Sensitive and Efficient Detection of RB1 Gene Mutations Enhances Care for Families with Retinoblastoma-Reference-Cited by-同舟云学术

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Sensitive and Efficient Detection of RB1 Gene Mutations Enhances Care for Families with Retinoblastoma

Published:2003-02 Issue:2 Volume:72 Page:253-269
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Richter Suzanne,Vandezande Kirk,Chen Ning,Zhang Katherine,Sutherland Joanne,Anderson Julie,Han Liping,Panton Rachel,Branco Patricia,Gallie Brenda

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference65 articles.

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

2. Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group;Antonarakis;Hum Mutat,1998

3. Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome;Asher;Hum Mutat,1996

4. Patient with 13 chromosome deletion: evidence that the retinoblastoma gene is a recessive cancer gene;Benedict;Science,1983

5. Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing;Bennett;BMC Genet,2001

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

2. Retinoblastoma caused by an RB1 variant with unusually low penetrance in a Danish family;European Journal of Medical Genetics;2024-08

3. Comprehensive identification of pathogenic variants in retinoblastoma by long- and short-read sequencing;Cancer Letters;2024-08

4. Etiology including epigenetic defects of retinoblastoma;Asia-Pacific Journal of Ophthalmology;2024-05

5. Molecular testing in pediatric cancers;Diagnostic Molecular Pathology;2024

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