Associated Papers
Germline Sequencing of Familial and Sporadic Early-Onset Colorectal Cancer: A Novel Pattern of Genes.
Vande Perre P et al.
International Journal of Molecular Sciences, 2025
Multigene Panel Sequencing Identifies a Novel Germline Mutation Profile in Male Breast Cancer Patients.
Al Saati A et al.
International Journal of Molecular Sciences, 2023
Germline pathogenic variants in patients with early-onset neuroendocrine neoplasms.
Riechelmann RP et al.
Endocrine-related Cancer, 2023
A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome.
Marmolejo Castañeda DH et al.
Familial Cancer, 2023
Characterization of genetic predisposition to molecular subtypes of breast cancer in Brazilian patients.
Paixão D et al.
Frontiers in Oncology, 2022
Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma.
Maciaszek JL et al.
Cold Spring Harbor Molecular Case Studies, 2019
31604778 (PubMed )
Supplement: supp_mcs.a004218_Supplemental_Tables.xlsx › Table_S4
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
Select a paper to view details