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Journal Abstract Search

228 related items for PubMed ID: 19339744

  • 21. Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis.
    Avila-Fernandez A, Corton M, Nishiguchi KM, Muñoz-Sanz N, Benavides-Mori B, Blanco-Kelly F, Riveiro-Alvarez R, Garcia-Sandoval B, Rivolta C, Ayuso C.
    Ophthalmology; 2012 Dec; 119(12):2616-21. PubMed ID: 22917891
    [Abstract] [Full Text] [Related]

  • 22. A novel nonsense mutation in rhodopsin gene in two Indonesian families with autosomal recessive retinitis pigmentosa.
    Kartasasmita A, Fujiki K, Iskandar E, Sovani I, Fujimaki T, Murakami A.
    Ophthalmic Genet; 2011 Mar; 32(1):57-63. PubMed ID: 21174529
    [Abstract] [Full Text] [Related]

  • 23. Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.
    Zhou Y, Saikia BB, Jiang Z, Zhu X, Liu Y, Huang L, Kim R, Yang Y, Qu C, Hao F, Gong B, Tai Z, Niu L, Yang Z, Sundaresan P, Zhu X.
    J Hum Genet; 2015 Oct; 60(10):625-30. PubMed ID: 26246154
    [Abstract] [Full Text] [Related]

  • 24. Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family.
    Siemiatkowska AM, Astuti GD, Arimadyo K, den Hollander AI, Faradz SM, Cremers FP, Collin RW.
    Mol Vis; 2012 Oct; 18():2411-9. PubMed ID: 23077400
    [Abstract] [Full Text] [Related]

  • 25. Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa.
    Kurata K, Hosono K, Hotta Y.
    Doc Ophthalmol; 2018 Aug; 137(1):47-56. PubMed ID: 30027431
    [Abstract] [Full Text] [Related]

  • 26. Application of a high-throughput genotyping method for loci exclusion in non-consanguineous Australian pedigrees with autosomal recessive retinitis pigmentosa.
    Paterson RL, De Roach JN, McLaren TL, Hewitt AW, Hoffmann L, Lamey TM.
    Mol Vis; 2012 Aug; 18():2043-52. PubMed ID: 22876132
    [Abstract] [Full Text] [Related]

  • 27. 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]

  • 28. Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family.
    Zobor D, Balousha G, Baumann B, Wissinger B.
    Mol Vis; 2014 Mar 15; 20():178-82. PubMed ID: 24520187
    [Abstract] [Full Text] [Related]

  • 29. Whole exome sequencing reveals novel EYS mutations in Chinese patients with autosomal recessive retinitis pigmentosa.
    Xiao X, Cao Y, Chen S, Chen M, Mai X, Zheng Y, Zhuang X, Ng TK, Chen H.
    Mol Vis; 2019 Mar 15; 25():35-46. PubMed ID: 30804660
    [Abstract] [Full Text] [Related]

  • 30. Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.
    Beryozkin A, Zelinger L, Bandah-Rozenfeld D, Shevach E, Harel A, Storm T, Sagi M, Eli D, Merin S, Banin E, Sharon D.
    Invest Ophthalmol Vis Sci; 2014 Feb 24; 55(2):1149-60. PubMed ID: 24474277
    [Abstract] [Full Text] [Related]

  • 31. A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa.
    den Hollander AI, McGee TL, Ziviello C, Banfi S, Dryja TP, Gonzalez-Fernandez F, Ghosh D, Berson EL.
    Invest Ophthalmol Vis Sci; 2009 Apr 24; 50(4):1864-72. PubMed ID: 19074801
    [Abstract] [Full Text] [Related]

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  • 33. Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.
    Pierrache LHM, Kimchi A, Ratnapriya R, Roberts L, Astuti GDN, Obolensky A, Beryozkin A, Tjon-Fo-Sang MJH, Schuil J, Klaver CCW, Bongers EMHF, Haer-Wigman L, Schalij N, Breuning MH, Fischer GM, Banin E, Ramesar RS, Swaroop A, van den Born LI, Sharon D, Cremers FPM.
    Ophthalmology; 2017 Jul 24; 124(7):992-1003. PubMed ID: 28412069
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  • 35. Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.
    Beheshtian M, Saee Rad S, Babanejad M, Mohseni M, Hashemi H, Eshghabadi A, Hajizadeh F, Akbari MR, Kahrizi K, Riazi Esfahani M, Najmabadi H.
    Arch Iran Med; 2015 Nov 24; 18(11):776-85. PubMed ID: 26497376
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  • 37. Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa.
    Ali S, Riazuddin SA, Shahzadi A, Nasir IA, Khan SN, Husnain T, Akram J, Sieving PA, Hejtmancik JF, Riazuddin S.
    Mol Vis; 2011 Nov 24; 17():1373-80. PubMed ID: 21655355
    [Abstract] [Full Text] [Related]

  • 38. Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.
    Katagiri S, Akahori M, Sergeev Y, Yoshitake K, Ikeo K, Furuno M, Hayashi T, Kondo M, Ueno S, Tsunoda K, Shinoda K, Kuniyoshi K, Tsurusaki Y, Matsumoto N, Tsuneoka H, Iwata T.
    PLoS One; 2014 Nov 24; 9(9):e108721. PubMed ID: 25268133
    [Abstract] [Full Text] [Related]

  • 39. Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.
    Li L, Chen Y, Jiao X, Jin C, Jiang D, Tanwar M, Ma Z, Huang L, Ma X, Sun W, Chen J, Ma Y, M'hamdi O, Govindarajan G, Cabrera PE, Li J, Gupta N, Naeem MA, Khan SN, Riazuddin S, Akram J, Ayyagari R, Sieving PA, Riazuddin SA, Hejtmancik JF.
    Invest Ophthalmol Vis Sci; 2017 Apr 01; 58(4):2218-2238. PubMed ID: 28418496
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