RB1 transcript analysis detects novel splicing aberration in retinoblastoma

[1]  J. Joo,et al.  Exon splicing analysis of intronic variants in multigene cancer panel testing for hereditary breast/ovarian cancer , 2020, Cancer science.

[2]  B. Gallie,et al.  A novel deep intronic low penetrance RB1 variant in a retinoblastoma family , 2018, Ophthalmic genetics.

[3]  P. Lai,et al.  Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling , 2017, PloS one.

[4]  M. Carmo-Fonseca,et al.  Deep intronic mutations and human disease , 2017, Human Genetics.

[5]  C. Shields,et al.  Phosphorylation of pRb: mechanism for RB pathway inactivation in MYCN‐amplified retinoblastoma , 2017, Cancer medicine.

[6]  H. Dimaras.  Retinoblastoma genetics in India: From research to implementation , 2015, Indian journal of ophthalmology.

[7]  R. Wilson,et al.  RB1 gene inactivation by chromothripsis in human retinoblastoma , 2014, Oncotarget.

[8]  S. Honavar,et al.  Splicing aberrations caused by constitutional RB1 gene mutations in retinoblastoma , 2011, Journal of Biosciences.

[9]  B. Gallie,et al.  Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression , 2008, Human mutation.

[10]  L. Desjardins,et al.  A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation , 2007, European Journal of Human Genetics.

[11]  A. Knudson.  Mutation and cancer: statistical study of retinoblastoma. , 1971, Proceedings of the National Academy of Sciences of the United States of America.