477 related articles for article (PubMed ID: 17096365)
1. 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]
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
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. [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]
6. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. [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]
9. Constitutional genomic instability, chromosome aberrations in tumor cells and retinoblastoma.
Amare Kadam PS; Ghule P; Jose J; Bamne M; Kurkure P; Banavali S; Sarin R; Advani S
Cancer Genet Cytogenet; 2004 Apr; 150(1):33-43. PubMed ID: 15041221
[TBL] [Abstract][Full Text] [Related]
10. Spectrum of RB1 mutations in argentine patients: 20-years experience in the molecular diagnosis of retinoblastoma.
Ottaviani D; Parma D; Giliberto F; Ferrer M; Fandino A; Davila MT; Chantada G; Szijan I
Ophthalmic Genet; 2013 Dec; 34(4):189-98. PubMed ID: 23301675
[TBL] [Abstract][Full Text] [Related]
11. [Distinct Rb gene point mutations in families showing low penetrance of hereditary retinoblastoma].
Huang Q; Dryja TP; Yandell DW
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 1998 Jun; 15(3):139-42. PubMed ID: 9621119
[TBL] [Abstract][Full Text] [Related]
12. Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma.
Genuardi M; Klutz M; Devriendt K; Caruso D; Stirpe M; Lohmann DR
Eur J Hum Genet; 2001 Sep; 9(9):690-4. PubMed ID: 11571558
[TBL] [Abstract][Full Text] [Related]
13. RB1 gene mutations in retinoblastoma.
Lohmann DR
Hum Mutat; 1999; 14(4):283-8. PubMed ID: 10502774
[TBL] [Abstract][Full Text] [Related]
14. [Gene diagnosis and genetic counselling of Rb gene mutations in retinoblastoma patients and their family members].
Huang Q; Dryja TP; Yandell DW
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 1998 Apr; 15(2):65-8. PubMed ID: 9531640
[TBL] [Abstract][Full Text] [Related]
15. Overview of RB gene mutations in patients with retinoblastoma. Implications for clinical genetic screening.
Harbour JW
Ophthalmology; 1998 Aug; 105(8):1442-7. PubMed ID: 9709755
[TBL] [Abstract][Full Text] [Related]
16. Partial inactivation of the RB product in a family with incomplete penetrance of familial retinoblastoma and benign retinal tumors.
Kratzke RA; Otterson GA; Hogg A; Coxon AB; Geradts J; Cowell JK; Kaye FJ
Oncogene; 1994 May; 9(5):1321-6. PubMed ID: 8152792
[TBL] [Abstract][Full Text] [Related]
17. Ten novel RB1 gene mutations in patients with retinoblastoma.
Abouzeid H; Munier FL; Thonney F; Schorderet DF
Mol Vis; 2007 Sep; 13():1740-5. PubMed ID: 17960112
[TBL] [Abstract][Full Text] [Related]
18. Spectrum of germline
Rojanaporn D; Boontawon T; Chareonsirisuthigul T; Thanapanpanich O; Attaseth T; Saengwimol D; Anurathapan U; Sujirakul T; Kaewkhaw R; Hongeng S
Mol Vis; 2018; 24():778-788. PubMed ID: 30636860
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
