Reprogramming captures the genetic and tumorigenic properties of neurofibromatosis type 1 plexiform neurofibromas

M Carrió, H Mazuelas, Y Richaud-Patin, B Gel… - Stem Cell Reports, 2019 - cell.com
Summary Neurofibromatosis type 1 (NF1) is a tumor predisposition genetic disease caused
by mutations in the NF1 tumor suppressor gene. Plexiform neurofibromas (PNFs) are benign …

Analysis of intratumor heterogeneity in Neurofibromatosis type 1 plexiform neurofibromas and neurofibromas with atypical features: Correlating histological and …

M Carrió, B Gel, E Terribas, AC Zucchiatti… - Human …, 2018 - Wiley Online Library
Plexiform neurofibromas (PNFs) are benign peripheral nerve sheath tumors involving large
nerves present in 30%–50% Neurofibromatosis type 1 (NF1) patients. Atypical …

[HTML][HTML] Unbalancing cAMP and Ras/MAPK pathways as a therapeutic strategy for cutaneous neurofibromas

H Mazuelas, M Magallón-Lorenz, I Uriarte-Arrazola… - JCI insight, 2024 - ncbi.nlm.nih.gov
Cutaneous neurofibromas (cNFs) are benign Schwann cell (SC) tumors arising from
subepidermal glia. Individuals with neurofibromatosis type 1 (NF1) may develop thousands …

Probe-Based Quantitative PCR Assay for Detecting Constitutional and Somatic Deletions in the NF1 Gene: Application to Genetic Testing and Tumor Analysis

E Terribas, C Garcia-Linares, C Lazaro… - Clinical …, 2013 - academic.oup.com
BACKGROUND About 5% of patients with neurofibromatosis type 1 (NF1) bear
constitutional microdeletions that encompass NF1 (neurofibromin 1) and neighboring genes …

Modeling neurofibromatosis type1 neurofibroma composition and formation

H Mazuelas Gallego - 2021 - diposit.ub.edu
[eng] Neurofibromatosis type 1 (NF1) is a genetic disease caused by inherited mutations in
the NF1 gene. NF1 is a cancer predisposition syndrome, and the disease's hallmark is the …

[PDF][PDF] Meritxell Carrió, Helena Mazuelas, Yvonne Richaud-Patin, 2, 3, 9 Bernat Gel, Ernest Terribas, Imma Rosas, Senda Jimenez-Delgado, 2, 3 Josep Biayna, Leen …

C Lázaro, A Raya, E Serra - scienceopen.com
SUMMARY Neurofibromatosis type 1 (NF1) is a tumor predisposition genetic disease
caused by mutations in the NF1 tumor suppressor gene. Plexiform neurofibromas (PNFs) …

[引用][C] MLPA 及测序技术在DMD/BMD 家系分析中的应用

古艳, 谢建生, 都莉, 韩春锡, 万琼 - 国际检验医学杂志, 2012