Syndromic (phenotypic) diarrhea in early infancy

von Bodemer Christine, Brousse Nicole, Roquelaure Bertrand, Vinson Christine, Goulet Olivier, Cézard Jean-Pierre
Veröffentlicht 2008-02-01

Syndromic (phenotypic) diarrhea in early infancy

von Goulet, Olivier, Vinson, Christine, Roquelaure, Bertrand, Brousse, Nicole, Bodemer, Christine, Cézard, Jean-Pierre
Veröffentlicht 2008

Chronic hepatitis associated with antiribosomal‐P autoantibodies in a 14‐year‐old girl

von Mejean, Coline, Bertin, Daniel, Guetta, Kim, Desaldeleer, Cécile, Butori, Mathilde, Roquelaure, Bertrand, Fabre, Alexandre
Veröffentlicht in Clin Case Rep (2019)

Child with liver transplant recovers from COVID-19 infection. A case report

von Morand, Aurélie, Roquelaure, Bertrand, Colson, Philippe, Amrane, Sophie, Bosdure, Emmanuelle, Raoult, Didier, Lagier, Jean-Christophe, Fabre, Alexandre
Veröffentlicht in Arch Pediatr (2020)

SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

von Fabre, Alexandre, Charroux, Bernard, Martinez-Vinson, Christine, Roquelaure, Bertrand, Odul, Egritas, Sayar, Ersin, Smith, Hilary, Colomb, Virginie, Andre, Nicolas, Hugot, Jean-Pierre, Goulet, Olivier, Lacoste, Caroline, Sarles, Jacques, Royet, Julien, Levy, Nicolas, Badens, Catherine
Veröffentlicht 2012

Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome

von Thijssen, Peter E., Ito, Yuya, Grillo, Giacomo, Wang, Jun, Velasco, Guillaume, Nitta, Hirohisa, Unoki, Motoko, Yoshihara, Minako, Suyama, Mikita, Sun, Yu, Lemmers, Richard J. L. F., de Greef, Jessica C., Gennery, Andrew, Picco, Paolo, Kloeckener-Gruissem, Barbara, Güngör, Tayfun, Reisli, Ismail, Picard, Capucine, Kebaili, Kamila, Roquelaure, Bertrand, Iwai, Tsuyako, Kondo, Ikuko, Kubota, Takeo, van Ostaijen-Ten Dam, Monique M., van Tol, Maarten J. D., Weemaes, Corry, Francastel, Claire, van der Maarel, Silvère M., Sasaki, Hiroyuki
Veröffentlicht in Nat Commun (2015)

Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome

von Thijssen, Peter E., Ito, Yuya, Grillo, Giacomo, Wang, Jun, Velasco, Guillaume, Nitta, Hirohisa, Unoki, Motoko, Yoshihara, Minako, Suyama, Mikita, Sun, Yu, Lemmers, Richard J. L. F., de Greef, Jessica C., Gennery, Andrew, Picco, Paolo, Kloeckener-Gruissem, Barbara, Güngör, Tayfun, Reisli, Ismail, Picard, Capucine, Kebaili, Kamila, Roquelaure, Bertrand, Iwai, Tsuyako, Kondo, Ikuko, Kubota, Takeo, van Ostaijen-Ten Dam, Monique M., van Tol, Maarten J. D., Weemaes, Corry, Francastel, Claire, van der Maarel, Silvère M., Sasaki, Hiroyuki
Veröffentlicht in Nat Commun (2016)

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

von 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
Veröffentlicht in Am J Hum Genet (2018)