Optimization of Next-Generation Sequencing Technologies for von Hippel Lindau (VHL) Mosaic Mutation Detection and Development of Confirmation Methods

Autor: Catherine Cardot-Bauters, Michel Crépin, Pascal Plouvier, Pascal Pigny, Stéphane Richard, Emilie Ait Yahya, Brigitte Bressac-de Paillerets, Lucie Coppin, Sophie Lejeune, Anne-Sophie Jourdain, Julie Leclerc

Publikováno v: Journal of Molecular Diagnostics
Journal of Molecular Diagnostics, 2019, 21, pp.462-470. ⟨10.1016/j.jmoldx.2019.01.005⟩
Journal of Molecular Diagnostics, American Society for Investigative Pathology (ASIP), 2019, 21, pp.462-470. ⟨10.1016/j.jmoldx.2019.01.005⟩

Von Hippel-Lindau disease (VHL) is a monogenic disorder characterized by the development of tumors affecting the central nervous system, kidney, pancreas, or adrenal glands, and due to germline mutations in the VHL tumor suppressor gene. About 5% of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c43f52c86e2e147c56ba834992d7d072
https://hal.archives-ouvertes.fr/hal-03486408/file/S1525157818302599.pdf

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Autor: Philippe Lefebvre, Pierre Formstecher, Céline Brand, Pascaline Segard, Pascal Plouvier, Pierre-Marie Danze

Publikováno v: BMC Pharmacology. 2:13

Background Retinoids are very potent inducers of cellular differentiation and apoptosis, and are efficient anti-tumoral agents. Synthetic retinoids are designed to restrict their toxicity and side effects, mostly by increasing their selectivity towar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::568a82c884a00528e02811d67f1fa907
https://doi.org/10.1186/1471-2210-2-13