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

268 related items for PubMed ID: 10845615

  • 1. Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa.
    Jacobson SG, Cideciyan AV, Iannaccone A, Weleber RG, Fishman GA, Maguire AM, Affatigato LM, Bennett J, Pierce EA, Danciger M, Farber DB, Stone EM.
    Invest Ophthalmol Vis Sci; 2000 Jun; 41(7):1898-908. PubMed ID: 10845615
    [Abstract] [Full Text] [Related]

  • 2. Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1).
    Berson EL, Grimsby JL, Adams SM, McGee TL, Sweklo E, Pierce EA, Sandberg MA, Dryja TP.
    Invest Ophthalmol Vis Sci; 2001 Sep; 42(10):2217-24. PubMed ID: 11527933
    [Abstract] [Full Text] [Related]

  • 3. Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene.
    Jacobson SG, Buraczynska M, Milam AH, Chen C, Järvaläinen M, Fujita R, Wu W, Huang Y, Cideciyan AV, Swaroop A.
    Invest Ophthalmol Vis Sci; 1997 Sep; 38(10):1983-97. PubMed ID: 9331262
    [Abstract] [Full Text] [Related]

  • 4. Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene.
    Jacobson SG, Cideciyan AV, Huang Y, Hanna DB, Freund CL, Affatigato LM, Carr RE, Zack DJ, Stone EM, McInnes RR.
    Invest Ophthalmol Vis Sci; 1998 Nov; 39(12):2417-26. PubMed ID: 9804150
    [Abstract] [Full Text] [Related]

  • 5. Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.
    Gamundi MJ, Hernan I, Martínez-Gimeno M, Maseras M, García-Sandoval B, Ayuso C, Antiñolo G, Baiget M, Carballo M.
    BMC Med Genet; 2006 Apr 05; 7():35. PubMed ID: 16597330
    [Abstract] [Full Text] [Related]

  • 6. Phenotypes of stop codon and splice site rhodopsin mutations causing retinitis pigmentosa.
    Jacobson SG, Kemp CM, Cideciyan AV, Macke JP, Sung CH, Nathans J.
    Invest Ophthalmol Vis Sci; 1994 Apr 05; 35(5):2521-34. PubMed ID: 8163341
    [Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8. Normal central retinal function and structure preserved in retinitis pigmentosa.
    Jacobson SG, Roman AJ, Aleman TS, Sumaroka A, Herrera W, Windsor EA, Atkinson LA, Schwartz SB, Steinberg JD, Cideciyan AV.
    Invest Ophthalmol Vis Sci; 2010 Feb 05; 51(2):1079-85. PubMed ID: 19797198
    [Abstract] [Full Text] [Related]

  • 9. X-linked retinitis pigmentosa: functional phenotype of an RP2 genotype.
    Jacobson SG, Roman AJ, Cideciyan AV, Robey MG, Iwata T, Inana G.
    Invest Ophthalmol Vis Sci; 1992 Dec 05; 33(13):3481-92. PubMed ID: 1464493
    [Abstract] [Full Text] [Related]

  • 10. 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 05; 46(5):1735-41. PubMed ID: 15851576
    [Abstract] [Full Text] [Related]

  • 11. Concentric retinitis pigmentosa: clinicopathologic correlations.
    Milam AH, De Castro EB, Smith JE, Tang WX, John SK, Gorin MB, Stone EM, Aguirre GD, Jacobson SG.
    Exp Eye Res; 2001 Oct 05; 73(4):493-508. PubMed ID: 11825021
    [Abstract] [Full Text] [Related]

  • 12. CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.
    Aleman TS, Soumittra N, Cideciyan AV, Sumaroka AM, Ramprasad VL, Herrera W, Windsor EA, Schwartz SB, Russell RC, Roman AJ, Inglehearn CF, Kumaramanickavel G, Stone EM, Fishman GA, Jacobson SG.
    Invest Ophthalmol Vis Sci; 2009 Dec 05; 50(12):5944-54. PubMed ID: 19578027
    [Abstract] [Full Text] [Related]

  • 13. De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa.
    Schwartz SB, Aleman TS, Cideciyan AV, Swaroop A, Jacobson SG, Stone EM.
    Invest Ophthalmol Vis Sci; 2003 Aug 05; 44(8):3593-7. PubMed ID: 12882812
    [Abstract] [Full Text] [Related]

  • 14. RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.
    Audo I, Mohand-Saïd S, Dhaenens CM, Germain A, Orhan E, Antonio A, Hamel C, Sahel JA, Bhattacharya SS, Zeitz C.
    Hum Mutat; 2012 Jan 05; 33(1):73-80. PubMed ID: 22052604
    [Abstract] [Full Text] [Related]

  • 15. Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.
    Herrera W, Aleman TS, Cideciyan AV, Roman AJ, Banin E, Ben-Yosef T, Gardner LM, Sumaroka A, Windsor EA, Schwartz SB, Stone EM, Liu XZ, Kimberling WJ, Jacobson SG.
    Invest Ophthalmol Vis Sci; 2008 Jun 05; 49(6):2651-60. PubMed ID: 18281613
    [Abstract] [Full Text] [Related]

  • 16. Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa.
    Chen LJ, Lai TY, Tam PO, Chiang SW, Zhang X, Lam S, Lai RY, Lam DS, Pang CP.
    Invest Ophthalmol Vis Sci; 2010 Apr 05; 51(4):2236-42. PubMed ID: 19933189
    [Abstract] [Full Text] [Related]

  • 17. Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations.
    Sandberg MA, Rosner B, Weigel-DiFranco C, Dryja TP, Berson EL.
    Invest Ophthalmol Vis Sci; 2007 Mar 05; 48(3):1298-304. PubMed ID: 17325176
    [Abstract] [Full Text] [Related]

  • 18. Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.
    Riazuddin SA, Zulfiqar F, Zhang Q, Sergeev YV, Qazi ZA, Husnain T, Caruso R, Riazuddin S, Sieving PA, Hejtmancik JF.
    Invest Ophthalmol Vis Sci; 2005 Jul 05; 46(7):2264-70. PubMed ID: 15980210
    [Abstract] [Full Text] [Related]

  • 19. RP1 protein truncating mutations predominate at the RP1 adRP locus.
    Payne A, Vithana E, Khaliq S, Hameed A, Deller J, Abu-Safieh L, Kermani S, Leroy BP, Mehdi SQ, Moore AT, Bird AC, Bhattacharya SS.
    Invest Ophthalmol Vis Sci; 2000 Dec 05; 41(13):4069-73. PubMed ID: 11095597
    [Abstract] [Full Text] [Related]

  • 20. 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 05; 35(8):3134-44. PubMed ID: 8045708
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 14.