VEB-1 in Achromobacter xylosoxidans from Cystic Fibrosis Patient, France

by Catherine Neuwirth, Carine Freby, Agathe Ogier-Desserrey, Stéphanie Perez-Martin, Anne Houzel, André Péchinot, Jean-Marie Duez, Fréderic Huet, Eliane Siebor
Published 2006-11-01

An improved method to extract DNA from 1 ml of uncultured amniotic fluid from patients at less than 16 weeks' gestation.

by Anne-Laure Mosca-Boidron, Laurence Faivre, Serge Aho, Nathalie Marle, Caroline Truntzer, Thierry Rousseau, Clémence Ragon, Muriel Payet, Christelle Thauvin-Robinet, Julien Thevenon, Salima El Chehadeh, Fréderic Huet, Paul Sagot, Francine Mugneret, Patrick Callier
Published 2013-01-01

Chest physiotherapy enhances detection of Pseudomonas aeruginosa in nonexpectorating children with cystic fibrosis

by Christophe Marguet, Véronique Houdouin, Isabelle Pin, Philippe Reix, Frédéric Huet, Marie Mittaine, Sophie Ramel, Nathalie Wizla-Derambure, Michel Abely, Marie-Laure Dalphin, Michael Fayon, Tiphaine Bihouée, Muriel Le Bourgeois, Eric Deneuville, Harriet Corvol, Muriel Laurans, Laure Couderc, Evelyne Leroux, Ludovic Lémée
Published 2021-03-01

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.

by Patrick Callier, Pierre Calvel, Armine Matevossian, Periklis Makrythanasis, Pascal Bernard, Hiroshi Kurosaka, Anne Vannier, Christel Thauvin-Robinet, Christelle Borel, Séverine Mazaud-Guittot, Antoine Rolland, Christèle Desdoits-Lethimonier, Michel Guipponi, Céline Zimmermann, Isabelle Stévant, Françoise Kuhne, Béatrice Conne, Federico Santoni, Sandy Lambert, Frederic Huet, Francine Mugneret, Jadwiga Jaruzelska, Laurence Faivre, Dagmar Wilhelm, Bernard Jégou, Paul A Trainor, Marilyn D Resh, Stylianos E Antonarakis, Serge Nef
Published 2014-05-01