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Journal Abstract Search

252 related items for PubMed ID: 31960602

  • 1. 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; 8(3):e1131. PubMed ID: 31960602
    [Abstract] [Full Text] [Related]

  • 2. Whole-exome sequencing identified genes known to be responsible for retinitis pigmentosa in 28 Chinese families.
    Shen C, You B, Chen YN, Li Y, Li W, Wei WB.
    Mol Vis; 2022 Mar; 28():96-113. PubMed ID: 35814500
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients.
    Koyanagi Y, Akiyama M, Nishiguchi KM, Momozawa Y, Kamatani Y, Takata S, Inai C, Iwasaki Y, Kumano M, Murakami Y, Omodaka K, Abe T, Komori S, Gao D, Hirakata T, Kurata K, Hosono K, Ueno S, Hotta Y, Murakami A, Terasaki H, Wada Y, Nakazawa T, Ishibashi T, Ikeda Y, Kubo M, Sonoda KH.
    J Med Genet; 2019 Oct; 56(10):662-670. PubMed ID: 31213501
    [Abstract] [Full Text] [Related]

  • 5. 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; 25():35-46. PubMed ID: 30804660
    [Abstract] [Full Text] [Related]

  • 6. 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; 133(10):1255-71. PubMed ID: 24938718
    [Abstract] [Full Text] [Related]

  • 7. Identification of 13 novel USH2A mutations in Chinese retinitis pigmentosa and Usher syndrome patients by targeted next-generation sequencing.
    Qu LH, Jin X, Long YL, Ren JY, Weng CH, Xu HW, Liu Y, Meng XH, Li SY, Yin ZQ.
    Biosci Rep; 2020 Jan 31; 40(1):. PubMed ID: 31904091
    [Abstract] [Full Text] [Related]

  • 8. Genetic profile of syndromic retinitis pigmentosa in Portugal.
    Cortinhal T, Santos C, Vaz-Pereira S, Marta A, Duarte L, Miranda V, Costa J, Sousa AB, Peter VG, Kaminska K, Rivolta C, Carvalho AL, Saraiva J, Soares CA, Silva R, Murta J, Santos LC, Marques JP.
    Graefes Arch Clin Exp Ophthalmol; 2024 Jun 31; 262(6):1883-1897. PubMed ID: 38189974
    [Abstract] [Full Text] [Related]

  • 9. Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.
    Xu W, Dai H, Lu T, Zhang X, Dong B, Li Y.
    Mol Vis; 2011 Jun 31; 17():1537-52. PubMed ID: 21686329
    [Abstract] [Full Text] [Related]

  • 10.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Fahim AT, Daiger SP, Weleber RG.
    ; 1993 Jun 31. PubMed ID: 20301590
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.
    Birtel J, Gliem M, Mangold E, Müller PL, Holz FG, Neuhaus C, Lenzner S, Zahnleiter D, Betz C, Eisenberger T, Bolz HJ, Charbel Issa P.
    PLoS One; 2018 Feb 01; 13(12):e0207958. PubMed ID: 30543658
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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 04; 22(1):193-200. PubMed ID: 32319668
    [Abstract] [Full Text] [Related]

  • 15. 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 04; 105(5):694-703. PubMed ID: 32675063
    [Abstract] [Full Text] [Related]

  • 16. Variants in RCBTB1 are Associated with Autosomal Recessive Retinitis Pigmentosa but Not Autosomal Dominant FEVR.
    Yang J, Xiao X, Sun W, Li S, Jia X, Zhang Q.
    Curr Eye Res; 2021 Jun 04; 46(6):839-844. PubMed ID: 33104391
    [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 Jun 04; 19():2187-95. PubMed ID: 24227914
    [Abstract] [Full Text] [Related]

  • 18. Mutation Analysis of Pre-mRNA Splicing Genes PRPF31, PRPF8, and SNRNP200 in Chinese Families with Autosomal Dominant Retinitis Pigmentosa.
    Wu Z, Zhong M, Li M, Huang H, Liao J, Lu A, Guo K, Ma N, Lin J, Duan J, Liu L, Xu F, Zhong Z, Chen J.
    Curr Mol Med; 2018 Jun 04; 18(5):287-294. PubMed ID: 30360737
    [Abstract] [Full Text] [Related]

  • 19. Variant Profiling of a Large Cohort of 138 Chinese Families With Autosomal Dominant Retinitis Pigmentosa.
    Xiao T, Xie Y, Zhang X, Xu K, Zhang X, Jin ZB, Li Y.
    Front Cell Dev Biol; 2020 Jun 04; 8():629994. PubMed ID: 33598457
    [Abstract] [Full Text] [Related]

  • 20. 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 04; 8(3):e1117. PubMed ID: 31944634
    [Abstract] [Full Text] [Related]

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