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.
11. Association Between Genotype and Phenotype in Consecutive Unrelated Individuals With Retinoblastoma. Salviat F; Gauthier-Villars M; Carton M; Cassoux N; Lumbroso-Le Rouic L; Dehainault C; Levy C; Golmard L; Aerts I; Doz F; Bonnet-Serrano F; Hayek S; Savignoni A; Stoppa-Lyonnet D; Houdayer C JAMA Ophthalmol; 2020 Aug; 138(8):843-850. PubMed ID: 32556071 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. Unilateral retinocytoma associated with a variant in the RB1 gene. Wu S; Zou X; Sun Z; Zhu T; Wei X; Sui R Mol Genet Genomic Med; 2020 Apr; 8(4):e1156. PubMed ID: 31997559 [TBL] [Abstract][Full Text] [Related]
14. Spectrum of mutations in the Kiet NC; Khuong LT; Minh DD; ; Quan NHM; Xinh PT; Trang NNC; Luan NT; Khai NM; Vu HA Mol Vis; 2019; 25():215-221. PubMed ID: 30996590 [TBL] [Abstract][Full Text] [Related]
15. "Monoallelic germline methylation and sequence variant in the promoter of the RB1 gene: a possible constitutive epimutation in hereditary retinoblastoma". Quiñonez-Silva G; Dávalos-Salas M; Recillas-Targa F; Ostrosky-Wegman P; Aranda DA; Benítez-Bribiesca L Clin Epigenetics; 2016; 8():1. PubMed ID: 26753011 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Spectrum and tissue distribution of RB1 pathogenic alleles in mosaic retinoblastoma patients. Zhang Y; Wei WB; Zhao J; Xu X; Wang F Ophthalmic Genet; 2022 Dec; 43(6):795-805. PubMed ID: 35938543 [TBL] [Abstract][Full Text] [Related]
19. A novel de-novo RB1 mutation identified in a patient with bilateral retinoblastoma. Fukushima H; Suzuki R; Hiraoka T; Suzuki S; Noguchi E; Takada H Jpn J Clin Oncol; 2023 Aug; 53(9):863-865. PubMed ID: 37345682 [TBL] [Abstract][Full Text] [Related]