BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

175 related articles for article (PubMed ID: 12016586)

  • 1. A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 gene.
    Klutz M; Brockmann D; Lohmann DR
    Am J Hum Genet; 2002 Jul; 71(1):174-9. PubMed ID: 12016586
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Identification of a mutation in exon 27 of the RB1 gene associated with incomplete penetrance retinoblastoma.
    Mitter D; Rushlow D; Nowak I; Ansperger-Rescher B; Gallie BL; Lohmann DR
    Fam Cancer; 2009; 8(1):55-8. PubMed ID: 18509746
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1.
    Eloy P; Dehainault C; Sefta M; Aerts I; Doz F; Cassoux N; Lumbroso le Rouic L; Stoppa-Lyonnet D; Radvanyi F; Millot GA; Gauthier-Villars M; Houdayer C
    PLoS Genet; 2016 Feb; 12(2):e1005888. PubMed ID: 26925970
    [TBL] [Abstract][Full Text] [Related]  

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

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 25(2):223. PubMed ID: 15643604
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 29(4):475-84. PubMed ID: 18181215
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A possible hot spot in exon 21 of the retinoblastoma gene predisposing to a low penetrant retinoblastoma phenotype?
    Ahmad NN; Melo MB; Singh AD; Donoso LA; Shields JA
    Ophthalmic Genet; 1999 Dec; 20(4):225-31. PubMed ID: 10617920
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genetic testing in Tunisian families with heritable retinoblastoma using a low cost approach permits accurate risk prediction in relatives and reveals incomplete penetrance in adults.
    Ayari Jeridi H; Bouguila H; Ansperger-Rescher B; Baroudi O; Mdimegh I; Omran I; Charradi K; Bouzayene H; Benammar-Elgaaïed A; Lohmann DR
    Exp Eye Res; 2014 Jul; 124():48-55. PubMed ID: 24810223
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma.
    Imperatore V; Pinto AM; Gelli E; Trevisson E; Morbidoni V; Frullanti E; Hadjistilianou T; De Francesco S; Toti P; Gusson E; Roversi G; Accogli A; Capra V; Mencarelli MA; Renieri A; Ariani F
    Eur J Hum Genet; 2018 Jul; 26(7):1026-1037. PubMed ID: 29662154
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Splicing aberrations caused by constitutional RB1 gene mutations in retinoblastoma.
    Parsam VL; Ali MJ; Honavar SG; Vemuganti GK; Kannabiran C
    J Biosci; 2011 Jun; 36(2):281-7. PubMed ID: 21654082
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Two novel germline mutations of the retinoblastoma gene (RB1) that show incomplete penetrance, one splice site and one missense.
    Scheffer H; Van Der Vlies P; Burton M; Verlind E; Moll AC; Imhof SM; Buys CH
    J Med Genet; 2000 Jul; 37(7):E6. PubMed ID: 10882758
    [No Abstract]   [Full Text] [Related]  

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

  • 16. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [From gene to disease; retinoblastoma and the RB1 gene].
    Scheffer H; Imhof SM; Moll AC
    Ned Tijdschr Geneeskd; 2001 Jun; 145(26):1245-7. PubMed ID: 11455690
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas.
    Cygan KJ; Soemedi R; Rhine CL; Profeta A; Murphy EL; Murray MF; Fairbrother WG
    Hum Genet; 2017 Sep; 136(9):1303-1312. PubMed ID: 28780672
    [TBL] [Abstract][Full Text] [Related]  

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

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

    [Next]    [New Search]
    of 9.