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Journal Abstract Search


400 related items for PubMed ID: 32556071

  • 1. 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
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  • 3. Prognostic Information for Known Genetic Carriers of RB1 Pathogenic Variants (Germline and Mosaic).
    Reddy MA, Butt M, Hinds AM, Duncan C, Price EA, Sagoo MS, Onadim Z.
    Ophthalmol Retina; 2021 Apr 01; 5(4):381-387. PubMed ID: 32835838
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  • 4. 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
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  • 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 Apr 01; 24():231-238. PubMed ID: 29568217
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  • 12. Osteosarcoma without prior retinoblastoma related to RB1 low-penetrance germline pathogenic variants: A novel type of RB1-related hereditary predisposition syndrome?
    Imbert-Bouteille M, Gauthier-Villars M, Leroux D, Meunier I, Aerts I, Lumbroso-Le Rouic L, Lejeune S, Delnatte C, Abadie C, Pujol P, Houdayer C, Corsini C.
    Mol Genet Genomic Med; 2019 Dec 01; 7(12):e913. PubMed ID: 31568710
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  • 14. 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
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  • 15. 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
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  • 16. Impact of RB1 gene screening from blood collected on a single day from 411 family members of 113 Retinoblastoma survivors in India.
    Vanniarajan A, Maitra P, Saraswathi KK, Shah PK.
    Eye (Lond); 2024 Jun 01; 38(8):1575-1580. PubMed ID: 38341497
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  • 19. 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 01; 43(1):64-72. PubMed ID: 34645364
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  • 20. 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
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