Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis

por Le Collen, Lauriane, Delemer, Brigitte, Spodenkiewicz, Marta, Cornillet Lefebvre, Pascale, Durand, Emmanuelle, Vaillant, Emmanuel, Badreddine, Alaa, Derhourhi, Mehdi, Mouhoub, Tarik Ait, Jouret, Guillaume, Juttet, Pauline, Souchon, Pierre François, Vaxillaire, Martine, Froguel, Philippe, Bonnefond, Amélie, Doco Fenzy, Martine
Publicado 2022

Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies

por Brue, Thierry, Quentien, Marie-Hélène, Khetchoumian, Konstantin, Bensa, Marco, Capo-Chichi, José-Mario, Delemer, Brigitte, Balsalobre, Aurelio, Nassif, Christina, Papadimitriou, Dimitris T, Pagnier, Anne, Hasselmann, Caroline, Patry, Lysanne, Schwartzentruber, Jeremy, Souchon, Pierre-François, Takayasu, Shinobu, Enjalbert, Alain, Van Vliet, Guy, Majewski, Jacek, Drouin, Jacques, Samuels, Mark E
Publicado 2014

SUN-040 Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) Syndrome: Prospective Screening of Asplenism and Pneumonitis in a Cohort of 25 Patients

por Humbert, Linda, Dubucquoi, Sylvain, Kemp, Elizabeth, Saugier-Veber, Pascale, Fabien, Nicole, Isabelle, Raymond Top, Cardot-Bauters, Catherine, Maciejewski Cartigny, Maryse, Delemer, Brigitte, Docao, Christine, Carel, Jean-Claude, Guignat, Laurence, Kerlan, Veronique, Lefevre, Herve, Vanhove, Laura, Sendid, Boualem, Souchon, Pierre-François, Weill, Jacques, Vantyghem, Marie-Christine, Wemeau, Jean-Louis, Proust Lemoine, Emmanuelle
Publicado 2019