Identification of new RECQL4 mutations in Caucasian Rothmund–Thomson patients and analysis of sensitivity to a wide range of genotoxic agents
- 25 August 2008
- journal article
- Published by Elsevier in Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
- Vol. 643 (1-2) , 41-47
- https://doi.org/10.1016/j.mrfmmm.2008.06.002
Abstract
No abstract availableKeywords
This publication has 35 references indexed in Scilit:
- The molecular role of the Rothmund-Thomson-, RAPADILINO- and Baller-Gerold-gene product, RECQL4: recent progressCellular and Molecular Life Sciences, 2007
- RECQL, a Member of the RecQ Family of DNA Helicases, Suppresses Chromosomal InstabilityMolecular and Cellular Biology, 2007
- Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 geneJournal of Medical Genetics, 2005
- Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseasesHuman Molecular Genetics, 2003
- RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund–Thomson patientAmerican Journal of Medical Genetics Part A, 2003
- Association Between Osteosarcoma and Deleterious Mutations in the RECQL4 Gene in Rothmund-Thomson SyndromeJNCI Journal of the National Cancer Institute, 2003
- Intron-Size Constraint as a Mutational Mechanism in Rothmund-Thomson SyndromeAmerican Journal of Human Genetics, 2002
- Rothmund-Thomson syndrome due toRECQ4 helicase mutations: Report and clinical and molecular comparisons with Bloom syndrome and Werner syndromeAmerican Journal of Medical Genetics, 2000
- Rothmund–Thomson Syndrome Responsible Gene, RECQL4: Genomic Structure and ProductsGenomics, 1999
- Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndromeNature Genetics, 1999