Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma-Reference-Cited by-同舟云学术

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Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma

Published:2007-02 Issue:2 Volume:28 Page:159-167
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Sánchez-Sánchez Francisco,Ramírez-Castillejo Carmen,Weekes Daniel B.,Beneyto Magdalena,Prieto Félix,Nájera Carmen,Mittnacht Sibylle

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference47 articles.

1. Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications;Alonso;Hum Mutat,2001

2. Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients;Alonso;Hum Mutat,2005

3. Identification of germline mutations in the RB1 gene by denaturant gradient gel electrophoresis and polymerase chain reaction direct sequencing;Blanquet;Hum Mol Genet,1993

4. Deletion of RB exons 24 and 25 causes low-penetrance retinoblastoma;Bremner;Am J Hum Genet,1997

5. Expression of recessive alleles by chromosomal mechanisms in retinoblastoma;Cavenee;Nature,1983

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1. An overview of RB1 transcript alterations detected during retinoblastoma genetic screening;Ophthalmic Genetics;2023-11-06

2. Genetics in ophthalmology: molecular blueprints of retinoblastoma;Human Genomics;2023-09-01

3. Metachronous, non‐pineal, trilateral retinoblastoma in a patient with a seemingly reduced‐expressivity RB1 germline deletion;Clinical Case Reports;2022-03

4. Parental Origin of the RB1 Gene Mutations in Families with Low Penetrance Hereditary Retinoblastoma;Cancers;2021-10-10

5. Introduction of a Variant Classification System for Analysis of Genotype-Phenotype Relationships in Heritable Retinoblastoma;Cancers;2021-03-31

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