Progressive familial intrahepatic cholestasis

por Davit-Spraul, Anne, Gonzales, Emmanuel, Baussan, Christiane, Jacquemin, Emmanuel
Publicado 2009

Cholestasis Reveals Severe Cortisol Deficiency in Neonatal Pituitary Stalk Interruption Syndrome

por Mauvais, Francois-Xavier, Gonzales, Emmanuel, Davit-Spraul, Anne, Jacquemin, Emmanuel, Brauner, Raja
Publicado 2016

JAG1 and THBS2 Mutations in a Child Presenting With Incomplete Alagille Syndrome

por Almes, Marion, Gardin, Antoine, Davit-Spraul, Anne, Bouligand, Jérôme, Habes, Dalila, Jacquemin, Emmanuel
Publicado 2023

Case report: progressive familial intrahepatic cholestasis type 3 with compound heterozygous ABCB4 variants diagnosed 15 years after liver transplantation

por Goubran, Mariam, Aderibigbe, Ayodeji, Jacquemin, Emmanuel, Guettier, Catherine, Girgis, Safwat, Bain, Vincent, Mason, Andrew L.
Publicado 2020

In vitro functional rescue by ivacaftor of an ABCB11 variant involved in PFIC2 and intrahepatic cholestasis of pregnancy

por Mareux, Elodie, Lapalus, Martine, Ben-Saad, Amel, Callebaut, Isabelle, Falguières, Thomas, Gonzales, Emmanuel, Jacquemin, Emmanuel
Publicado 2021

Molecular Regulation of Canalicular ABC Transporters

por Ben Saad, Amel, Bruneau, Alix, Mareux, Elodie, Lapalus, Martine, Delaunay, Jean-Louis, Gonzales, Emmanuel, Jacquemin, Emmanuel, Aït-Slimane, Tounsia, Falguières, Thomas
Publicado 2021

CD25 Appears Non Essential for Human Peripheral T(reg) Maintenance In Vivo

por de Goër de Herve, Marie-Ghislaine, Gonzales, Emmanuel, Hendel-Chavez, Houria, Décline, Jean-Luc, Mourier, Olivia, Abbed, Karim, Jacquemin, Emmanuel, Taoufik, Yassine
Publicado 2010

Long-term Follow-up of a Randomized Trial of Tacrolimus or Cyclosporine A Microemulsion in Children Post Liver Transplantation

por Lloyd, Carla, Arshad, Adam, Jara, Paloma, Burdelski, Martin, Gridelli, Bruno, Manzanares, J., Colledan, Michele, Jacquemin, Emmanuel, Reding, Raymond, Baumann, Ulrich, Kelly, Deirdre
Publicado 2021

pCLIF-SOFA is a reliable outcome prognostication score of critically ill children with cirrhosis: an ESPNIC multicentre study

por Claude, Caroline, Deep, Akash, Kneyber, Martin, Siddiqui, Salman, Renolleau, Sylvain, Morin, Luc, Jacquemin, Emmanuel, Teglas, Jean-Paul, Gajdos, Vincent, Tissières, Pierre, Durand, Philippe
Publicado 2020

Cholic acid for primary bile acid synthesis defects: a life-saving therapy allowing a favorable outcome in adulthood

por Gonzales, Emmanuel, Matarazzo, Lorenza, Franchi-Abella, Stéphanie, Dabadie, Alain, Cohen, Joseph, Habes, Dalila, Hillaire, Sophie, Guettier, Catherine, Taburet, Anne-Marie, Myara, Anne, Jacquemin, Emmanuel
Publicado 2018

Predictors of 6-year event-free survival in Alagille syndrome patients treated with maralixibat, an ileal bile acid transporter inhibitor

por Sokol, Ronald J., Gonzales, Emmanuel M., Kamath, Binita M., Baker, Alastair, Vig, Pamela, Mogul, Douglas B., Garner, Will, Hansen, Bettina E., Jacquemin, Emmanuel, Thompson, Richard J.
Publicado 2023

In Vitro Rescue of the Bile Acid Transport Function of ABCB11 Variants by CFTR Potentiators

por Mareux, Elodie, Lapalus, Martine, Ben Saad, Amel, Zelli, Renaud, Lakli, Mounia, Riahi, Yosra, Almes, Marion, Banet, Manon, Callebaut, Isabelle, Decout, Jean-Luc, Falguières, Thomas, Jacquemin, Emmanuel, Gonzales, Emmanuel
Publicado 2022

RAB10 Interacts with ABCB4 and Regulates Its Intracellular Traffic

por Ben Saad, Amel, Vauthier, Virginie, Lapalus, Martine, Mareux, Elodie, Bennana, Evangéline, Durand-Schneider, Anne-Marie, Bruneau, Alix, Delaunay, Jean-Louis, Gonzales, Emmanuel, Housset, Chantal, Aït-Slimane, Tounsia, Guillonneau, François, Jacquemin, Emmanuel, Falguières, Thomas
Publicado 2021

