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Journal Abstract Search


332 related items for PubMed ID: 15763650

  • 1. Age at diagnosis of isolated unilateral retinoblastoma does not distinguish patients with and without a constitutional RB1 gene mutation but is influenced by a parent-of-origin effect.
    Schüler A, Weber S, Neuhäuser M, Jurklies C, Lehnert T, Heimann H, Rudolph G, Jöckel KH, Bornfeld N, Lohmann DR.
    Eur J Cancer; 2005 Mar; 41(5):735-40. PubMed ID: 15763650
    [Abstract] [Full Text] [Related]

  • 2. [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]

  • 3. 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 30; 42(1):65-72. PubMed ID: 16343894
    [Abstract] [Full Text] [Related]

  • 4. Loss of heterozygosity and mutations are the major mechanisms of RB1 gene inactivation in Chinese with sporadic retinoblastoma.
    Choy KW, Pang CP, Yu CB, Wong HL, Ng JS, Fan DS, Lo KW, Chai JT, Wang J, Fu W, Lam DS.
    Hum Mutat; 2002 Nov 30; 20(5):408. PubMed ID: 12402348
    [Abstract] [Full Text] [Related]

  • 5. Novel RB1 gene constitutional mutations found in Polish patients with familial and/or bilateral retinoblastoma.
    Jakubowska A, Zajaczek S, Haus O, Limon J, Kostyk E, Krzystolik Z, Lubinski J.
    Hum Mutat; 2001 Nov 30; 18(5):459. PubMed ID: 11668642
    [Abstract] [Full Text] [Related]

  • 6. A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation.
    Dehainault C, Michaux D, Pagès-Berhouet S, Caux-Moncoutier V, Doz F, Desjardins L, Couturier J, Parent P, Stoppa-Lyonnet D, Gauthier-Villars M, Houdayer C.
    Eur J Hum Genet; 2007 Apr 30; 15(4):473-7. PubMed ID: 17299438
    [Abstract] [Full Text] [Related]

  • 7. 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 30; 25(2):223. PubMed ID: 15643604
    [Abstract] [Full Text] [Related]

  • 8. Spectrum of gross deletions and insertions in the RB1 gene in patients with retinoblastoma and association with phenotypic expression.
    Albrecht P, Ansperger-Rescher B, Schüler A, Zeschnigk M, Gallie B, Lohmann DR.
    Hum Mutat; 2005 Nov 30; 26(5):437-45. PubMed ID: 16127685
    [Abstract] [Full Text] [Related]

  • 9. A molecular study of first and second RB1 mutational hits in retinoblastoma patients.
    de Andrade AF, da Hora Barbosa R, Vargas FR, Ferman S, Eisenberg AL, Fernandes L, Bonvicino CR.
    Cancer Genet Cytogenet; 2006 May 30; 167(1):43-6. PubMed ID: 16682285
    [Abstract] [Full Text] [Related]

  • 10. [Retinoblatoma: a review].
    Doz F.
    Arch Pediatr; 2006 Oct 30; 13(10):1329-37. PubMed ID: 16930963
    [Abstract] [Full Text] [Related]

  • 11. Uncommon RB1 somatic mutations in a unilateral retinoblastoma patient.
    Ottaviani D, Alonso C, Szijan I.
    Medicina (B Aires); 2015 Oct 30; 75(3):137-41. PubMed ID: 26117602
    [Abstract] [Full Text] [Related]

  • 12. Retinoblastoma: revisiting the model prototype of inherited cancer.
    Lohmann DR, Gallie BL.
    Am J Med Genet C Semin Med Genet; 2004 Aug 15; 129C(1):23-8. PubMed ID: 15264269
    [Abstract] [Full Text] [Related]

  • 13. 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 15; 51(3):208-14. PubMed ID: 24225018
    [Abstract] [Full Text] [Related]

  • 14. Improved clinical management of retinoblastoma through gene testing.
    Raizis A, Clemett R, Corbett R, McGaughran J, Evans J, George P.
    N Z Med J; 2002 May 24; 115(1154):231-4. PubMed ID: 12117173
    [Abstract] [Full Text] [Related]

  • 15. A splicing mutation in RB1 in low penetrance retinoblastoma.
    Schubert EL, Strong LC, Hansen MF.
    Hum Genet; 1997 Oct 24; 100(5-6):557-63. PubMed ID: 9341870
    [Abstract] [Full Text] [Related]

  • 16. The RB1 gene mutation in a child with ectopic intracranial retinoblastoma.
    Onadim Z, Woolford AJ, Kingston JE, Hungerford JL.
    Br J Cancer; 1997 Oct 24; 76(11):1405-9. PubMed ID: 9400934
    [Abstract] [Full Text] [Related]

  • 17. [Molecular diagnosis of retinoblastoma. First experience in Russia].
    Babenko OV, Brovkina AF, Zaletaev DV, Kozlova VM, Saakian SV, Nemtsova MV.
    Vestn Oftalmol; 2002 Oct 24; 118(1):28-31. PubMed ID: 11898356
    [Abstract] [Full Text] [Related]

  • 18. Genotype-phenotype correlations in hereditary familial retinoblastoma.
    Taylor M, Dehainault C, Desjardins L, Doz F, Levy C, Sastre X, Couturier J, Stoppa-Lyonnet D, Houdayer C, Gauthier-Villars M.
    Hum Mutat; 2007 Mar 24; 28(3):284-93. PubMed ID: 17096365
    [Abstract] [Full Text] [Related]

  • 19. 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 24; 40(3):271-5. PubMed ID: 15139006
    [Abstract] [Full Text] [Related]

  • 20. Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients.
    Alonso J, Frayle H, Menéndez I, López A, García-Miguel P, Abelairas J, Sarret E, Vendrell MT, Navajas A, Artigas M, Indiano JM, Carbone A, Torrenteras C, Palacios I, Pestaña A.
    Hum Mutat; 2005 Jan 24; 25(1):99. PubMed ID: 15605413
    [Abstract] [Full Text] [Related]


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