Associated Papers
Severe Phenotype With RECQL4 Syndrome: A Report of Two Cases.
Kanai Y et al.
American Journal of Medical Genetics. Part A, 2025
De novo myelodysplastic syndrome in a Rothmund-Thomson Syndrome patient with novel pathogenic RECQL4 variants.
Jiang C et al.
Blood Science (baltimore, Md.), 2023
Rothmund-Thomson syndrome, a disorder far from solved.
Martins DJ et al.
Frontiers in Aging, 2023
The Finnish genetic heritage in 2022 - from diagnosis to translational research.
Uusimaa J et al.
Disease Models & Mechanisms, 2022
Pathogenic mutations reveal a role of RECQ4 in mitochondrial RNA:DNA hybrid formation and resolution.
Chang CW et al.
Scientific Reports, 2020
Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma.
Maciaszek JL et al.
Cold Spring Harbor Molecular Case Studies, 2019
Tumor Syndromes Predisposing to Osteosarcoma.
Hameed M et al.
Advances in Anatomic Pathology, 2018
Human RecQL4 helicase plays multifaceted roles in the genomic stability of normal and cancer cells.
Mo D et al.
Cancer Letters, 2018
Borrowing nuclear DNA helicases to protect mitochondrial DNA.
Ding L et al.
International Journal of Molecular Sciences, 2015
RECQ DNA helicases and osteosarcoma.
Lu L et al.
Advances in Experimental Medicine and Biology, 2014
RAPADILINO RECQL4 mutant protein lacks helicase and ATPase activity.
Croteau DL et al.
Biochimica Et Biophysica Acta, 2012
The helicase and ATPase activities of RECQL4 are compromised by mutations reported in three human patients.
Jensen MB et al.
Aging, 2012
Rothmund-Thomson syndrome.
Larizza L et al.
Orphanet Journal of Rare Diseases, 2010
The mutation spectrum in RECQL4 diseases.
Siitonen HA et al.
European Journal of Human Genetics : Ejhg, 2009
The versatile RECQL4.
Kellermayer R
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.
Van Maldergem L et al.
Journal of Medical Genetics, 2006
Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping.
Larizza L et al.
Cancer Letters, 2006
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.
Siitonen HA et al.
Human Molecular Genetics, 2003