A new human NHERF1 mutation decreases renal phosphate transporter NPT2a expression by a PTH-independent mechanism.

by Marie Courbebaisse, Christine Leroy, Naziha Bakouh, Christine Salaün, Laurent Beck, Bernard Grandchamp, Gabrielle Planelles, Randy A Hall, Gérard Friedlander, Dominique Prié
Published 2012-01-01

A Large French Case-Control Study Emphasizes the Role of Rare Mc1R Variants in Melanoma Risk

by Hui-Han Hu, Mériem Benfodda, Nicolas Dumaz, Steven Gazal, Vincent Descamps, Agnès Bourillon, Nicole Basset-Seguin, Angélique Riffault, Khaled Ezzedine, Martine Bagot, Armand Bensussan, Philippe Saiag, Bernard Grandchamp, Nadem Soufir
Published 2014-01-01

The MUC5B variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the European Caucasian population.

by Raphael Borie, Bruno Crestani, Philippe Dieude, Hilario Nunes, Yannick Allanore, Caroline Kannengiesser, Paolo Airo, Marco Matucci-Cerinic, Benoit Wallaert, Dominique Israel-Biet, Jacques Cadranel, Vincent Cottin, Steven Gazal, Anna L Peljto, John Varga, David A Schwartz, Dominique Valeyre, Bernard Grandchamp
Published 2013-01-01

Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition.

by Mélodie Aubart, Delphine Gobert, Fleur Aubart-Cohen, Delphine Detaint, Nadine Hanna, Hyacintha d'Indya, Janine-Sophie Lequintrec, Philippe Renard, Anne-Marie Vigneron, Philippe Dieudé, Jean-Pierre Laissy, Pierre Koch, Christine Muti, Joelle Roume, Veronica Cusin, Bernard Grandchamp, Laurent Gouya, Eric LeGuern, Thomas Papo, Catherine Boileau, Guillaume Jondeau
Published 2014-01-01