Rezultaty - Emmanuel Gonzalès
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Successful mutation-specific chaperone therapy with 4-phenylbutyrate in a child with progressive familial intrahepatic cholestasis type 2 od Emmanuel Gonzalès, Brigitte Grosse, Doris Cassio, Anne Davit–Spraul, Monique Fabrè, Emmanuel Jacquemin
Wydane 2012Artigo -
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Atp8b1 and Abcb11 Analysis in 62 Children With Normal Gamma-Glutamyl Transferase Progressive Familial Intrahepatic Cholestasis (Pfic): Phenotypic Differences Between Pfic1 and Pfic... od Anne Davit–Spraul, Monique Fabrè, Sophie Branchereau, Christiane Baussan, Emmanuel Gonzalès, Bruno Stieger, Olivier Bernard, Emmanuel Jacquemin
Wydane 2010Artigo -
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MYO5B mutations cause cholestasis with normal serum gamma‐glutamyl transferase activity in children without microvillous inclusion disease od Emmanuel Gonzalès, Sarah A. Taylor, Anne Spraul, Alice Thébaut, N Thomassin, Catherine Guettier, Peter F. Whitington, Emmanuel Jacquemin
Wydane 2016Artigo -
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Relapsing features of bile salt export pump deficiency after liver transplantation in two patients with progressive familial intrahepatic cholestasis type 2 od Giuseppe Maggiore, Emmanuel Gonzalès, Marco Sciveres, M Redon, Brigitte Grosse, Bruno Stieger, Anne Davit–Spraul, Monique Fabrè, Emmanuel Jacquemin
Wydane 2010Artigo -
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Cholic acid for primary bile acid synthesis defects: a life-saving therapy allowing a favorable outcome in adulthood od Emmanuel Gonzalès, Lorenza Matarazzo, Stéphanie Franchi‐Abella, A. Dabadie, Joseph S. Cohen, Dalila Habès, Sophie Hillaire, Catherine Guettier, Anne‐Marie Taburet, Anne Myara, Emmanuel Jacquemin
Wydane 2018Artigo -
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Correction of a Traffic-Defective Missense ABCB11 Variant Responsible for Progressive Familial Intrahepatic Cholestasis Type 2 od Martine Lapalus, Elodie Mareux, Rachida Amzal, Emmanuelle Drège, Yosra Riahi, S. Petit, Manon Banet, Thomas Falguières, Isabelle Callebaut, Bruno Figadère, Delphine Joseph, Emmanuel Gonzalès, Emmanuel Jacquemin
Wydane 2025Artigo -
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Long-term outcome of liver transplantation in childhood: A study of 20-year survivors od J.G. Martinelli, Dalila Habès, Lamees Majed, Catherine Guettier, Emmanuel Gonzalès, Agnès Linglart, Christine Larue, V. Furlan, D. Pariente, Catherine Baujard, Sophie Branchereau, Frédéric Gauthier, Emmanuel Jacquemin, Olivier Bernard
Wydane 2017Artigo -
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ATP release after partial hepatectomy regulates liver regeneration in the rat od Emmanuel Gonzalès, Boris Julien, Valérie Serrière-Lanneau, Alexandra Nicou, Isabelle Doignon, Laura Lagoudakis, Isabelle Garcin, Daniel Azoulay, Jean‐Charles Duclos‐Vallée, Denis Castaing, Didier Samuel, Andrés Hernández, Samir S. Awad, Laurent Combettes, Sundararajah Thevananther, Thierry Tordjmann
Wydane 2009Artigo -
