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308 related items for PubMed ID: 11668642

  • 1. 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]

  • 2. 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]

  • 3. 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]

  • 4. 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]

  • 5. 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
    [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 Apr; 12(6):434. PubMed ID: 10671068
    [Abstract] [Full Text] [Related]

  • 7. 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; 22(4):339. PubMed ID: 12955724
    [Abstract] [Full Text] [Related]

  • 8. Detection of heterozygous mutations in the RB1 gene in retinoblastoma patients using single-strand conformation polymorphism analysis and polymerase chain reaction sequencing.
    Hogg A, Onadim Z, Baird PN, Cowell JK.
    Oncogene; 1992 Jul; 7(7):1445-51. PubMed ID: 1352398
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Identification of four novel RB1 germline mutations in Korean retinoblastoma patients.
    Yu YS, Kim IJ, Ku JL, Park JG.
    Hum Mutat; 2001 Sep 19; 18(3):252. PubMed ID: 11524739
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. [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]

  • 13. 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]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. 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 30; 30(5):842-51. PubMed ID: 19280657
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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 30; 41(5):735-40. PubMed ID: 15763650
    [Abstract] [Full Text] [Related]

  • 18. Pathogenic validation of unique germline intronic variants of RB1 in retinoblastoma patients using minigenes.
    Gámez-Pozo A, Palacios I, Kontic M, Menéndez I, Camino I, García-Miguel P, Abelairas J, Pestaña A, Alonso J.
    Hum Mutat; 2007 Dec 30; 28(12):1245. PubMed ID: 18000883
    [Abstract] [Full Text] [Related]

  • 19. 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
    [Abstract] [Full Text] [Related]

  • 20. 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
    [Abstract] [Full Text] [Related]

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