Congenital hyperinsulinism

…, C Bellanné, V Verkarre, Y Aigrain, F Jaubert… - Early human …, 2010 - Elsevier
Congenital hyperinsulinism (CHI or HI) is a condition leading to recurrent hypoglycemia due
to an inappropriate insulin secretion by the pancreatic islet β cells. HI has two main …

Aetiological diagnosis of male sex ambiguity: a collaborative study

…, L Michel-Calemard, I Mowszowicz, F Jaubert… - European journal of …, 2002 - Springer
A collaborative study, supported by the Biomed2 Programme of the European Community,
was initiated to optimise the aetiological diagnosis in genetic or gonadal males with intersex …

Donor splice-site mutations in WT1 are responsible for Frasier syndrome

…, P Niaudet, MC Gubler, JP Grünfeld, F Jaubert… - Nature …, 1997 - nature.com
Frasier syndrome (FS) is a rare disease defined by male pseudo-hermaphroditism and
progressive glomerulopathy1–3. Patients present with normal female external genitalia …

Evolution and expression of FOXL2

J Cocquet, E Pailhoux, F Jaubert, N Servel… - Journal of medical …, 2002 - jmg.bmj.com
MATERIALS AND METHODS Comparative sequence analysis To obtain the full length
mouse sequence, we directly sequenced by primer walking8 the BAC 13L19 (RP23 Mouse …

Foxl2 gene and the development of the ovary: a story about goat, mouse, fish and woman

…, E De Baeree, Y Guiguen, F Jaubert… - Reproduction …, 2005 - rnd.edpsciences.org
In this review, we describe recent results concerning the genetics of sex determination in
mammals. Particularly, we developed the study of the FOXL2 gene and its implication in …

Evaluation of gonadal function in 107 intersex patients by means of serum antimullerian hormone measurement

…, MG Forest, N Lahlou, F Jaubert… - The Journal of …, 1999 - academic.oup.com
Fetal male sexual differentiation is driven by two testicular hormones: testosterone
(synthesized by interstitial Leydig cells) and antimüllerian hormone (AMH; produced by …

Anti-Müllerian hormone is a specific marker of sertoli-and granulosa-cell origin in gonadal tumors

R Rey, JC Sabourin, M Venara, WQ Long, F Jaubert… - Human pathology, 2000 - Elsevier
Sex cord stromal tumors are gonadal neoplasms containing Sertoli, granulosa, Leydig, or
thecal cells, which originate from cells derived from either the sex cords (Sertoli and …

[HTML][HTML] Expansion of regulatory T cells in patients with Langerhans cell histiocytosis

…, V Grondin, N Patey-Mariaud de Serre, F Jaubert… - PLoS …, 2007 - journals.plos.org
Background Langerhans cell histiocytosis (LCH) is a rare clonal granulomatous disease that
affects mainly children. LCH can involve various tissues such as bone, skin, lung, bone …

Characterization of hyperinsulinism in infancy assessed with PET and 18F-fluoro-L-DOPA

…, T Delzescaux, N Boddaert, F Jaubert… - Journal of Nuclear …, 2005 - Soc Nuclear Med
Hyperinsulinism (HI) of infancy is a neuroendocrine disease secondary to either focal
adenomatous hyperplasia or a diffuse abnormality of insulin secretion of the pancreas. HI …

Cerebral microcirculation shear stress levels determine Neisseria meningitidis attachment sites along the blood–brain barrier

…, E Donnadieu, C Bernard, F Jaubert… - The Journal of …, 2006 - rupress.org
Neisseria meningitidis is a commensal bacterium of the human nasopharynx. Occasionally,
this bacterium reaches the bloodstream and causes meningitis after crossing the blood …