These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

338 related items for PubMed ID: 16214101

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2. Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene.
    Schatz P, Ponjavic V, Andréasson S, McGee TL, Dryja TP, Abrahamson M.
    Ophthalmic Genet; 2005 Sep; 26(3):119-24. PubMed ID: 16272056
    [Abstract] [Full Text] [Related]

  • 3. Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.
    Wada Y, Sandberg MA, McGee TL, Stillberger MA, Berson EL, Dryja TP.
    Invest Ophthalmol Vis Sci; 2005 May; 46(5):1735-41. PubMed ID: 15851576
    [Abstract] [Full Text] [Related]

  • 4. Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7.
    Wen Y, Locke KG, Klein M, Bowne SJ, Sullivan LS, Ray JW, Daiger SP, Birch DG, Hughbanks-Wheaton DK.
    Arch Ophthalmol; 2011 Nov; 129(11):1475-82. PubMed ID: 22084217
    [Abstract] [Full Text] [Related]

  • 5.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 6. A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa.
    Grover S, Fishman GA, Stone EM.
    Ophthalmology; 2004 Oct; 111(10):1910-6. PubMed ID: 15465556
    [Abstract] [Full Text] [Related]

  • 7. Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation.
    Lines MA, Hébert M, McTaggart KE, Flynn SJ, Tennant MT, MacDonald IM.
    Ophthalmology; 2002 Oct; 109(10):1862-70. PubMed ID: 12359607
    [Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 9.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 10. Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study.
    Talib M, van Schooneveld MJ, van Genderen MM, Wijnholds J, Florijn RJ, Ten Brink JB, Schalij-Delfos NE, Dagnelie G, Cremers FPM, Wolterbeek R, Fiocco M, Thiadens AA, Hoyng CB, Klaver CC, Bergen AA, Boon CJF.
    Ophthalmology; 2017 Jun; 124(6):884-895. PubMed ID: 28341475
    [Abstract] [Full Text] [Related]

  • 11. Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS.
    Ekström U, Ponjavic V, Abrahamson M, Nilsson-Ehle P, Andrëasson S, Stenström I, Ehinger B.
    Ophthalmic Genet; 1998 Mar; 19(1):27-37. PubMed ID: 9587927
    [Abstract] [Full Text] [Related]

  • 12. Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.
    Bowne SJ, Sullivan LS, Blanton SH, Cepko CL, Blackshaw S, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Daiger SP.
    Hum Mol Genet; 2002 Mar 01; 11(5):559-68. PubMed ID: 11875050
    [Abstract] [Full Text] [Related]

  • 13. An unusual retinal phenotype associated with a novel mutation in RHO.
    Audo I, Friedrich A, Mohand-Saïd S, Lancelot ME, Antonio A, Moskova-Doumanova V, Poch O, Bhattacharya S, Sahel JA, Zeitz C.
    Arch Ophthalmol; 2010 Aug 01; 128(8):1036-45. PubMed ID: 20697005
    [Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18. Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179F.
    Grøndahl J, Riise R, Heiberg A, Leren T, Christoffersen T, Bragadottir R.
    Acta Ophthalmol Scand; 2007 May 01; 85(3):287-97. PubMed ID: 17488458
    [Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20. IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.
    van Huet RA, Collin RW, Siemiatkowska AM, Klaver CC, Hoyng CB, Simonelli F, Khan MI, Qamar R, Banin E, Cremers FP, Theelen T, den Hollander AI, van den Born LI, Klevering BJ.
    Invest Ophthalmol Vis Sci; 2014 May 29; 55(6):3939-53. PubMed ID: 24876279
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 17.