日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Autoantibodies neutralizing type I IFNs in patients with fulminant herpes simplex virus hepatitis

暴发性单纯疱疹病毒性肝炎患者体内中和 I 型干扰素的自身抗体

Gervais, Adrian; Marchal, Astrid; Boucherit, Soraya; Abi Haidar, Anthony; Bizien, Lucy; Yalcinkaya, Ahmet; Sandström, Ella; Kong, Xiao-Fei; Jacquemin, Emmanuel; Bernard, Olivier; Debray, Dominique; Lacaille, Florence; Ichai, Philippe; Arikan, Cigdem; Javouhey, Etienne; Roquelaure, Bertrand; Gottrand, Frédéric; Trespidi, Francesca; Codullo, Veronica; Cavagna, Lorenzo; Schleinitz, Nicolas; Bousfiha, Mohamed; Amenzoui, Naima; Bousfiha, Ahmed Aziz; Jørgensen, Sofie E; Mørk, Nanna; Mogensen, Trine H; Bastard, Paul; Puel, Anne; Borghesi, Alessandro; Rule, Jody A; Lee, William M; Landegren, Nils; Cobat, Aurélie; Casanova, Jean-Laurent; Jouanguy, Emmanuelle

Echocardiography, Bile Acids and Spleen Stiffness to Rule Out High-Risk Varices in Children With Biliary Atresia

超声心动图、胆汁酸和脾脏硬度检查可排除胆道闭锁患儿的高危静脉曲张

Lambert, Virginie; Teglas, Jean-Paul; Ackermann, Oanez; Franchi-Abella, Stéphanie; Tiret, Alice; Veil, Raphaël; Bernard, Olivier; Gonzales, Emmanuel; Jacquemin, Emmanuel; Duché, Mathieu

Molecular characterisation of the trafficking rescue of defective ABCB4 variants by roscovitine analogues

罗斯科维汀类似物对缺陷型ABCB4变体转运拯救作用的分子特征

Banet, Manon; Crespi, Veronica; Elie, Jonathan; Riahi, Yosra; Lakli, Mounia; Mareux, Elodie; Gonzales, Emmanuel; Jacquemin, Emmanuel; Meijer, Laurent; Lapalus, Martine; Di Meo, Florent; Falguières, Thomas

Whole Exome Sequencing in Children With Autoimmune Hepatitis Identified Mutations in Genes Involved in the mTORC1 Signaling Pathway

对患有自身免疫性肝炎的儿童进行全外显子组测序,发现参与 mTORC1 信号通路的基因存在突变

Gaigne, Léa-Philippine; Besnard, Caroline; Debeaupuis, Orianne; Degtiar, Artem; Nhat, Duong Ho; Stolzenberg, Marie-Claude; Camara, Fatou; Pellé, Olivier; Schvartz, Adrien; Perin, Mélodie; Almes, Marion; Darmellah-Remil, Amaria; Gonzales, Emmanuel; Gardin, Antoine; Habes, Dalila; Destombe, Sylvie; De Martin, Eleonora; Duclos-Vallée, Jean-Charles; Arkwright, Peter D; Rieux-Laucat, Frédéric; Jacquemin, Emmanuel; Magerus, Aude

Condition-Specific Growth Charts for Children With Alagille Syndrome

阿拉吉尔综合征患儿的特定生长曲线图

Huysentruyt, Koen; Vandriel, Shannon M; Roelants, Mathieu; Piccoli, David A; Loomes, Kathleen M; Rand, Elizabeth B; Ebel, Noelle H; Feinstein, Jeffrey A; Jankowska, Irena; Czubkowski, Piotr; Gliwicz-Miedzinska, Dorota; Gonzales, Emmanuel M; Jacquemin, Emmanuel; Bouligand, Jérôme; Karpen, Saul J; Romero, Rene; Lin, Henry C; Fischler, Björn; Arnell, Henrik; Li, Li-Ting; Wang, Jian-She; Fawaz, Rima; Nastasio, Silvia; Kim, Kyung Mo; Oh, Seak Hee; D'Antiga, Lorenzo; Nicastro, Emanuele; Fischer, Ryan T; Siew, Susan M; Stormon, Michael; Lertudomphonwanit, Chatmanee; Hardikar, Winita; Shankar, Sahana; Squires, James E; Sundaram, Shikha S; Larson-Nath, Catherine; Kelly, Deirdre A; Hartley, Jane; Bulut, Pinar; Jensen, M Kyle; Jaramillo, Catalina; Roberts, Amin J; Evans, Helen M; Sokal, Étienne M; Demaret, Tanguy; Verkade, Henkjan J; Thompson, Richard J; Hansen, Bettina E; Cole, Tim J; Kamath, Binita M; Debray, Dominique; Lacaille, Florence; Brecelj, Jernej; El-Koofy, Nehal M; Elmonem, Mohamed A; Lee, Way Seah; Sanchez, Maria Camila; Cavalieri, Maria Lorena; Hajinicolaou, Christina; Schwarz, Kathleen B; Carvalho, Elisa; Rock, Nathalie; Karnsakul, Wikrom; Quiros-Tejeira, Ruben E; Alam, Seema; Nebbia, Gabriella; Mozer-Glassberg, Yael; Valentino, Pamela L; Santos-Silva, Ermelinda; Önal, Zerrin; Dezsofi-Gottl, Antal; Melere, Melina; Legarda Tamara, María; Eshun, John; Zellos, Aglaia; Indolfi, Giuseppe; Rogalidou, Maria; Blondet, Niviann; Luigi Calvo, Pier; Beretta, Marisa; Zizzo, Andréanne N; Arikan, Cigdem; Kasahara, Mureo; Kerkar, Nanda; Aqul, Amal A; Wolters, Victorien M; Borges Pinto, Raquel; Quintero Bernabeu, Jesus; Garcia, Jennifer; Wiecek, Sabina; Tzivinikos, Christos; Mujawar, Quais; Jimenez-Rivera, Carolina; Molera Busoms, Cristina; Gonçalves, Cristina; Bujanda, Luis