Identification of a human splenic marginal zone B cell precursor with NOTCH2-dependent differentiation properties

por Descatoire, Marc, Weller, Sandra, Irtan, Sabine, Sarnacki, Sabine, Feuillard, Jean, Storck, Sébastien, Guiochon-Mantel, Anne, Bouligand, Jérôme, Morali, Alain, Cohen, Joseph, Jacquemin, Emmanuel, Iascone, Maria, Bole-Feysot, Christine, Cagnard, Nicolas, Weill, Jean-Claude, Reynaud, Claude-Agnès
Publicado 2014

Identification of a human splenic marginal zone B cell precursor with NOTCH2-dependent differentiation properties

por Descatoire, Marc, Weller, Sandra, Irtan, Sabine, Sarnacki, Sabine, Feuillard, Jean, Storck, Sébastien, Guiochon-Mantel, Anne, Bouligand, Jérôme, Morali, Alain, Cohen, Joseph, Jacquemin, Emmanuel, Iascone, Maria, Bole-Feysot, Christine, Cagnard, Nicolas, Weill, Jean-Claude, Reynaud, Claude-Agnès
Publicado 2014

Rapid and reliable diagnosis of Wilson disease using X‐ray fluorescence

por Kaščáková, Slávka, Kewish, Cameron M., Rouzière, Stéphan, Schmitt, Françoise, Sobesky, Rodolphe, Poupon, Joël, Sandt, Christophe, Francou, Bruno, Somogyi, Andrea, Samuel, Didier, Jacquemin, Emmanuel, Dubart‐Kupperschmitt, Anne, Nguyen, Tuan Huy, Bazin, Dominique, Duclos‐Vallée, Jean‐Charles, Guettier, Catherine, Le Naour, François
Publicado 2016

Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis

por Almes, Marion, Spraul, Anne, Ruiz, Mathias, Girard, Muriel, Roquelaure, Bertrand, Laborde, Nolwenn, Gottrand, Fréderic, Turquet, Anne, Lamireau, Thierry, Dabadie, Alain, Bonneton, Marjorie, Thebaut, Alice, Rohmer, Babara, Lacaille, Florence, Broué, Pierre, Fabre, Alexandre, Mention-Mulliez, Karine, Bouligand, Jérôme, Jacquemin, Emmanuel, Gonzales, Emmanuel
Publicado 2022

Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy

por Gonzales, Emmanuel, Gardin, Antoine, Almes, Marion, Darmellah-Remil, Amaria, Seguin, Hanh, Mussini, Charlotte, Franchi-Abella, Stéphanie, Duché, Mathieu, Ackermann, Oanez, Thébaut, Alice, Habes, Dalila, Hermeziu, Bogdan, Lapalus, Martine, Falguières, Thomas, Combal, Jean-Philippe, Benichou, Bernard, Valero, Sonia, Davit-Spraul, Anne, Jacquemin, Emmanuel
Publicado 2023

Inherited IL-18BP deficiency in human fulminant viral hepatitis

por Belkaya, Serkan, Michailidis, Eleftherios, Korol, Cecilia B., Kabbani, Mohammad, Cobat, Aurélie, Bastard, Paul, Lee, Yoon Seung, Hernandez, Nicholas, Drutman, Scott, de Jong, Ype P., Vivier, Eric, Bruneau, Julie, Béziat, Vivien, Boisson, Bertrand, Lorenzo-Diaz, Lazaro, Boucherit, Soraya, Sebagh, Mylène, Jacquemin, Emmanuel, Emile, Jean-François, Abel, Laurent, Rice, Charles M., Jouanguy, Emmanuelle, Casanova, Jean-Laurent
Publicado 2019

Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency

por van Wessel, Daan B.E., Thompson, Richard J., Gonzales, Emmanuel, Jankowska, Irena, Shneider, Benjamin L., Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Broering, Dieter, Algoufi, Talal, Mazhar, Nejat, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Hulscher, Jan B.F., Serranti, Daniele, Arikan, Cigdem, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Muñoz Bartolo, Gema, Mozer‐Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Luigi Calvo, Pier, Krebs‐Schmitt, Dorothee, Hartleif, Steffen, van der Woerd, Wendy L., Wang, Jian‐She, Li, Li‐ting, Durmaz, Özlem, Kerkar, Nanda, Hørby Jørgensen, Marianne, Fischer, Ryan, Jimenez‐Rivera, Carolina, Alam, Seema, Cananzi, Mara, Laverdure, Noémie, Targa Ferreira, Cristina, Ordonez, Felipe, Wang, Heng, Sency, Valerie, Mo Kim, Kyung, Chen, Huey‐Ling, Carvalho, Elisa, Fabre, Alexandre, Quintero Bernabeu, Jesus, Alonso, Estella M., Sokol, Ronald J., Suchy, Frederick J., Loomes, Kathleen M., McKiernan, Patrick J., Rosenthal, Philip, Turmelle, Yumirle, Rao, Girish S., Horslen, Simon, Kamath, Binita M., Rogalidou, Maria, Karnsakul, Wikrom W., Hansen, Bettina, Verkade, Henkjan J.
Publicado 2021