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Efficacy and safety of maralixibat treatment in patients with Alagille syndrome and cholestatic pruritus (ICONIC): a randomised phase 2 study od Emmanuel Gonzalès, Winita Hardikar, Michael Stormon, Alastair Baker, Loreto Hierro, Dorota Gliwicz, Florence Lacaille, Alain Lachaux, Ekkehard Sturm, Kenneth D.R. Setchell, Ciara Kennedy, Alejandro Dorenbaum, Jana I. Steinmetz, Nirav K. Desai, Andrew J Wardle, Will Garner, Pamela Vig, Thomas Jaecklin, Étienne Sokal, Emmanuel Jacquemin
Wydane 2021Artigo -
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<i>DCDC2</i>Mutations Cause Neonatal Sclerosing Cholangitis od M Girard, Albane A. Bizet, Alain Lachaux, Emmanuel Gonzalès, Emilie Filhol, Sophie Collardeau‐Frachon, Marc Jeanpierre, C. Henry, Monique Fabrè, Loïc Viremouneix, Louise Galmiche, Dominique Debray, Christine Bôle‐Feysot, Patrick Nitschké, Danièle Pariente, Catherine Guettier, Stanislas Lyonnet, Laurence Heidet, Aurélia Bertholet, Emmanuel Jacquemin, Alexandra Henrion‐Caude, Sophie Saunier
Wydane 2016Artigo -
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Single-cell multiomics reveals the interplay of clonal evolution and cellular plasticity in hepatoblastoma od Amélie Roehrig, Théo Z. Hirsch, Aurore Pire, Guillaume Morcrette, Barkha Gupta, Charles Marcaillou, Sandrine Imbeaud, Christophe Chardot, Emmanuel Gonzalès, Emmanuel Jacquemin, Masahiro Sekiguchi, Junko Takita, Genta Nagae, Eiso Hiyama, Florent Guérin, Monique Fabrè, Isabelle Aerts, Sophie Taque, Véronique Laithier, Sophie Branchereau, Catherine Guettier, Laurence Brugières, Brice Fresneau, Jessica Zucman‐Rossi, Éric Letouzé
Wydane 2024Artigo -
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Integrated Genomic Analysis Identifies Driver Genes and Cisplatin-Resistant Progenitor Phenotype in Pediatric Liver Cancer od Théo Z. Hirsch, Jill Pilet, Guillaume Morcrette, Amélie Roehrig, Benedict J.E. Monteiro, Laura Molina, Quentin Bayard, Eric Trépo, Léa Meunier, Stefano Caruso, Victor Renault, Jean‐François Deleuze, Brice Fresneau, Christophe Chardot, Emmanuel Gonzalès, Emmanuel Jacquemin, Florent Guérin, Monique Fabrè, Isabelle Aerts, Sophie Taque, Véronique Laithier, Sophie Branchereau, Catherine Guettier, Laurence Brugières, Sandra Rebouissou, Éric Letouzé, Jessica Zucman‐Rossi
Wydane 2021Artigo -
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Inherited CARD9 Deficiency in 2 Unrelated Patients With Invasive Exophiala Infection od Fanny Lanternier, Elisa Barbati, Ulrich Meinzer, Luyan Liu, Vincent Pedergnana, Mélanie Migaud, Sebastien Héritier, Maryline Chomton, Marie‐Louise Frémond, Emmanuel Gonzalès, Caroline Galeotti, Serge Romana, Emmanuel Jacquemin, A. Angoulvant, Valeska Bidault, Danielle Canioni, Julie Lachenaud, Davood Mansouri, Seyed Alireza Mahdaviani, Parvaneh Adimi, Nahal Mansouri, Mahin Jamshidi Makiani, Marie‐Elisabeth Bougnoux, Laurent Abel, Olivier Lortholary, Stéphane Blanche, Jean‐Laurent Casanova, Capucine Pïcard, Anne Puel
Wydane 2014Artigo
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Medicine
Internal medicine
Biology
Cholestasis
Gene
Genetics
Gastroenterology
Liver transplantation
Transplantation
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Bile acid
Liver disease
Phenotype
Portal hypertension
Progressive familial intrahepatic cholestasis
Disease
Alagille syndrome
Biochemistry
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Bile Salt Export Pump
Biliary atresia
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