Résultat de recherche





27 - Juin - 2019

A mutation inactivating the distal SF1 binding site on the human anti-Mullerian hormone promoter causes persistent Mullerian duct syndrome (Équipe Fève) Helena F. Schteingart, Jean-YvesPicard, Clara Valeri, Ian Marshall, Dominique Treton, Nathalie di Clemente, Rodolfo A. Rey, Nathalie Josso

Hum Mol Genet. 2019;28(19):3211-8 The persistent Mullerian duct syndrome (PMDS) is a 46,XY disorder of sexual development characterized by the persistence of Mullerian duct derivatives,...


15 - Avril - 2019

Ci-hox12 tail gradient precedes and participates in the control of the apoptotic-dependent tail regression during Ciona larva metamorphosis (Équipe Prunier) G. Krasoveca, K. Robinea, E. Quéinnec, A. Karaiskoub, J.P. Chambon

Dev Biol. 2019;448(2):237-46 At the onset of the Ciona intestinalis metamorphosis, the first event is tail regression characterized, by a contraction, an apoptotic wave and Primordial Germ...



11 - Février - 2019

SERPINA1 Z allele is associated with cystic fibrosis liver disease (Équipe Corvol) Pierre-Yves Boëlle, Dominique Debray, Loic Guillot, Harriet Corvol & on behalf of the French CF Modifier Gene Study Investigators

Genetics in Medicine 2019 Purpose : The SERPINA1 Z allele is associated with cystic fibrosis (CF)-related liver disease (CFLD), a common manifestation in patients with CF. We estimated...




05 - Avril - 2019

Atmospheric pressure plasma jets applied to cancerology: correlating electrical configuration with in vivo toxicity and therapeutic efficiency (Équipe Housset) F Judée, J Vaquero, S Guégan, L Fouassier, T Dufour

Journal of Physics D: Applied Physics. 2019;52(24) Two atmospheric pressure plasma jet (APPJ) devices—a plasma gun and a plasma Tesla jet—are compared in terms of safety and...







06 - Mars - 2019

Overgrowth syndromes - clinical and molecular aspects and tumour risk (Équipe Netchine) Frédéric Brioude, Annick Toutain, Eloise Giabicani, Edouard Cottereau, Valérie Cormier-Daire, Irene Netchine

Nat Rev Endocrinol. 2019;15(5):299-311 Overgrowth syndromes are a heterogeneous group of rare disorders characterized by generalized or segmental excessive growth commonly associated with...


15 - Juin - 2019

Sleep disordered breathing in Silver−Russell syndrome patients: A new outcome (Équipe Netchine) Éloïse Giabicani, Michèle Boulé, Guillaume Aubertin, Eva Galliani, Frédéric Brioude, Béatrice Dubern, Irène Netchine

Sleep Med. 2019;on line Objective ; Imprinting disorders (ID), such as Prader−Willi syndrome (PWS), are associated with sleep-disordered breathing (SDB). No data are available for...






10 - Janvier - 2019

Predictive Value of Cellular Accumulation of Hydrophobic Bile Acids As a Marker of Cholestatic Drug Potential (Équipe Seksik/Sokol) Audrey Burban, Ahmad Sharanek, Lydie Humbert, Thibaut Eguether Christiane Guguen-Guillouzo Dominique Rainteau André Guillouzo

Toxicol Sci. 2019;168(2):474-85 Drug-induced cholestasis is mostly intrahepatic and characterized by alterations of bile canaliculi dynamics and morphology as well as accumulation of bile...

28 - Octobre - 2019

Palmitic acid damages gut epithelium integrity and initiates inflammatory cytokine production (Équipe Seksik/Sokol) Sara Ghezzal, Barbara Graziela Postal, Elodie Quevrain, Loïc Brot, Philippe Seksik, Armelle Leturque, Sophie Thenet, Véronique Carrière

Biochim Biophys Acta Mol Cell Biol Lipids. 2020;1865(2):158530 The mechanisms leading to the low-grade inflammation observed during obesity are not fully understood. Seeking the initiating...
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