Diagnosis of mosaic mutations in the MEN1 ...
Type de document :
Article dans une revue scientifique: Lettre à l'éditeur
DOI :
PMID :
URL permanente :
Titre :
Diagnosis of mosaic mutations in the MEN1 gene by Next Generation Sequencing.
Auteur(s) :
Coppin, Lucie [Auteur]
Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer (JPArc) - U1172
Ferriere, Amandine [Auteur]
Université de Bordeaux [UB]
Crepin, Michel [Auteur]
Haissaguerre, Magalie [Auteur]
Université de Bordeaux [UB]
Ladsous, Myriam [Auteur]
Tabarin, Antoine [Auteur]
Université de Bordeaux [UB]
Odou, Marie-Francoise [Auteur]
Lille Inflammation Research International Center - U 995 [LIRIC]
Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer (JPArc) - U1172
Ferriere, Amandine [Auteur]
Université de Bordeaux [UB]
Crepin, Michel [Auteur]
Haissaguerre, Magalie [Auteur]
Université de Bordeaux [UB]
Ladsous, Myriam [Auteur]
Tabarin, Antoine [Auteur]
Université de Bordeaux [UB]
Odou, Marie-Francoise [Auteur]
Lille Inflammation Research International Center - U 995 [LIRIC]
Titre de la revue :
European Journal of Endocrinology
Nom court de la revue :
Eur. J. Endocrinol.
Numéro :
180
Pagination :
L1–L3
Date de publication :
2019-02-01
ISSN :
1479-683X
Discipline(s) HAL :
Sciences du Vivant [q-bio]
Résumé en anglais : [en]
We recently read with interest the review article of Persani et al. (1) who highlighted the occurrence of unexpected results obtained by next generation sequencing (NGS) with the identification of novel candidate genes or ...
Lire la suite >We recently read with interest the review article of Persani et al. (1) who highlighted the occurrence of unexpected results obtained by next generation sequencing (NGS) with the identification of novel candidate genes or variants in non-coding regions. In complement to their review, we report herein for the first time two cases of MEN1 mosaic mutations identified only by NGS, a finding that emphasizes the usefulness of this tool in current endocrine practice.Lire moins >
Lire la suite >We recently read with interest the review article of Persani et al. (1) who highlighted the occurrence of unexpected results obtained by next generation sequencing (NGS) with the identification of novel candidate genes or variants in non-coding regions. In complement to their review, we report herein for the first time two cases of MEN1 mosaic mutations identified only by NGS, a finding that emphasizes the usefulness of this tool in current endocrine practice.Lire moins >
Langue :
Anglais
Audience :
Internationale
Vulgarisation :
Non
Établissement(s) :
CHU Lille
Inserm
Université de Lille
Inserm
Université de Lille
Date de dépôt :
2019-10-22T08:28:05Z
2021-05-14T08:30:55Z
2023-12-15T10:23:26Z
2021-05-14T08:30:55Z
2023-12-15T10:23:26Z