F
Francis Jaubert
Researcher at Necker-Enfants Malades Hospital
Publications - 130
Citations - 6561
Francis Jaubert is an academic researcher from Necker-Enfants Malades Hospital. The author has contributed to research in topics: Congenital hyperinsulinism & Hyperinsulinism. The author has an hindex of 49, co-authored 130 publications receiving 6250 citations. Previous affiliations of Francis Jaubert include French Institute of Health and Medical Research & Paris Descartes University.
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Journal ArticleDOI
Donor splice-site mutations in WT1 are responsible for Frasier syndrome.
Sandrine Barbaux,Patrick Niaudet,Marie-Claire Gubler,Jean-Pierre Grünfeld,Francis Jaubert,Frédérique Kuttenn,C Fekete,N. Souleyreau-Therville,Elisabeth Thibaud,Marc Fellous,Ken McElreavey +10 more
TL;DR: It is demonstrated that FS is caused by mutations in the donor splice site in intron 9 of WT1, with the predicted loss of the +KTS isoform ratio in patients with FS, as well as Denys-Drash syndrome, which has similar symptoms.
Journal ArticleDOI
Evaluation of Gonadal Function in 107 Intersex Patients by Means of Serum Antimüllerian Hormone Measurement
Rodolfo Rey,Corinne Belville,Claire Nihoul-Fékété,Laurence Michel-Calemard,Maguelone G. Forest,Najiba Lahlou,Francis Jaubert,Irène Mowszowicz,Michel David,Nurçin Saka,Claire Bouvattier,Anne-Marie Bertrand,Claudine Lecointre,Sylvie Soskin,Sylvie Cabrol,Hélène Crosnier,Juliane Léger,Stephen Lortat-Jacob,Marc Nicolino,Wolfgang Rabl,Sergio P. A. Toledo,Firdevs Bas,Anne Gompel,Paul Czernichow,Pierre Chatelain,Raphaël Rappaport,Yves Morel,Nathalie Josso +27 more
TL;DR: Serum AMH determination is a powerful tool to assess Sertoli cell function in children with intersex states, and it helps to distinguish between defects of male sexual differentiation caused by abnormal testicular determination and those resulting from isolated impairment of testosterone secretion or action.
Journal ArticleDOI
Anti-Müllerian hormone is a specific marker of sertoli- and granulosa-cell origin in gonadal tumors.
Rodolfo Rey,Jean-Christophe Sabourin,Marcela Venara,Wen-Qing Long,Francis Jaubert,W P Zeller,Pierre Duvillard,Héctor E. Chemes,Jean-Michel Bidart +8 more
TL;DR: It is concluded that AMH expression is conserved in only a small proportion of tumor cells of granulosa or Sertoli cell origin; however, a positive reaction in a few cells helps to distinguish between granulos or SERToli cell tumors or gonadoblastomas and other gonadal tumors of different origin.
Journal Article
Characterization of Hyperinsulinism in Infancy Assessed with PET and 18F-Fluoro-l-DOPA
Maria-Joao Ribeiro,Pascale de Lonlay,Thierry Delzescaux,Nathalie Boddaert,Francis Jaubert,Sandrine Bourgeois,Frédéric Dollé,Claire Nihoul-Fékété,André Syrota,Francis Brunelle +9 more
TL;DR: It is suggested that 18F-fluoro-L-DOPA could be an accurate noninvasive technique to distinguish between focal and diffuse forms of HI.
Journal ArticleDOI
Dendritic cells are early cellular targets of Listeria monocytogenes after intestinal delivery and are involved in bacterial spread in the host.
Bénédicte Pron,Claire Boumaila,Francis Jaubert,Patrick Berche,Geneviève Milon,Frederic Geissmann,Jean-Louis Gaillard +6 more
TL;DR: Evidence is provided that dendritic cells are major cellular targets of L. monocytogenes in PPs and that DCs may be involved in the early dissemination of this pathogen.