Comment on opinion paper on the diagnosis and treatment of progressive familial intrahepatic cholestasis

对进行性家族性肝内胆汁淤积症的诊断和治疗的意见书的评论

Gonzales, Emmanuel; Thompson, Richard J; Jacquemin, Emmanuel

Phenotypic Divergence of JAG1- and NOTCH2-Associated Alagille Syndrome & Disease-Specific NOTCH2 Variant Classification Guidelines

JAG1 和 NOTCH2 相关阿拉吉尔综合征的表型差异及疾病特异性 NOTCH2 变异分类指南

Vandriel, Shannon M; Li, Li-Ting; She, Huiyu; Wang, Jian-She; Loomes, Kathleen M; Piccoli, David A; Jankowska, Irena; Czubkowski, Piotr; Gliwicz-Miedzińska, Dorota; D'Antiga, Lorenzo; Nicastro, Emanuele; Lacaille, Florence; Debray, Dominique; Sokal, Étienne M; Demaret, Tanguy; Fawaz, Rima L; Nastasio, Silvia; Kim, Kyung Mo; Oh, Seak Hee; Fischler, Björn; Arnell, Henrik; Larson-Nath, Catherine; Hardikar, Winita; Shankar, Sahana; Sundaram, Shikha S; Chaidez, Alexander; Bulut, Pinar; Calvo, Pier Luigi; Kasahara, Mureo; Blondet, Niviann; Lurz, Eberhard; Kavallar, Anna-Maria; Gonzales, Emmanuel M; Jacquemin, Emmanuel; Bouligand, Jérôme; Ebel, Noelle H; Feinstein, Jeffrey A; Siew, Susan M; Stormon, Michael O; Karpen, Saul J; Romero, Rene; Jensen, M Kyle; Jaramillo, Catalina; Squires, James E; Bedoyan, Sarah M; Kelly, Deirdre A; Hartley, Jane; Verkade, Henkjan J; Lee, Way Seah; Lertudomphonwanit, Chatmanee; Fischer, Ryan T; Lin, Henry C; Rock, Nathalie; Mozer-Glassberg, Yael; Roberts, Amin J; Evans, Helen M; Karnsakul, Wikrom; Nebbia, Gabriella; Wolters, Victorien M; Valentino, Pamela L; Bernabeu, Jesus Quintero; Aqul, Amal A; Arikan, Cigdem; Tamara, María Legarda; Busoms, Cristina Molera; Sandahl, Thomas Damgaard; Indolfi, Giuseppe; Zizzo, Andréanne N; Zellos, Aglaia; Quiros-Tejeira, Ruben E; Santos-Silva, Ermelinda; Schwarz, Kathleen B; Brecelj, Jernej; Sanchez, Maria Camila; Cavalieri, Maria Lorena; Tzivinikos, Christos; Wiecek, Sabina; Eshun, John; Kerkar, Nanda; Mujawar, Quais; Önal, Zerrin; Gonçalves, Cristina; Garcia, Jennifer; Alam, Seema; Jimenez-Rivera, Carolina; Bujanda, Luis; Thompson, Richard J; Hansen, Bettina E; Spinner, Nancy B; Gilbert, Melissa A; Kamath, Binita M

Elevated Serum Bile Acids Predict Poor Liver Outcomes in Children With Alagille Syndrome: Results From the GALA Study Group

