Molecular and cellular characterizations of human cherubism: disease aggressiveness depends on osteoclast differentiation

by Natacha Kadlub, Quentin Sessiecq, Marion Mandavit, Aurore Coulomb L’Hermine, Cecile Badoual, Louise Galmiche, Ariane Berdal, Vianney Descroix, Arnaud Picard, Amélie E. Coudert
Published 2018-09-01

Pulmonary Fibrosis in Children

by Nadia Nathan, Chiara Sileo, Guillaume Thouvenin, Laura Berdah, Céline Delestrain, Effrosyne Manali, Spyros Papiris, Pierre-Louis Léger, Hubert Ducou le Pointe, Aurore Coulomb l’Hermine, Annick Clement
Published 2019-08-01

Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood

by Effrosyni D. Manali, Marie Legendre, Nadia Nathan, Caroline Kannengiesser, Aurore Coulomb-L'Hermine, Theofanis Tsiligiannis, Pericles Tomos, Matthias Griese, Raphael Borie, Annick Clement, Serge Amselem, Bruno Crestani, Spyros A. Papiris
Published 2019-07-01

Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency

by Marie-Thérèse El-Daher, Marie-Thérèse El-Daher, Julie Lemale, Julie Bruneau, Julie Bruneau, Claire Leveau, Claire Leveau, Frédéric Guerin, Frédéric Guerin, Nathalie Lambert, Jean-Sébastien Diana, Bénédicte Neven, Fernando E. Sepulveda, Fernando E. Sepulveda, Fernando E. Sepulveda, Aurore Coulomb-L'Hermine, Thierry Molina, Thierry Molina, Capucine Picard, Capucine Picard, Capucine Picard, Alain Fischer, Alain Fischer, Alain Fischer, Geneviève de Saint Basile, Geneviève de Saint Basile, Geneviève de Saint Basile
Published 2019-11-01