmic Genet; 2018 Dec; 39(6):735-740. PubMed ID: 30444160
    [Abstract] [Full Text] [Related]

  • 8. Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosa.
    Millá E, Héon E, Grounauer PA, Piguet B, Ducrey N, Stone EM, Schorderet DF, Munier FL.
    Ophthalmic Genet; 1998 Sep; 19(3):131-9. PubMed ID: 9810568
    [Abstract] [Full Text] [Related]

  • 9. Severe retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene.
    Kousal B, Skalicka P, Valesova L, Fletcher T, Hart-Holden N, O'Grady A, Chakarova CF, Michaelides M, Hardcastle AJ, Liskova P.
    Mol Vis; 2014 Sep; 20():1307-17. PubMed ID: 25352739
    [Abstract] [Full Text] [Related]

  • 10. Dominant retinitis pigmentosa associated with two rhodopsin gene mutations. Leu-40-Arg and an insertion disrupting the 5'-splice junction of exon 5.
    Kim RY, al-Maghtheh M, Fitzke FW, Arden GB, Jay M, Bhattacharya SS, Bird AC.
    Arch Ophthalmol; 1993 Nov; 111(11):1518-24. PubMed ID: 8240108
    [Abstract] [Full Text] [Related]

  • 11. The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family.
    Reiff C, Owczarek-Lipska M, Spital G, Röger C, Hinz H, Jüschke C, Thiele H, Altmüller J, Nürnberg P, Da Costa R, Neidhardt J.
    Sci Rep; 2016 Nov 04; 6():36208. PubMed ID: 27812022
    [Abstract] [Full Text] [Related]

  • 12. Ocular findings associated with a rhodopsin gene codon 106 mutation. Glycine-to-arginine change in autosomal dominant retinitis pigmentosa.
    Fishman GA, Stone EM, Gilbert LD, Sheffield VC.
    Arch Ophthalmol; 1992 May 04; 110(5):646-53. PubMed ID: 1580841
    [Abstract] [Full Text] [Related]

  • 13. Coexistence of Posterior Staphyloma, Retinitis Pigmentosa and Moderate Myopia.
    Ilhan A, Yolcu U, Diner O, Uzun S, Gundogan FC.
    J Coll Physicians Surg Pak; 2016 Jan 04; 26(1):70-1. PubMed ID: 26787037
    [Abstract] [Full Text] [Related]

  • 14. Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa.
    Oh KT, Oh DM, Weleber RG, Stone EM, Parikh A, White J, Deboer-Shields KA, Streb L, Vallar C.
    Br J Ophthalmol; 2004 Dec 04; 88(12):1533-7. PubMed ID: 15548806
    [Abstract] [Full Text] [Related]

  • 15. Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa.
    Abdulridha-Aboud W, Kjellström U, Andréasson S, Ponjavic V.
    Mol Vis; 2016 Dec 04; 22():362-73. PubMed ID: 27212874
    [Abstract] [Full Text] [Related]

  • 16. Ocular manifestations in autosomal dominant retinitis pigmentosa with a Lys-296-Glu rhodopsin mutation at the retinal binding site.
    Owens SL, Fitzke FW, Inglehearn CF, Jay M, Keen TJ, Arden GB, Bhattacharya SS, Bird AC.
    Br J Ophthalmol; 1994 May 04; 78(5):353-8. PubMed ID: 8025068
    [Abstract] [Full Text] [Related]

  • 17. Disruption of conserved rhodopsin disulfide bond by Cys187Tyr mutation causes early and severe autosomal dominant retinitis pigmentosa.
    Richards JE, Scott KM, Sieving PA.
    Ophthalmology; 1995 Apr 04; 102(4):669-77. PubMed ID: 7724183
    [Abstract] [Full Text] [Related]

  • 18. Autosomal dominant retinitis pigmentosa in a large family: a clinical and molecular genetic study.
    Rosas DJ, Roman AJ, Weissbrod P, Macke JP, Nathans J.
    Invest Ophthalmol Vis Sci; 1994 Jul 04; 35(8):3134-44. PubMed ID: 8045708
    [Abstract] [Full Text] [Related]

  • 19. Rhodopsin gene codon 106 mutation (Gly-to-Arg) in a Japanese family with autosomal dominant retinitis pigmentosa.
    Budu, Matsumoto M, Hayasaka S, Yamada T, Hayasaka Y.
    Jpn J Ophthalmol; 2000 Jul 04; 44(6):610-4. PubMed ID: 11094174
    [Abstract] [Full Text] [Related]

  • 20. Thr4Lys rhodopsin mutation is associated with autosomal dominant retinitis pigmentosa of the cone-rod type in a small Dutch family.
    van den Born LI, van Schooneveld MJ, de Jong LA, Riemslag FC, de Jong PT, Gal A, Bleeker-Wagemakers EM.
    Ophthalmic Genet; 1994 Jun 04; 15(2):51-60. PubMed ID: 7850269
    [Abstract] [Full Text] [Related]

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