Associated Papers
Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature.
Abdelhamed Z et al.
Case Reports in Genetics, 2026
A molecular and immunohistochemical study of 37 cases of ovarian Sertoli-Leydig cell tumor.
Němejcová K et al.
Virchows Archiv : an International Journal of Pathology, 2025
Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort.
Sanabria-Salas MC et al.
European Journal of Human Genetics : Ejhg, 2025
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
Severe Phenotype With RECQL4 Syndrome: A Report of Two Cases.
Kanai Y et al.
American Journal of Medical Genetics. Part A, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Germline sequence variation in cancer genes in Rwandan breast and prostate cancer cases.
Manirakiza AV et al.
Npj Genomic Medicine, 2024
De novo myelodysplastic syndrome in a Rothmund-Thomson Syndrome patient with novel pathogenic RECQL4 variants.
Jiang C et al.
Blood Science (baltimore, Md.), 2023
[Analysis of RECQL4 gene variant in a child with Rothmund-Thomson syndrome].
Wu Q et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022
Frequency and spectrum of mutations across 94 cancer predisposition genes in African American women with invasive breast cancer.
Lovejoy LA et al.
Familial Cancer, 2021
Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.
Stolarova L et al.
Biomedicines, 2020
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
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.
Girard E et al.
International Journal of Cancer, 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
Rothmund-thomson syndrome: a 13-year follow-up.
Guerrero-González GA et al.
Case Reports in Dermatology, 2014
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