Bibliotecas PUC-SP - Busca Integrada

Subcutaneous anakinra in the management of refractory MIS-C in France

od Perrine Dusser, Alexandre Belot, Fanny Bajolle, Charlotte Kevorkian-Verguet, Ulrich Meinzer, Ulrich Meinzer, Frédéric Huet, Soizic Tiriau, Isabelle Kone-paut
Wydane w Frontiers in Pediatrics (2024-02-01)

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

od Catherine Neuwirth, Carine Freby, Agathe Ogier-Desserrey, Stéphanie Perez-Martin, Anne Houzel, André Péchinot, Jean-Marie Duez, Fréderic Huet, Eliane Siebor
Wydane w Emerging Infectious Diseases (2006-11-01)

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

od 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
Wydane w PLoS ONE (2013-01-01)

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

od 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
Wydane w ERJ Open Research (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.

od 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
Wydane w PLoS Genetics (2014-05-01)

Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France

od Estelle Bonnet, Mathias Winter, Delphine Mallet, Ingrid Plotton, Claire Bouvattier, Maryse Cartigny, Laetiti Martinerie, Michel Polak, Anne Bachelot, Frédéric Huet, Sabine Baron, Muriel Houang, Sylvie Soskin, Anne Lienhardt, Jérôme Bertherat, Cyril Amouroux, Aurore Bouty, Lise Duranteau, Rémi Besson, Alaa El Ghoneimi, Dinane Samara-Boustani, François Becmeur, Nicolas Kalfa, Françoise Paris, François Medjkane, Aude Brac de la Perrière, Patricia Bretones, Hervé Lejeune, Marc Nicolino, Pierre Mouriquand, Daniela-Brindusa Gorduza, Claire-Lise Gay
Wydane w Endocrine Connections (2023-02-01)

The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders

od Julian Delanne, Ange-Line Bruel, Frédéric Huet, Sébastien Moutton, Sophie Nambot, Margot Grisval, Nada Houcinat, Paul Kuentz, Arthur Sorlin, Patrick Callier, Nolwenn Jean-Marcais, Anne-Laure Mosca-Boidron, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Daphné Lehalle, Salima El Chehadeh, Christine Francannet, Marine Lebrun, Laetitia Lambert, Marie-Line Jacquemont, Marion Gerard-Blanluet, Jean-Luc Alessandri, Marjolaine Willems, Julien Thevenon, Mondher Chouchane, Véronique Darmency, Clémence Fatus-Fauconnier, Sébastien Gay, Marie Bournez, Alice Masurel, Vanessa Leguy, Yannis Duffourd, Christophe Philippe, François Feillet, Laurence Faivre, Christel Thauvin-Robinet
Wydane w Molecular Genetics and Metabolism Reports (2021-12-01)

PERIGENOMED-CLINICS 1—the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the rele...

od Laurence Faivre, Sylvie Odent, Laurent Pasquier, David Cheillan, Sandra Mercier, Mathilde Nizon, Juliette Piard, Christine Binquet, Martin Chevarin, Yannis Duffourd, Paul Kuentz, Frédéric Huet, Ange-Line Bruel, Christel Thauvin-Robinet, Alban Ziegler, Estelle Colin, Paul Rollier, Nicolas Mottet, Stéphane Bezieau, Richard Redon, Jean-Baptiste Arnoux, Brigitte Chabrol, Emilie Tisserant, Anne-Sophie Jannot, Frédéric Tran-Mau-Them, Amir Hassine, Caroline Racine, Hana Safraou, Maud Carpentier, Camille Level, Emeline Davoine, Margot Lemaitre, Dominique Salvi, Emmanuelle Lecommandeur, Amandine Charreton, Marie de Tayrac, Julien Barc, Sebatien Schmitt, Coline Cormier, Marlène Malbos, Véronique Tardy, Celine Bris, Léa Gaudillat, Virginie Loizeau, Camille Lenelle, Emmanuel Simon, Catherine Renaud, Catherine Lejeune, Marie-Laure Asensio
Wydane w BMJ Open (2025-10-01)