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Journal Abstract Search

422 related items for PubMed ID: 17299438

  • 1. 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; 15(4):473-7. PubMed ID: 17299438
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  • 2. Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene.
    Nichols KE, Houseknecht MD, Godmilow L, Bunin G, Shields C, Meadows A, Ganguly A.
    Hum Mutat; 2005 Jun; 25(6):566-74. PubMed ID: 15884040
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  • 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; 42(1):65-72. PubMed ID: 16343894
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  • 4. [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
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  • 6. 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
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  • 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
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  • 8. 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 30; 28(2):159-67. PubMed ID: 16988938
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  • 9. 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 30; 25(1):99. PubMed ID: 15605413
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  • 10. Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression.
    Zhang K, Nowak I, Rushlow D, Gallie BL, Lohmann DR.
    Hum Mutat; 2008 Apr 30; 29(4):475-84. PubMed ID: 18181215
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  • 11. [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 30; 19(5):370-4. PubMed ID: 12362308
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  • 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 30; 40(3):271-5. PubMed ID: 15139006
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  • 13. Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications.
    Alonso J, García-Miguel P, Abelairas J, Mendiola M, Sarret E, Vendrell MT, Navajas A, Pestaña A.
    Hum Mutat; 2001 May 30; 17(5):412-22. PubMed ID: 11317357
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  • 14. 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
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  • 15. Splicing aberrations caused by constitutional RB1 gene mutations in retinoblastoma.
    Parsam VL, Ali MJ, Honavar SG, Vemuganti GK, Kannabiran C.
    J Biosci; 2011 Jun 30; 36(2):281-7. PubMed ID: 21654082
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  • 18. 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
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