These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. A Rapid and Sensitive Next-Generation Sequencing Method to Detect RB1 Mutations Improves Care for Retinoblastoma Patients and Their Families. Li WL; Buckley J; Sanchez-Lara PA; Maglinte DT; Viduetsky L; Tatarinova TV; Aparicio JG; Kim JW; Au M; Ostrow D; Lee TC; O'Gorman M; Judkins A; Cobrinik D; Triche TJ J Mol Diagn; 2016 Jul; 18(4):480-93. PubMed ID: 27155049 [TBL] [Abstract][Full Text] [Related]
4. Mutational screening of germline Nguyen HH; Nguyen HTT; Vu NP; Le QT; Pham CM; Huyen TT; Manh H; Pham HLB; Nguyen TD; Le HTT; Van Nong H Mol Vis; 2018; 24():231-238. PubMed ID: 29568217 [TBL] [Abstract][Full Text] [Related]
5. 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]
7. Clinical characteristics and germline mutation spectrum of RB1 in Chinese patients with retinoblastoma: A dual-center study of 145 patients. Chai P; Luo Y; Yu J; Li Y; Yang J; Zhuang A; Fan J; Han M; Jia R Exp Eye Res; 2021 Apr; 205():108456. PubMed ID: 33493472 [TBL] [Abstract][Full Text] [Related]
8. Cell-free DNA profiling in retinoblastoma patients with advanced intraocular disease: An MSKCC experience. Kothari P; Marass F; Yang JL; Stewart CM; Stephens D; Patel J; Hasan M; Jing X; Meng F; Enriquez J; Huberman K; Viale A; Francis JH; Berger MF; Shukla N; Abramson DH; Dunkel IJ; Tsui DWY Cancer Med; 2020 Sep; 9(17):6093-6101. PubMed ID: 32633890 [TBL] [Abstract][Full Text] [Related]
9. Uncommon RB1 somatic mutations in a unilateral retinoblastoma patient. Ottaviani D; Alonso C; Szijan I Medicina (B Aires); 2015; 75(3):137-41. PubMed ID: 26117602 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Genetics of Retinoblastoma. Mallipatna A; Marino M; Singh AD Asia Pac J Ophthalmol (Phila); 2016; 5(4):260-4. PubMed ID: 27488068 [TBL] [Abstract][Full Text] [Related]
13. Fang X; Chen J; Wang Y; Zhao M; Zhang X; Yang L; Ni X; Zhao J; Gallie BL Ophthalmic Genet; 2021 Oct; 42(5):593-599. PubMed ID: 34190019 [No Abstract] [Full Text] [Related]
14. RB1 gene inactivation by chromothripsis in human retinoblastoma. McEvoy J; Nagahawatte P; Finkelstein D; Richards-Yutz J; Valentine M; Ma J; Mullighan C; Song G; Chen X; Wilson M; Brennan R; Pounds S; Becksfort J; Huether R; Lu C; Fulton RS; Fulton LL; Hong X; Dooling DJ; Ochoa K; Mardis ER; Wilson RK; Easton J; Zhang J; Downing JR; Ganguly A; Dyer MA Oncotarget; 2014 Jan; 5(2):438-50. PubMed ID: 24509483 [TBL] [Abstract][Full Text] [Related]
15. Spectrum of RB1 mutations identified in 403 retinoblastoma patients. Price EA; Price K; Kolkiewicz K; Hack S; Reddy MA; Hungerford JL; Kingston JE; Onadim Z J Med Genet; 2014 Mar; 51(3):208-14. PubMed ID: 24225018 [TBL] [Abstract][Full Text] [Related]
16. Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF. Houdayer C; Gauthier-Villars M; Laugé A; Pagès-Berhouet S; Dehainault C; Caux-Moncoutier V; Karczynski P; Tosi M; Doz F; Desjardins L; Couturier J; Stoppa-Lyonnet D Hum Mutat; 2004 Feb; 23(2):193-202. PubMed ID: 14722923 [TBL] [Abstract][Full Text] [Related]
17. Genetic perspective of retinoblastoma: From present to future. Jagadeesan M; Khetan V; Mallipatna A Indian J Ophthalmol; 2016 May; 64(5):332-6. PubMed ID: 27380971 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. Retinoblastoma discordance in families with twins. Abraham A; Thirumalairaj K; Gaikwad N; Muthukkaruppan V; Reddy AG; Thangaraj K; Kim U; Vanniarajan A Indian J Ophthalmol; 2019 Mar; 67(3):436-439. PubMed ID: 30777982 [TBL] [Abstract][Full Text] [Related]