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

734 related items for PubMed ID: 27082927

  • 1. Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa.
    Liu S, Xie L, Yue J, Ma T, Peng C, Qiu B, Yang Z, Yang J.
    Int J Mol Med; 2016 Jun; 37(6):1528-34. PubMed ID: 27082927
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa.
    Chacon-Camacho OF, Jitskii S, Buentello-Volante B, Quevedo-Martinez J, Zenteno JC.
    Gene; 2013 Oct 10; 528(2):178-82. PubMed ID: 23900199
    [Abstract] [Full Text] [Related]

  • 4. 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 Oct 10; 25():35-46. PubMed ID: 30804660
    [Abstract] [Full Text] [Related]

  • 5. A novel mutation in RDH5 gene causes retinitis pigmentosa in consanguineous Pakistani family.
    Sultan N, Ali I, Bukhari SA, Baig SM, Asif M, Qasim M, Naseer MI, Rasool M.
    Genes Genomics; 2018 May 10; 40(5):553-559. PubMed ID: 29892959
    [Abstract] [Full Text] [Related]

  • 6. Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.
    Méndez-Vidal C, González-Del Pozo M, Vela-Boza A, Santoyo-López J, López-Domingo FJ, Vázquez-Marouschek C, Dopazo J, Borrego S, Antiñolo G.
    Mol Vis; 2013 May 10; 19():2187-95. PubMed ID: 24227914
    [Abstract] [Full Text] [Related]

  • 7. Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population.
    Di Y, Huang L, Sundaresan P, Li S, Kim R, Ballav Saikia B, Qu C, Zhu X, Zhou Y, Jiang Z, Zhang L, Lin Y, Zhang D, Li Y, Zhang H, Yin Y, Lu F, Zhu X, Yang Z.
    Sci Rep; 2016 Jan 20; 6():19432. PubMed ID: 26787102
    [Abstract] [Full Text] [Related]

  • 8. Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutations.
    Sun Y, Li JK, He W, Wang ZS, Bai JY, Xu L, Xing B, Zhang JG, Wang L, Li W, Chen F.
    Mol Genet Genomic Med; 2020 Mar 20; 8(3):e1117. PubMed ID: 31944634
    [Abstract] [Full Text] [Related]

  • 9. Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.
    Khan SY, Ali S, Naeem MA, Khan SN, Husnain T, Butt NH, Qazi ZA, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA.
    Mol Vis; 2015 Mar 20; 21():871-82. PubMed ID: 26321862
    [Abstract] [Full Text] [Related]

  • 10. Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next‑generation sequencing.
    Zhu X, Li X, Tian W, Yang Y, Sun K, Li S, Zhu X.
    Mol Med Rep; 2020 Jul 20; 22(1):193-200. PubMed ID: 32319668
    [Abstract] [Full Text] [Related]

  • 11. Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa.
    Yang M, Li S, Liu W, Yang Y, Zhang L, Zhang S, Jiang Z, Yang Z, Zhu X.
    Genet Test Mol Biomarkers; 2018 Mar 20; 22(3):165-169. PubMed ID: 29437494
    [Abstract] [Full Text] [Related]

  • 12. Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.
    Nishiguchi KM, Avila-Fernandez A, van Huet RA, Corton M, Pérez-Carro R, Martín-Garrido E, López-Molina MI, Blanco-Kelly F, Hoefsloot LH, van Zelst-Stams WA, García-Ruiz PJ, Del Val J, Di Gioia SA, Klevering BJ, van de Warrenburg BP, Vazquez C, Cremers FP, García-Sandoval B, Hoyng CB, Collin RW, Rivolta C, Ayuso C.
    Ophthalmology; 2014 Aug 20; 121(8):1620-7. PubMed ID: 24697911
    [Abstract] [Full Text] [Related]

  • 13. Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.
    Méndez-Vidal C, Bravo-Gil N, González-Del Pozo M, Vela-Boza A, Dopazo J, Borrego S, Antiñolo G.
    BMC Genet; 2014 Dec 14; 15():143. PubMed ID: 25494902
    [Abstract] [Full Text] [Related]

  • 14. Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.
    Khateb S, Zelinger L, Ben-Yosef T, Merin S, Crystal-Shalit O, Gross M, Banin E, Sharon D.
    PLoS One; 2012 Dec 14; 7(12):e51566. PubMed ID: 23251578
    [Abstract] [Full Text] [Related]

  • 15. Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.
    Xu Y, Guan L, Shen T, Zhang J, Xiao X, Jiang H, Li S, Yang J, Jia X, Yin Y, Guo X, Wang J, Zhang Q.
    Hum Genet; 2014 Oct 14; 133(10):1255-71. PubMed ID: 24938718
    [Abstract] [Full Text] [Related]

  • 16. Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing.
    Xu Y, Guan L, Xiao X, Zhang J, Li S, Jiang H, Jia X, Yang J, Guo X, Yin Y, Wang J, Zhang Q.
    Mol Vis; 2015 Oct 14; 21():477-86. PubMed ID: 25999675
    [Abstract] [Full Text] [Related]

  • 17. 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 14; 18(11):776-85. PubMed ID: 26497376
    [Abstract] [Full Text] [Related]

  • 18. Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa.
    Fiorentino A, Yu J, Arno G, Pontikos N, Halford S, Broadgate S, Michaelides M, Carss KJ, Raymond FL, Cheetham ME, Webster AR, Downes SM, Hardcastle AJ, NIHR-BioResource Rare Diseases Consortium, U.K. Inherited Retinal Dystrophy Consortium.
    Mol Vis; 2018 Nov 14; 24():603-612. PubMed ID: 30210231
    [Abstract] [Full Text] [Related]

  • 19. 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 14; 95(12):1155-1161. PubMed ID: 30451805
    [Abstract] [Full Text] [Related]

  • 20. WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.
    Coussa RG, Otto EA, Gee HY, Arthurs P, Ren H, Lopez I, Keser V, Fu Q, Faingold R, Khan A, Schwartzentruber J, Majewski J, Hildebrandt F, Koenekoop RK.
    Clin Genet; 2013 Aug 14; 84(2):150-9. PubMed ID: 23683095
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 37.