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Journal Abstract Search

449 related items for PubMed ID: 32139107

  • 1. Next-Generation Sequencing of Retinoblastoma Identifies Pathogenic Alterations beyond RB1 Inactivation That Correlate with Aggressive Histopathologic Features.
    Afshar AR, Pekmezci M, Bloomer MM, Cadenas NJ, Stevers M, Banerjee A, Roy R, Olshen AB, Van Ziffle J, Onodera C, Devine WP, Grenert JP, Bastian BC, Solomon DA, Damato BE.
    Ophthalmology; 2020 Jun; 127(6):804-813. PubMed ID: 32139107
    [Abstract] [Full Text] [Related]

  • 2. Spectrum of germline mutations in RB1 in Chinese patients with retinoblastoma: Application of targeted next-generation sequencing.
    Zou Y, Li J, Hua P, Liang T, Ji X, Zhao P.
    Mol Vis; 2021 Jun; 27():1-16. PubMed ID: 33456302
    [Abstract] [Full Text] [Related]

  • 3. RB1 germline mutation spectrum and clinical features in patients with unilateral retinoblastomas.
    Fang X, Chen J, Wang Y, Zhao M, Zhang X, Yang L, Ni X, Zhao J, Gallie BL.
    Ophthalmic Genet; 2021 Oct; 42(5):593-599. PubMed ID: 34190019
    [Abstract] [Full Text] [Related]

  • 4. Simultaneous identification of clinically relevant RB1 mutations and copy number alterations in aqueous humor of retinoblastoma eyes.
    Xu L, Shen L, Polski A, Prabakar RK, Shah R, Jubran R, Kim JW, Biegel J, Kuhn P, Cobrinik D, Hicks J, Gai X, Berry JL.
    Ophthalmic Genet; 2020 Dec; 41(6):526-532. PubMed ID: 32799607
    [Abstract] [Full Text] [Related]

  • 5. Spectrum of germline RB1 mutations and clinical manifestations in retinoblastoma patients from Thailand.
    Rojanaporn D, Boontawon T, Chareonsirisuthigul T, Thanapanpanich O, Attaseth T, Saengwimol D, Anurathapan U, Sujirakul T, Kaewkhaw R, Hongeng S.
    Mol Vis; 2018 Dec; 24():778-788. PubMed ID: 30636860
    [Abstract] [Full Text] [Related]

  • 6. Mutational screening of germline RB1 gene in Vietnamese patients with retinoblastoma reveals three novel mutations.
    Nguyen HH, Nguyen HTT, Vu NP, Le QT, Pham CM, Huyen TT, Manh H, Pham HLB, Nguyen TD, Le HTT, Van Nong H.
    Mol Vis; 2018 Dec; 24():231-238. PubMed ID: 29568217
    [Abstract] [Full Text] [Related]

  • 7. Spectrum of mutations in the RB1 gene in Vietnamese patients with retinoblastoma.
    Kiet NC, Khuong LT, Minh DD, Nguyen The Vinh, Quan NHM, Xinh PT, Trang NNC, Luan NT, Khai NM, Vu HA.
    Mol Vis; 2019 Dec; 25():215-221. PubMed ID: 30996590
    [Abstract] [Full Text] [Related]

  • 8. Molecular alterations in retinoblastoma beyond RB1.
    Mendonça V, Evangelista AC, P Matta B, M Moreira MÂ, Faria P, Lucena E, Seuánez HN.
    Exp Eye Res; 2021 Oct; 211():108753. PubMed ID: 34478740
    [Abstract] [Full Text] [Related]

  • 9. Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort.
    Singh J, Mishra A, Pandian AJ, Mallipatna AC, Khetan V, Sripriya S, Kapoor S, Agarwal S, Sankaran S, Katragadda S, Veeramachaneni V, Hariharan R, Subramanian K, Mannan AU.
    Mol Vis; 2016 Oct; 22():1036-47. PubMed ID: 27582626
    [Abstract] [Full Text] [Related]

  • 10. RB1 screening of retinoblastoma patients in Sri Lanka using targeted next generation sequencing (NGS) and gene ratio analysis copy enumeration PCR (GRACE-PCR).
    Kugalingam N, De Silva D, Abeysekera H, Nanayakkara S, Tirimanne S, Ranaweera D, Suravajhala P, Chandrasekharan V.
    BMC Med Genomics; 2023 Nov 06; 16(1):279. PubMed ID: 37932687
    [Abstract] [Full Text] [Related]

