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Journal Abstract Search

354 related items for PubMed ID: 16988938

  • 1. 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]

  • 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
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  • 3. [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
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  • 4. 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; 28(3):284-93. PubMed ID: 17096365
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  • 5. 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]

  • 6. 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]

  • 7. 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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  • 13. 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
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  • 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
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  • 16. 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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  • 17. Two mutations in exon XII of the protein S alpha gene in four thrombophilic families resulting in premature stop codons and depressed levels of mutated mRNA.
    Andersen BD, Lind B, Philips M, Hansen AB, Ingerslev J, Thorsen S.
    Thromb Haemost; 1996 Aug 30; 76(2):143-50. PubMed ID: 8865520
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  • 18. 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
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  • 19. Mutation detection and genetic counseling in retinoblastoma using heteroduplex analysis.
    Zhang Q, Minoda K.
    Jpn J Ophthalmol; 1995 Jan 30; 39(4):432-7. PubMed ID: 8926652
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