BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

207 related articles for article (PubMed ID: 30280194)

  • 1. 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; 18(6):5016-5022. PubMed ID: 30280194
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 40(1):. PubMed ID: 31904091
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 19():2187-95. PubMed ID: 24227914
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population.
    Huang L; Mao Y; Yang J; Li Y; Li Y; Yang Z
    Eye (Lond); 2018 Oct; 32(10):1608-1614. PubMed ID: 29899460
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Whole exome sequencing reveals novel
    Xiao X; Cao Y; Chen S; Chen M; Mai X; Zheng Y; Zhuang X; Ng TK; Chen H
    Mol Vis; 2019; 25():35-46. PubMed ID: 30804660
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Correlation between Genotype and Phenotype in 69 Chinese Patients with USH2A Mutations: A comparative study of the patients with Usher Syndrome and Nonsyndromic Retinitis Pigmentosa.
    Meng X; Liu X; Li Y; Guo T; Yang L
    Acta Ophthalmol; 2021 Jun; 99(4):e447-e460. PubMed ID: 33124170
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 28():96-113. PubMed ID: 35814500
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 9(1):5628. PubMed ID: 30948794
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 23():470-481. PubMed ID: 28761320
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 12.
    Zhu T; Chen DF; Wang L; Wu S; Wei X; Li H; Jin ZB; Sui R
    Br J Ophthalmol; 2021 May; 105(5):694-703. PubMed ID: 32675063
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants.
    González-Del Pozo M; Fernández-Suárez E; Martín-Sánchez M; Bravo-Gil N; Méndez-Vidal C; Rodríguez-de la Rúa E; Borrego S; Antiñolo G
    J Transl Med; 2020 Feb; 18(1):73. PubMed ID: 32050993
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 6():19432. PubMed ID: 26787102
    [TBL] [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; 133(10):1255-71. PubMed ID: 24938718
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family.
    Liu X; Tang Z; Li C; Yang K; Gan G; Zhang Z; Liu J; Jiang F; Wang Q; Liu M
    Mol Vis; 2010 Mar; 16():454-61. PubMed ID: 20309401
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes.
    Bouzidi A; Charif M; Bouzidi A; Amalou G; Kandil M; Barakat A; Lenaers G
    Mol Vis; 2021; 27():17-25. PubMed ID: 33633436
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients.
    Zhao Y; Hosono K; Suto K; Ishigami C; Arai Y; Hikoya A; Hirami Y; Ohtsubo M; Ueno S; Terasaki H; Sato M; Nakanishi H; Endo S; Mizuta K; Mineta H; Kondo M; Takahashi M; Minoshima S; Hotta Y
    J Hum Genet; 2014 Sep; 59(9):521-8. PubMed ID: 25078356
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel compound heterozygous variants in the
    Huang Y; Yuan L; He G; Cao Y; Deng X; Deng H
    Front Cell Dev Biol; 2023; 11():1129862. PubMed ID: 36875754
    [No Abstract]   [Full Text] [Related]  

  • 20. Pathogenic variants in
    Olivier G; Corton M; Intartaglia D; Verbakel SK; Sergouniotis PI; Le Meur G; Dhaenens CM; Naacke H; Avila-Fernández A; Hoyng CB; Klevering J; Bocquet B; Roubertie A; Sénéchal A; Banfi S; Muller A; Hamel CL; Black GC; Conte I; Roosing S; Zanlonghi X; Ayuso C; Meunier I; Manes G
    J Med Genet; 2021 Aug; 58(8):570-578. PubMed ID: 32817297
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.