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Journal Abstract Search

196 related items for PubMed ID: 11379879

  • 1. Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa.
    Bareil C, Hamel CP, Delague V, Arnaud B, Demaille J, Claustres M.
    Hum Genet; 2001 Apr; 108(4):328-34. PubMed ID: 11379879
    [Abstract] [Full Text] [Related]

  • 2. Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.
    Dryja TP, Finn JT, Peng YW, McGee TL, Berson EL, Yau KW.
    Proc Natl Acad Sci U S A; 1995 Oct 24; 92(22):10177-81. PubMed ID: 7479749
    [Abstract] [Full Text] [Related]

  • 3. Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.
    Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Ahmad Z, Riazuddin S, Hejtmancik JF.
    Mol Vis; 2004 Nov 17; 10():884-9. PubMed ID: 15570217
    [Abstract] [Full Text] [Related]

  • 4. Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase.
    Huang SH, Pittler SJ, Huang X, Oliveira L, Berson EL, Dryja TP.
    Nat Genet; 1995 Dec 17; 11(4):468-71. PubMed ID: 7493036
    [Abstract] [Full Text] [Related]

  • 5. A large animal model for CNGB1 autosomal recessive retinitis pigmentosa.
    Winkler PA, Ekenstedt KJ, Occelli LM, Frattaroli AV, Bartoe JT, Venta PJ, Petersen-Jones SM.
    PLoS One; 2013 Dec 17; 8(8):e72229. PubMed ID: 23977260
    [Abstract] [Full Text] [Related]

  • 6. Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa.
    Paloma E, Martínez-Mir A, García-Sandoval B, Ayuso C, Vilageliu L, Gonzàlez-Duarte R, Balcells S.
    J Med Genet; 2002 Oct 17; 39(10):E66. PubMed ID: 12362048
    [No Abstract] [Full Text] [Related]

  • 7. Identification of a CNGB1 Frameshift Mutation in a Han Chinese Family with Retinitis Pigmentosa.
    Xiang Q, Guo Y, Cao Y, Xiong W, Deng X, Xu H, Li Y, Du D, Deng H.
    Optom Vis Sci; 2018 Dec 17; 95(12):1155-1161. PubMed ID: 30451805
    [Abstract] [Full Text] [Related]

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  • 9. Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa.
    Dryja TP, Rucinski DE, Chen SH, Berson EL.
    Invest Ophthalmol Vis Sci; 1999 Jul 17; 40(8):1859-65. PubMed ID: 10393062
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  • 11. A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.
    Kondo H, Qin M, Mizota A, Kondo M, Hayashi H, Hayashi K, Oshima K, Tahira T, Hayashi K.
    Invest Ophthalmol Vis Sci; 2004 Dec 17; 45(12):4433-9. PubMed ID: 15557452
    [Abstract] [Full Text] [Related]

  • 12. An intersubunit interaction regulates trafficking of rod cyclic nucleotide-gated channels and is disrupted in an inherited form of blindness.
    Trudeau MC, Zagotta WN.
    Neuron; 2002 Apr 11; 34(2):197-207. PubMed ID: 11970862
    [Abstract] [Full Text] [Related]

  • 13. Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate.
    Downey LM, Keen TJ, Jalili IK, McHale J, Aldred MJ, Robertson SP, Mighell A, Fayle S, Wissinger B, Inglehearn CF.
    Eur J Hum Genet; 2002 Dec 11; 10(12):865-9. PubMed ID: 12461695
    [Abstract] [Full Text] [Related]

  • 14. Genotypic and Phenotypic Characterization of a Cohort of Patients Affected by Rod Cyclic Nucleotide Channel-Associated Retinitis Pigmentosa.
    Colombo L, Bonetti G, Maltese PE, Iarossi G, Ziccardi L, Fogagnolo P, De Ruvo V, Murro V, Giorgio D, Falsini B, Placidi G, Martella S, Galantin E, Bertelli M, Rossetti L.
    Ophthalmic Res; 2024 Dec 11; 67(1):301-310. PubMed ID: 38705136
    [Abstract] [Full Text] [Related]

  • 15. Impaired channel targeting and retinal degeneration in mice lacking the cyclic nucleotide-gated channel subunit CNGB1.
    Hüttl S, Michalakis S, Seeliger M, Luo DG, Acar N, Geiger H, Hudl K, Mader R, Haverkamp S, Moser M, Pfeifer A, Gerstner A, Yau KW, Biel M.
    J Neurosci; 2005 Jan 05; 25(1):130-8. PubMed ID: 15634774
    [Abstract] [Full Text] [Related]

  • 16. Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa.
    den Hollander AI, van Lith-Verhoeven JJ, Arends ML, Strom TM, Cremers FP, Hoyng CB.
    Arch Ophthalmol; 2007 Jul 05; 125(7):932-5. PubMed ID: 17620573
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  • 18. Homozygosity mapping of autosomal recessive retinitis pigmentosa locus (RP22) on chromosome 16p12.1-p12.3.
    Finckh U, Xu S, Kumaramanickavel G, Schürmann M, Mukkadan JK, Fernandez ST, John S, Weber JL, Denton MJ, Gal A.
    Genomics; 1998 Mar 15; 48(3):341-5. PubMed ID: 9545639
    [Abstract] [Full Text] [Related]

  • 19. Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.
    McLaughlin ME, Ehrhart TL, Berson EL, Dryja TP.
    Proc Natl Acad Sci U S A; 1995 Apr 11; 92(8):3249-53. PubMed ID: 7724547
    [Abstract] [Full Text] [Related]

  • 20. A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa.
    Li L, Nakaya N, Chavali VR, Ma Z, Jiao X, Sieving PA, Riazuddin S, Tomarev SI, Ayyagari R, Riazuddin SA, Hejtmancik JF.
    Am J Hum Genet; 2010 Sep 10; 87(3):400-9. PubMed ID: 20797688
    [Abstract] [Full Text] [Related]

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