ERN GENTURIS

Recent papers from ERN GENTURIS

1. Exploring MRI and Mammography Lesion Features for Breast Cancer Detection in PTEN Hamartoma Tumor SyndromeCancers · 2025
2. LGG-03. Predictive Value of Acquired Nystagmus for Pediatric Brain Tumor Associated Visual Impairment: A Retrospective StudyNeuro-Oncology · 2024
3. Histopathological phenotyping of cancers in PTEN Hamartoma Tumor Syndrome for improved recognition: A single‐center studyInternational Journal of Cancer · 2024
4. The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2Genetics in Medicine · 2024
5. High amount of fertility reducing tumors and procedures, but no evidence for premature ovarian failure in female Lynch syndrome patientsFamilial Cancer · 2024
6. Platform trial design for neurofibromatosis type 1, NF2-related schwannomatosis and non-NF2-related schwannomatosis: A potential model for rare diseasesNeuro-Oncology Practice · 2024
7. Optimizing expert and patient input in pediatric trial design: Lessons learned and recommendations from a collaboration between conect4children and European Patient‐CEntric ClinicAl TRial PLatformsClinical and Translational Science · 2023
8. Health-related quality of life of children with neurofibromatosis type 1: Analysis of proxy-rated PedsQL and CHQ questionnairesEuropean Journal of Paediatric Neurology · 2023
9. ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1EClinicalMedicine · 2023
10. The yield and effectiveness of breast cancer surveillance in women with PTEN Hamartoma Tumor SyndromeCancer · 2022
11. Validation and clinical application of transactivation assays forRUNX1variant classificationBlood Advances · 2022