Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications-Reference-Cited by-同舟云学术

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Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications

Published:2001-04-16 Issue:5 Volume:17 Page:412-422
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Alonso Javier,García-Miguel Purificación,Abelairas José,Mendiola Marta,Sarret Enric,Vendrell M. Teresa,Navajas Aurora,Pestaña Angel

Funder

Fondo de Investigación Sanitaria

Comunidad de Madrid

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference42 articles.

1. A novel complex mutation in exon 8 of RB1 in a case of isolated bilateral retinoblastoma;Alonso;Hum Mutat,2000

2. Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma;Blanquet;Hum Mol Genet,1995

3. Expression of recessive alleles by chromosomal mechanism in retinoblastoma;Cavenee;Nature,1983

4. Single-step method of RNA isolation by acid guanidinium thyocyanate-phenol-chloroform extraction;Chomczynski;Anal Biochem,1987

5. A novel missense mutation in patients from a retinoblastoma pedigree showing only mild expression of the tumor phenotype;Cowell;Oncogene,1998

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1. Mutational analysis of the RB1 gene in patients with unilateral retinoblastoma;Frontiers in Medicine;2024-08-21

2. Novel point mutation and intronic mutations of <em>RB1</em> gene in retinoblastoma patients in Indonesia;Medical Journal of Indonesia;2023-03-29

3. Splicing-Disrupting Mutations in Inherited Predisposition to Solid Pediatric Cancer;Cancers;2022-12-02

4. Socioeconomic paradigm and its impact on retinoblastoma – A study in Kolkata, India;Annals of Medical Science and Research;2022

5. Identification of novel RB1 genetic variants in Retinoblastoma patients and their impact on clinical outcome;Ophthalmic Genetics;2021-10-13

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