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539 related items for PubMed ID: 32100970

  • 1. Genetic and clinical findings of panel-based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa.
    Sun Y, Li W, Li JK, Wang ZS, Bai JY, Xu L, Xing B, Yang W, Wang ZW, Wang LS, He W, Chen F.
    Mol Genet Genomic Med; 2020 Apr; 8(4):e1184. PubMed ID: 32100970
    [Abstract] [Full Text] [Related]

  • 2. 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; 8(3):e1117. PubMed ID: 31944634
    [Abstract] [Full Text] [Related]

  • 3. 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; 22(1):193-200. PubMed ID: 32319668
    [Abstract] [Full Text] [Related]

  • 4. Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.
    Pierrottet CO, Zuntini M, Digiuni M, Bazzanella I, Ferri P, Paderni R, Rossetti LM, Cecchin S, Orzalesi N, Bertelli M.
    Genet Mol Res; 2014 Oct 27; 13(4):8815-33. PubMed ID: 25366773
    [Abstract] [Full Text] [Related]

  • 5. Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa.
    Dan H, Huang X, Xing Y, Shen Y.
    Mol Genet Genomic Med; 2020 Mar 27; 8(3):e1131. PubMed ID: 31960602
    [Abstract] [Full Text] [Related]

  • 6. 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 27; 25():35-46. PubMed ID: 30804660
    [Abstract] [Full Text] [Related]

  • 7. Whole exome sequencing in Thai patients with retinitis pigmentosa reveals novel mutations in six genes.
    Jinda W, Taylor TD, Suzuki Y, Thongnoppakhun W, Limwongse C, Lertrit P, Suriyaphol P, Trinavarat A, Atchaneeyasakul LO.
    Invest Ophthalmol Vis Sci; 2014 Apr 07; 55(4):2259-68. PubMed ID: 24618324
    [Abstract] [Full Text] [Related]

  • 8. Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.
    Jones KD, Wheaton DK, Bowne SJ, Sullivan LS, Birch DG, Chen R, Daiger SP.
    Mol Vis; 2017 Apr 07; 23():470-481. PubMed ID: 28761320
    [Abstract] [Full Text] [Related]

  • 9. USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa.
    Zhu T, Chen DF, Wang L, Wu S, Wei X, Li H, Jin ZB, Sui R.
    Br J Ophthalmol; 2021 May 07; 105(5):694-703. PubMed ID: 32675063
    [Abstract] [Full Text] [Related]

  • 10. Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
    Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L.
    Invest Ophthalmol Vis Sci; 2021 Feb 01; 62(2):13. PubMed ID: 33576794
    [Abstract] [Full Text] [Related]

  • 11. Whole exome sequencing identifies novel USH2A mutations and confirms Usher syndrome 2 diagnosis in Chinese retinitis pigmentosa patients.
    Ng TK, Tang W, Cao Y, Chen S, Zheng Y, Xiao X, Chen H.
    Sci Rep; 2019 Apr 04; 9(1):5628. PubMed ID: 30948794
    [Abstract] [Full Text] [Related]

  • 12. 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 04; 133(10):1255-71. PubMed ID: 24938718
    [Abstract] [Full Text] [Related]

  • 13. Exome sequencing identified five novel USH2A variants in Korean patients with retinitis pigmentosa.
    Jung S, Park YC, Lee D, Kim S, Kim SM, Kim Y, Lee D, Hyun J, Koh I, Lee JY.
    Ophthalmic Genet; 2023 Apr 04; 44(2):163-170. PubMed ID: 36314366
    [Abstract] [Full Text] [Related]

  • 14. Compound pathogenic mutation in the USH2A gene in Chinese RP families detected by whole‑exome sequencing.
    Fu YC, Chen N, Qiu ZL, Liu L, Shen J.
    Mol Med Rep; 2018 Dec 04; 18(6):5016-5022. PubMed ID: 30280194
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. 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 20; 124(7):992-1003. PubMed ID: 28412069
    [Abstract] [Full Text] [Related]

  • 17. 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 Jul 20; 19():2187-95. PubMed ID: 24227914
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.
    Van Cauwenbergh C, Coppieters F, Roels D, De Jaegere S, Flipts H, De Zaeytijd J, Walraedt S, Claes C, Fransen E, Van Camp G, Depasse F, Casteels I, de Ravel T, Leroy BP, De Baere E.
    PLoS One; 2017 Oct 10; 12(1):e0170038. PubMed ID: 28076437
    [Abstract] [Full Text] [Related]

  • 20. Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.
    Kim YJ, Kim YN, Yoon YH, Seo EJ, Seo GH, Keum C, Lee BH, Lee JY.
    Genes (Basel); 2021 Apr 30; 12(5):. PubMed ID: 33946315
    [Abstract] [Full Text] [Related]

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