  • 11. Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality.
    Rojanaporn D, Chitphuk S, Iemwimangsa N, Chareonsirisuthigul T, Saengwimol D, Aroonroch R, Anurathathapan U, Hongeng S, Kaewkhaw R.
    Transl Vis Sci Technol; 2022 Sep 01; 11(9):30. PubMed ID: 36173648
    [Abstract] [Full Text] [Related]

  • 12. Clinical characteristics and germline mutation spectrum of RB1 in Chinese patients with retinoblastoma: A dual-center study of 145 patients.
    Chai P, Luo Y, Yu J, Li Y, Yang J, Zhuang A, Fan J, Han M, Jia R.
    Exp Eye Res; 2021 Apr 01; 205():108456. PubMed ID: 33493472
    [Abstract] [Full Text] [Related]

  • 13. MYCN amplification levels in primary retinoblastoma tumors analyzed by Multiple Ligation-dependent Probe Amplification.
    Price EA, Patel R, Scheimberg I, Kotiloglu Karaa E, Sagoo MS, Reddy MA, Onadim Z.
    Ophthalmic Genet; 2021 Oct 01; 42(5):604-611. PubMed ID: 34003079
    [Abstract] [Full Text] [Related]

  • 14. Secondary enucleated retinoblastoma with MYCN amplification.
    Moulin AP, Stathopoulos C, Marcelli F, Schoumans Pouw J, Beck-Popovic M, Munier FL.
    Ophthalmic Genet; 2021 Jun 01; 42(3):354-359. PubMed ID: 33870828
    [Abstract] [Full Text] [Related]

  • 15. Association Between Genotype and Phenotype in Consecutive Unrelated Individuals With Retinoblastoma.
    Salviat F, Gauthier-Villars M, Carton M, Cassoux N, Lumbroso-Le Rouic L, Dehainault C, Levy C, Golmard L, Aerts I, Doz F, Bonnet-Serrano F, Hayek S, Savignoni A, Stoppa-Lyonnet D, Houdayer C.
    JAMA Ophthalmol; 2020 Aug 01; 138(8):843-850. PubMed ID: 32556071
    [Abstract] [Full Text] [Related]

  • 16. Novel RB1 germline mutation in a healthy man.
    Ramos-Dávila EM, Garza-Garza LA, Villafuerte-de la Cruz R, Aguilar-Y-Mendez D, Morales-Garza HJ, Garza-Leon M, Ruiz-Lozano RE, Ancona-Lezama D.
    Ophthalmic Genet; 2022 Aug 01; 43(4):561-566. PubMed ID: 35410579
    [Abstract] [Full Text] [Related]

  • 17. Next generation sequencing of RB1gene for the molecular diagnosis of ethnic minority with retinoblastoma in Yunnan.
    Zhang Z, Xiao YS, Shen R, Jiang HC, Tan L, Li RQ, Yang XH, Gu HY, He WJ, Ma J.
    BMC Med Genet; 2020 Nov 23; 21(1):230. PubMed ID: 33225895
    [Abstract] [Full Text] [Related]

  • 18. Mutational analysis of the RB1 gene and the inheritance patterns of retinoblastoma in Jordan.
    Yousef YA, Tbakhi A, Al-Hussaini M, AlNawaiseh I, Saab A, Afifi A, Naji M, Mohammad M, Deebajah R, Jaradat I, Sultan I, Mehyar M.
    Fam Cancer; 2018 Apr 23; 17(2):261-268. PubMed ID: 28803391
    [Abstract] [Full Text] [Related]

  • 19. Impact of RB1 gene mutation type in retinoblastoma patients on clinical presentation and management outcome.
    Mehyar M, Mosallam M, Tbakhi A, Saab A, Sultan I, Deebajah R, Jaradat I, AlJabari R, Mohammad M, AlNawaiseh I, Al-Hussaini M, Yousef YA.
    Hematol Oncol Stem Cell Ther; 2020 Sep 23; 13(3):152-159. PubMed ID: 32222358
    [Abstract] [Full Text] [Related]

  • 20. Identification of novel RB1 genetic variants in Retinoblastoma patients and their impact on clinical outcome.
    Manukonda R, Pujar A, Ramappa G, Vemuganti GK, Kaliki S.
    Ophthalmic Genet; 2022 Feb 23; 43(1):64-72. PubMed ID: 34645364
    [Abstract] [Full Text] [Related]

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