427 related articles for article (PubMed ID: 17299438)
1. 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]
2. 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
[TBL] [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
[TBL] [Abstract][Full Text] [Related]
4. [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]
5. 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; 28(12):1245. PubMed ID: 18000883
[TBL] [Abstract][Full Text] [Related]
6. 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
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. [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]
12. 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; 40(3):271-5. PubMed ID: 15139006
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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; 20(5):408. PubMed ID: 12402348
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Screening of RB1 alterations in Brazilian patients with retinoblastoma and relatives with retinoma: phenotypic and genotypic associations.
Barbosa RH; Aguiar FC; Silva MF; Costa RA; Vargas FR; Lucena E; Carvalho de Souza M; de Almeida LM; Bittar C; Ashton Prolla P; Bonvicino CR; Seuánez HN
Invest Ophthalmol Vis Sci; 2013 May; 54(5):3184-94. PubMed ID: 23532519
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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; 167(1):43-6. PubMed ID: 16682285
[TBL] [Abstract][Full Text] [Related]
19. Mutations in the retinoblastoma gene and their expression in somatic and tumor cells of patients with hereditary retinoblastoma.
Kato MV; Ishizaki K; Toguchida J; Kaneko A; Takayama J; Tanooka H; Kato T; Shimizu T; Sasaki MS
Hum Mutat; 1994; 3(1):44-51. PubMed ID: 8118465
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]