Associated Papers
Severe Phenotype With RECQL4 Syndrome: A Report of Two Cases.
Kanai Y et al.
American Journal of Medical Genetics. Part A, 2025
The correlation between clinical outcomes and genomic analysis with high risk factors for the progression of osteosarcoma.
Liu W et al.
Molecular Oncology, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
Averdunk L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Splicing-Disrupting Mutations in Inherited Predisposition to Solid Pediatric Cancer.
Alba-Pavón P et al.
Cancers, 2022
Rothmund-Thomson Syndrome-Like RECQL4 Truncating Mutations Cause a Haploinsufficient Low-Bone-Mass Phenotype in Mice.
Castillo-Tandazo W et al.
Molecular and Cellular Biology, 2021
Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals.
Nagaoka S et al.
Human Genome Variation, 2021
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma.
Maciaszek JL et al.
Cold Spring Harbor Molecular Case Studies, 2019
Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.
Colombo EA et al.
International Journal of Molecular Sciences, 2018
Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome.
van Rij MC et al.
European Journal of Pediatrics, 2017
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.
Suter AA et al.
Molecular Genetics & Genomic Medicine, 2016
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
Piard J et al.
Clinical Genetics, 2015
Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report.
De Somer L et al.
Orphanet Journal of Rare Diseases, 2010
Rothmund-Thomson syndrome.
Larizza L et al.
Orphanet Journal of Rare Diseases, 2010