Associated Papers
Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality.
Rojanaporn D et al.
Translational Vision Science & Technology, 2022
36173648 (PubMed )
Supplement: tvst-11-9-30_s001.xlsx › Bilat__germline__n__938
UV-Associated Mutations Underlie the Etiology of MCV-Negative Merkel Cell Carcinomas.
Wong SQ et al.
Cancer Research, 2015
26627015 (PubMed )
Supplement: 00085472can151877-sup-152397_1_supp_3130424_n439px.xlsx › Supplementary_Table_S5
RB1 gene inactivation by chromothripsis in human retinoblastoma.
McEvoy J et al.
Oncotarget, 2014
24509483 (PubMed )
Supplement: oncotarget-05-438-s002.xlsx › UPENN_RB1_Mutation_Analysis__
Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.
Richter S et al.
American Journal of Human Genetics, 2003
Hereditary nonpolyposis coloretal cancer: identification of novel germline mutations in two kindreds not fulfulling the Amsterdam criteria. Mutations in brief no. 203. Online.
Quaresima B et al.
Human Mutation, 1998
Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (mucopolysaccharidosis Type II) patients. Mutations in brief no. 202. Online.
Karsten SL et al.
Human Mutation, 1998
Twelve novel RB1 gene mutations in patients with hereditary retinoblastoma. Mutations in brief no. 206. Online.
Yilmaz S et al.
Human Mutation, 1998
Select a paper to view details