Résultat de recherche

Auto-antibodies against type I IFNs in patients with life-threatening COVID-19.

Paul Bastard, Qian Zhang, Quentin Philippot, Jérémie Rosain, Vivien Beziat, Jeremy Manry, Lucy Bizien, Gaspard Kerner, Yoann Seeleuthner, Mélanie Migaud, Jérome Hadjadj, Stéphanie Boisson-Dupuis, Frédéric Rieux-Laucat, Anne Puel, Shen-Ying Zhang, Emmanuelle Jouanguy, Aurélie Cobat, Laurent Abel , Jean-Laurent CASANOVA , Bertrand Boisson, Soraya Boucherit, Jacinta Bustamante , Maya Chrabieh, Tom Le Voyer, Cécile Patissier, Manon Roynard, Natasha Vladikine, Jacinta Bustamante , Loïc de Pontual, Jérome Hadjadj, Romain Levy, Isabelle Melki, Quentin Philippot, Stanislas Lyonnet, Patrick Nitschké, Aurore POULIET, Mohammed ZARHRATE, Laurent Abel , Laurent Abel , Antonio Rausell, Laurent Abel , Jean-Laurent CASANOVA

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Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.

Qian Zhang, Paul Bastard, Cecilia Korol, Jérémie Rosain, Quentin Philippot, Lucy Bizien, Anna-Lena Neehus, Gaspard Kerner, Yoann Seeleuthner, Jeremy Manry, Yohann SCHMITT, Tom Le Voyer, Bertrand Boisson, Stéphanie Boisson-Dupuis, Jacinta Bustamante , Anne Puel, Shen-Ying Zhang, Vivien Beziat, Emmanuelle Jouanguy, Laurent Abel , Aurélie Cobat, Jean-Laurent CASANOVA , Jacinta Bustamante , Loïc de Pontual, Jérome Hadjadj, Romain Levy, Isabelle Melki, Quentin Philippot, Stanislas Lyonnet, Patrick Nitschké, Aurore POULIET, Mohammed ZARHRATE, Laurent Abel , Laurent Abel , Jean-Laurent CASANOVA

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Novel therapeutic approaches for the treatment of achondroplasia.

Laurence Legeai-Mallet

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FGFR3 in Periosteal Cells Drives Cartilage-to-Bone Transformation in Bone Repair.

Caroline Carvalho, Laurence Legeai-Mallet

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Animal models of craniosynostosis.

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New Publication

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SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.

Johanne Dubail, Céline Huber, Jeanne Amiel, Arnold Munnich, Muriel de la Dure-Molla, Valérie Cormier-Daire, Chris Gordon

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SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.

Johanne Dubail, Céline Huber, Jeanne Amiel, Arnold Munnich, Muriel de la Dure-Molla, Valérie Cormier-Daire, Chris Gordon

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XYLT1 mutations in Desbuquois dysplasia type 2.

Céline Huber, Patrick Nitschké, Arnold Munnich, Valérie Cormier-Daire

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FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.

Céline Huber, Caroline Michot, Arnold Munnich, Geneviève Baujat, Valérie Cormier-Daire

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