Stability of serum ferritin measured by immunoturbidimetric assay after storage at -80°C for several years.

by Anne-Sylvia Sacri, Daniela Ferreira, Babak Khoshnood, Laurent Gouya, Henrique Barros, Martin Chalumeau
Published 2017-01-01

Management of suspected monogenic lung fibrosis in a specialised centre

by Raphael Borie, Caroline Kannengiesser, Flore Sicre de Fontbrune, Laurent Gouya, Nadia Nathan, Bruno Crestani
Published 2017-04-01

The Genetic Architecture of Chronic Mountain Sickness in Peru

by Steven Gazal, Steven Gazal, Steven Gazal, Steven Gazal, Jose R. Espinoza, Frédéric Austerlitz, Dominique Marchant, Jose Luis Macarlupu, Jorge Rodriguez, Hugo Ju-Preciado, Maria Rivera-Chira, Olivier Hermine, Olivier Hermine, Fabiola Leon-Velarde, Francisco C. Villafuerte, Jean-Paul Richalet, Jean-Paul Richalet, Laurent Gouya, Laurent Gouya
Published 2019-07-01

Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability

by Thomas Grange, Mélodie Aubart, Maud Langeois, Louise Benarroch, Pauline Arnaud, Olivier Milleron, Ludivine Eliahou, Marie-Sylvie Gross, Nadine Hanna, Catherine Boileau, Laurent Gouya, Guillaume Jondeau
Published 2020-05-01

Identification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy

by Jean-Marc Blouin, Cécile Ged, Ganeko Bernardo-Seisdedos, Txomin Cabantous, Benoît Pinson, Antoine Poli, Hervé Puy, Oscar Millet, Laurent Gouya, Fanny Morice-Picard, Emmanuel Richard
Published 2021-06-01

Erythrocyte Efferocytosis by the Arterial Wall Promotes Oxidation in Early-Stage Atheroma in Humans

by Sandrine Delbosc, Sandrine Delbosc, Richard Graham Bayles, Richard Graham Bayles, Jamila Laschet, Jamila Laschet, Veronique Ollivier, Veronique Ollivier, Benoit Ho-Tin-Noé, Benoit Ho-Tin-Noé, Ziad Touat, Ziad Touat, Catherine Deschildre, Catherine Deschildre, Marion Morvan, Marion Morvan, Liliane Louedec, Liliane Louedec, Laurent Gouya, Laurent Gouya, Kevin Guedj, Kevin Guedj, Antonino Nicoletti, Antonino Nicoletti, Jean-Baptiste Michel, Jean-Baptiste Michel
Published 2017-08-01

mRNA-based therapy in a rabbit model of variegate porphyria offers new insights into the pathogenesis of acute attacks

by Daniel Jericó, Karol M. Córdoba, Lei Jiang, Caroline Schmitt, María Morán, Ana Sampedro, Manuel Alegre, María Collantes, Eva Santamaría, Estíbaliz Alegre, Corinne Culerier, Ander Estella-Hermoso de Mendoza, Julen Oyarzabal, Miguel A. Martín, Iván Peñuelas, Matías A. Ávila, Laurent Gouya, Paolo G.V. Martini, Antonio Fontanellas
Published 2021-09-01

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

Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis

by Raphael Borie, Caroline Kannengiesser, Laurent Gouya, Clairelyne Dupin, Serge Amselem, Ibrahima Ba, Vincent Bunel, Philippe Bonniaud, Diane Bouvry, Aurélie Cazes, Annick Clement, Marie Pierre Debray, Philippe Dieude, Ralph Epaud, Pascale Fanen, Elodie Lainey, Marie Legendre, Aurélie Plessier, Flore Sicre de Fontbrune, Lidwine Wemeau-Stervinou, Vincent Cottin, Nadia Nathan, Bruno Crestani
Published 2019-12-01