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Journal Abstract Search

480 related items for PubMed ID: 24810223

  • 1. Genetic testing in Tunisian families with heritable retinoblastoma using a low cost approach permits accurate risk prediction in relatives and reveals incomplete penetrance in adults.
    Ayari Jeridi H, Bouguila H, Ansperger-Rescher B, Baroudi O, Mdimegh I, Omran I, Charradi K, Bouzayene H, Benammar-Elgaaïed A, Lohmann DR.
    Exp Eye Res; 2014 Jul; 124():48-55. PubMed ID: 24810223
    [Abstract] [Full Text] [Related]

  • 2. Spectrum of RB1 mutations in argentine patients: 20-years experience in the molecular diagnosis of retinoblastoma.
    Ottaviani D, Parma D, Giliberto F, Ferrer M, Fandino A, Davila MT, Chantada G, Szijan I.
    Ophthalmic Genet; 2013 Dec; 34(4):189-98. PubMed ID: 23301675
    [Abstract] [Full Text] [Related]

  • 3. Spectrum of RB1 mutations identified in 403 retinoblastoma patients.
    Price EA, Price K, Kolkiewicz K, Hack S, Reddy MA, Hungerford JL, Kingston JE, Onadim Z.
    J Med Genet; 2014 Mar; 51(3):208-14. PubMed ID: 24225018
    [Abstract] [Full Text] [Related]

  • 4. Rapid identification of germline mutations in retinoblastoma by protein truncation testing.
    Tsai T, Fulton L, Smith BJ, Mueller RL, Gonzalez GA, Uusitalo MS, O'Brien JM.
    Arch Ophthalmol; 2004 Feb; 122(2):239-48. PubMed ID: 14769601
    [Abstract] [Full Text] [Related]

  • 5. A novel constitutional mutation affecting splicing of retinoblastoma tumor suppressor gene intron 23 causes partial loss of pRB activity.
    Sánchez-Sánchez F, Kruetzfeldt M, Nájera C, Mittnacht S.
    Hum Mutat; 2005 Feb; 25(2):223. PubMed ID: 15643604
    [Abstract] [Full Text] [Related]

  • 6. Outcomes of integrating genetics in management of patients with retinoblastoma.
    Dhar SU, Chintagumpala M, Noll C, Chévez-Barrios P, Paysse EA, Plon SE.
    Arch Ophthalmol; 2011 Nov; 129(11):1428-34. PubMed ID: 22084214
    [Abstract] [Full Text] [Related]

  • 7. [Low-penetrance retinoblastoma due to exons 24 and 25 deletions in the Rb1 gene].
    Du C, Jiang Y, Gallie BL.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2002 Oct; 19(5):370-4. PubMed ID: 12362308
    [Abstract] [Full Text] [Related]

  • 8. Unilateral retinoblastoma, lack of familial history and older age does not exclude germline RB1 gene mutation.
    Brichard B, Heusterspreute M, De Potter P, Chantrain C, Vermylen C, Sibille C, Gala JL.
    Eur J Cancer; 2006 Jan; 42(1):65-72. PubMed ID: 16343894
    [Abstract] [Full Text] [Related]

  • 9. Identification of three new mutations in the RB1 gene in patients with sporadic retinoblastoma in Colombia.
    Serrano ML, Yunis JJ.
    Biomedica; 2013 Jan; 33(1):53-61. PubMed ID: 23715307
    [Abstract] [Full Text] [Related]

  • 10. Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma.
    Sánchez-Sánchez F, Ramírez-Castillejo C, Weekes DB, Beneyto M, Prieto F, Nájera C, Mittnacht S.
    Hum Mutat; 2007 Feb; 28(2):159-67. PubMed ID: 16988938
    [Abstract] [Full Text] [Related]

  • 11. Screening for RB1 mutations in tumor tissue using denaturing high performance liquid chromatography, multiplex ligation-dependent probe amplification, and loss of heterozygosity analysis.
    Sellner LN, Edkins E, Smith N.
    Pediatr Dev Pathol; 2006 Feb; 9(1):31-7. PubMed ID: 16808635
    [Abstract] [Full Text] [Related]

  • 12. Two independent RB1-inactivating mutations in peripheral blood DNA of a hereditary retinoblastoma patient.
    Alonso J, Menéndez I, López A, Frayle H, Ruisánchez N, Pestaña A.
    Genes Chromosomes Cancer; 2004 Jul; 40(3):271-5. PubMed ID: 15139006
    [Abstract] [Full Text] [Related]

  • 13. A stepwise strategy for rapid and cost-effective RB1 screening in Indian retinoblastoma patients.
    Thirumalairaj K, Abraham A, Devarajan B, Gaikwad N, Kim U, Muthukkaruppan V, Vanniarajan A.
    J Hum Genet; 2015 Sep; 60(9):547-52. PubMed ID: 26084579
    [Abstract] [Full Text] [Related]

  • 14. Screening of RB1 alterations in Brazilian patients with retinoblastoma and relatives with retinoma: phenotypic and genotypic associations.
    Barbosa RH, Aguiar FC, Silva MF, Costa RA, Vargas FR, Lucena E, Carvalho de Souza M, de Almeida LM, Bittar C, Ashton Prolla P, Bonvicino CR, Seuánez HN.
    Invest Ophthalmol Vis Sci; 2013 May 07; 54(5):3184-94. PubMed ID: 23532519
    [Abstract] [Full Text] [Related]

  • 15. [From gene to disease; retinoblastoma and the RB1 gene].
    Scheffer H, Imhof SM, Moll AC.
    Ned Tijdschr Geneeskd; 2001 Jun 30; 145(26):1245-7. PubMed ID: 11455690
    [Abstract] [Full Text] [Related]

  • 16. Identification of a mutation in exon 27 of the RB1 gene associated with incomplete penetrance retinoblastoma.
    Mitter D, Rushlow D, Nowak I, Ansperger-Rescher B, Gallie BL, Lohmann DR.
    Fam Cancer; 2009 Jun 30; 8(1):55-8. PubMed ID: 18509746
    [Abstract] [Full Text] [Related]

  • 17. RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients.
    Dommering CJ, Mol BM, Moll AC, Burton M, Cloos J, Dorsman JC, Meijers-Heijboer H, van der Hout AH.
    J Med Genet; 2014 Jun 30; 51(6):366-74. PubMed ID: 24688104
    [Abstract] [Full Text] [Related]

  • 18. 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 Jun 30; 24():778-788. PubMed ID: 30636860
    [Abstract] [Full Text] [Related]

  • 19. Role of genetic testing in retinoblastoma management at a tertiary referral centre.
    Pradhan MA, Ng Y, Strickland A, George PM, Raizis A, Warrington J, Vincent AL.
    Clin Exp Ophthalmol; 2010 Apr 30; 38(3):231-6. PubMed ID: 20447117
    [Abstract] [Full Text] [Related]

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