A5065850467- Neurofibromatosis and Schwannoma Cases
- Meningioma and schwannoma management
- Soft tissue tumor case studies
- Bone Tumor Diagnosis and Treatments
- Chromatin Remodeling and Cancer
- Sarcoma Diagnosis and Treatment
- Vascular Malformations Diagnosis and Treatment
- Hippo pathway signaling and YAP/TAZ
- Nerve injury and regeneration
- Cellular Mechanics and Interactions
Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
2020-2022
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by pathogenic variants in NF1 . Recently, testing has been included as a clinical criterion for diagnosis. Additionally, preconception genetic counselling patients with focuses on 50% risk of transmitting the familial variant having sporadic considered same general population. Methods 829 individuals, 583 cases and 246 documented family history, underwent NF1. Genotyping segregation analysis was determined microsatellite...
Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterised by the development of multiple schwannomas, especially on vestibular nerves, and meningiomas. The UK NF2 Genetic Severity Score (GSS) useful to predict progression disease from germline pathogenic variants, which allows clinical follow-up genetic counselling offered affected families be optimised.52 Spanish patients were classified using GSS, patients' severity was measured compared between GSS groups. reviewed...
Neurofibromatosis type 2 (NF2) is a genetic disease characterized by the appearance of multiple tumours in nervous system. Cutaneous lesions are common and may provide useful diagnostic prognostic information, but they have not been widely studied.To characterize cutaneous Spanish cohort patients with NF2 investigate associations clinical severity.We studied histologic characteristics 49 analysed correlations phenotype- genotype-based severity scores. We collected information on...
Abstract Background Neurofibromatosis Type 2 (NF2) is an autosomal dominant disorder characterized by the development of multiple schwannomas, particularly at vestibular nerves, and meningiomas. The UK NF2 Genetic Severity Score (GSS) helps predicting disease course from germline pathogenic variants, optimizing clinical follow-up genetic counselling offered to affected families. Methods Spanish Reference Center patients were classified following GSS patients’ severity was measured compared...
Abstract Neurofibromatosis type 2 (NF2) is an autosomal dominant condition caused by loss of function variants in the NF2 gene, which codes for protein Merlin, and characterized development multiple tumours nervous system. The clinical presentation disease variable related to inherited germline variant. Here, we tested if PMOs could be used correct splice signalling at +/-13 within intron-exon boundary region. Here show that designed these do not constitute a therapeutic approach....
ABSTRACT NF2-related schwannomatosis is an autosomal dominant syndrome that predisposes to the development of benign tumors nervous system. Schwannomas, particularly bilateral vestibular schwannomas (VS), are most characteristic features disease. These caused by bi-allelic inactivation NF2 gene in a cell Schwann lineage. Our current understanding molecular pathogenesis gene, as well new effective therapies hampered absence human non-perishable cell-based bearing distinct pathogenic variants....