Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome

著者: Vély, Frédéric, Barlogis, Vincent, Marinier, Evelyne, Coste, Marie-Edith, Dubern, Béatrice, Dugelay, Emmanuelle, Lemale, Julie, Martinez-Vinson, Christine, Peretti, Noël, Perry, Ariane, Bourgeois, Patrice, Badens, Catherine, Goulet, Olivier, Hugot, Jean-Pierre, Farnarier, Catherine, Fabre, Alexandre
出版年 Front Immunol (2018)

Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea

著者: Janecke, Andreas R., Heinz-Erian, Peter, Yin, Jianyi, Petersen, Britt-Sabina, Franke, Andre, Lechner, Silvia, Fuchs, Irene, Melancon, Serge, Uhlig, Holm H., Travis, Simon, Marinier, Evelyne, Perisic, Vojislav, Ristic, Nina, Gerner, Patrick, Booth, Ian W., Wedenoja, Satu, Baumgartner, Nadja, Vodopiutz, Julia, Frechette-Duval, Marie-Christine, De Lafollie, Jan, Persad, Rabindranath, Warner, Neil, Tse, C. Ming, Sud, Karan, Zachos, Nicholas C., Sarker, Rafiquel, Zhu, Xinjun, Muise, Aleixo M., Zimmer, Klaus-Peter, Witt, Heiko, Zoller, Heinz, Donowitz, Mark, Müller, Thomas
出版年 Hum Mol Genet (2015)

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility

著者: Esteve, Clothilde, Francescatto, Ludmila, Tan, Perciliz L., Bourchany, Aurélie, De Leusse, Cécile, Marinier, Evelyne, Blanchard, Arnaud, Bourgeois, Patrice, Brochier-Armanet, Céline, Bruel, Ange-Line, Delarue, Arnauld, Duffourd, Yannis, Ecochard-Dugelay, Emmanuelle, Hery, Géraldine, Huet, Frédéric, Gauchez, Philippe, Gonzales, Emmanuel, Guettier-Bouttier, Catherine, Komuta, Mina, Lacoste, Caroline, Maudinas, Raphaelle, Mazodier, Karin, Rimet, Yves, Rivière, Jean-Baptiste, Roquelaure, Bertrand, Sigaudy, Sabine, Stephenne, Xavier, Thauvin-Robinet, Christel, Thevenon, Julien, Sarles, Jacques, Levy, Nicolas, Badens, Catherine, Goulet, Olivier, Hugot, Jean-Pierre, Katsanis, Nicholas, Faivre, Laurence, Fabre, Alexandre
出版年 Am J Hum Genet (2018)