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309 related items for PubMed ID: 15605413

  • 1. 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; 25(1):99. PubMed ID: 15605413
    [Abstract] [Full Text] [Related]

  • 2. 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; 17(5):412-22. PubMed ID: 11317357
    [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; 42(1):65-72. PubMed ID: 16343894
    [Abstract] [Full Text] [Related]

  • 4. 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
    [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; 18(5):459. PubMed ID: 11668642
    [Abstract] [Full Text] [Related]

  • 6. Twelve novel RB1 gene mutations in patients with hereditary retinoblastoma. Mutations in brief no. 206. Online.
    Yilmaz S, Horsthemke B, Lohmann DR.
    Hum Mutat; 1998 Nov; 12(6):434. PubMed ID: 10671068
    [Abstract] [Full Text] [Related]

  • 7. Ten novel RB1 gene mutations in patients with retinoblastoma.
    Abouzeid H, Munier FL, Thonney F, Schorderet DF.
    Mol Vis; 2007 Sep 19; 13():1740-5. PubMed ID: 17960112
    [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 19; 26(5):437-45. PubMed ID: 16127685
    [Abstract] [Full Text] [Related]

  • 9. RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database.
    Valverde JR, Alonso J, Palacios I, Pestaña A.
    BMC Genet; 2005 Nov 04; 6():53. PubMed ID: 16269091
    [Abstract] [Full Text] [Related]

  • 10. [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 04; 19(5):370-4. PubMed ID: 12362308
    [Abstract] [Full Text] [Related]

  • 11. 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 04; 28(2):159-67. PubMed ID: 16988938
    [Abstract] [Full Text] [Related]

  • 12. 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 04; 167(1):43-6. PubMed ID: 16682285
    [Abstract] [Full Text] [Related]

  • 13. Identification of three new mutations in the RB1 gene in patients with sporadic retinoblastoma in Colombia.
    Serrano ML, Yunis JJ.
    Biomedica; 2013 May 04; 33(1):53-61. PubMed ID: 23715307
    [Abstract] [Full Text] [Related]

  • 14. 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 04; 15(4):473-7. PubMed ID: 17299438
    [Abstract] [Full Text] [Related]

  • 15. 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 04; 25(2):223. PubMed ID: 15643604
    [Abstract] [Full Text] [Related]

  • 16. 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 04; 29(4):475-84. PubMed ID: 18181215
    [Abstract] [Full Text] [Related]

  • 17. 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 04; 20(5):408. PubMed ID: 12402348
    [Abstract] [Full Text] [Related]

  • 18. Mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutations.
    Kiran VS, Kannabiran C, Chakravarthi K, Vemuganti GK, Honavar SG.
    Hum Mutat; 2003 Oct 04; 22(4):339. PubMed ID: 12955724
    [Abstract] [Full Text] [Related]

  • 19. RB1 gene mutations in retinoblastoma.
    Lohmann DR.
    Hum Mutat; 1999 Oct 04; 14(4):283-8. PubMed ID: 10502774
    [Abstract] [Full Text] [Related]

  • 20. Detection of mosaic RB1 mutations in families with retinoblastoma.
    Rushlow D, Piovesan B, Zhang K, Prigoda-Lee NL, Marchong MN, Clark RD, Gallie BL.
    Hum Mutat; 2009 May 04; 30(5):842-51. PubMed ID: 19280657
    [Abstract] [Full Text] [Related]

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