血清胆汁酸水平升高预示阿拉吉勒综合征患儿肝脏预后不良:GALA研究组的结果

Perez, Carla Fiorella Murillo; Vandriel, Shannon M; Gonzales, Emmanuel M; Wang, Jian-She; Li, Li-Ting; She, Huiyu; Jankowska, Irena; Czubkowski, Piotr; Gliwicz-Miedzińska, Dorota; Jacquemin, Emmanuel; Bouligand, Jérôme; D'Antiga, Lorenzo; Nicastro, Emanuele; Fischler, Björn; Arnell, Henrik; Siew, Susan M; Stormon, Michael; Loomes, Kathleen M; Piccoli, David A; Rand, Elizabeth B; Squires, James E; Karpen, Saul J; Romero, Rene; Kasahara, Mureo; Önal, Zerrin; Sokal, Étienne; Demaret, Tanguy; Wiecek, Sabina; Lacaille, Florence; Debray, Dominique; Hardikar, Winita; Shankar, Sahana; Valentino, Pamela L; Sundaram, Shikha S; Ebel, Noelle H; Feinstein, Jeffrey A; Waisbourd-Zinman, Orith; Lin, Henry C; Rock, Nathalie; Verkade, Henkjan J; Jensen, M Kyle; Jaramillo, Catalina; Kim, Kyung Mo; Oh, Seak Hee; Brecemiclj, Jernej; Alam, Seema; Indolfi, Giuseppe; Blondet, Niviann; Fawaz, Rima; Nastasio, Silvia; Calvo, Pier Luigi; Nebbia, Gabriella; Arikan, Cigdem; Larson-Nath, Catherine; Zizzo, Andréanne N; Sandahl, Thomas Damgaard; Tzivinikos, Christos; El-Koofy, Nehal M; Elmonem, Mohamed A; Aqul, Amal A; Karnsakul, Wikrom; Bulut, Pinar; Kerkar, Nanda; Wolters, Victorien M; Roberts, Amin J; Evans, Helen M; Sanchez, Maria Camila; Cavalieri, Maria Lorena; Kelly, Deirdre A; Hartley, Jane; Lee, Way Seah; Hajinicolaou, Christina; Lertudomphonwanit, Chatmanee; Fischer, Ryan T; Bernabeu, Jesus Quintero; Quiros-Tejeira, Ruben E; Ferreira, Cristina Targa; Carvalho, Elisa; Eshun, John; Zellos, Aglaia; Dezsőfi, Antal; Pinto, Raquel Borges; Schwarz, Kathleen; Rogalidou, Maria; Garcia, Jennifer; Tamara, María Legarda; Beretta, Marisa; Mujawar, Quais; Santos-Silva, Ermelinda; Busoms, Cristina Molera; Lurz, Eberhard; Gonçalves, Cristina; Jimenez-Rivera, Carolina; Banales, Jesus M; Thompson, Richard J; Hansen, Bettina E; Kamath, Binita M

Correction of a Traffic-Defective Missense ABCB11 Variant Responsible for Progressive Familial Intrahepatic Cholestasis Type 2.

纠正导致进行性家族性肝内胆汁淤积症 2 型的交通缺陷错义 ABCB11 变异

Lapalus Martine, Mareux Elodie, Amzal Rachida, Drège Emmanuelle, Riahi Yosra, Petit Sylvain, Banet Manon, Falguières Thomas, Callebaut Isabelle, Figadère Bruno, Joseph Delphine, Gonzales Emmanuel, Jacquemin Emmanuel

Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA

与来自 GALA 的真实世界队列相比,接受 maralixibat 治疗的 Alagille 综合征患者的无事件生存期

Hansen, Bettina E; Vandriel, Shannon M; Vig, Pamela; Garner, Will; Mogul, Douglas B; Loomes, Kathleen M; Piccoli, David A; Rand, Elizabeth B; Jankowska, Irena; Czubkowski, Piotr; Gliwicz-Miedzińska, Dorota; Gonzales, Emmanuel M; Jacquemin, Emmanuel; Bouligand, Jérôme; D'Antiga, Lorenzo; Nicastro, Emanuele; Arnell, Henrik; Fischler, Björn; Sokal, Étienne; Demaret, Tanguy; Siew, Susan; Stormon, Michael; Karpen, Saul J; Romero, Rene; Ebel, Noelle H; Feinstein, Jeffrey A; Roberts, Amin J; Evans, Helen M; Sundaram, Shikha S; Chaidez, Alexander; Hardikar, Winita; Shankar, Sahana; Fischer, Ryan T; Lacaille, Florence; Debray, Dominique; Lin, Henry C; Jensen, M Kyle; Jaramillo, Catalina; Karthikeyan, Palaniswamy; Indolfi, Giuseppe; Verkade, Henkjan J; Larson-Nath, Catherine; Quiros-Tejeira, Ruben E; Valentino, Pamela L; Rogalidou, Maria; Dezsőfi, Antal; Squires, James E; Schwarz, Kathleen; Calvo, Pier Luigi; Bernabeu, Jesus Quintero; Zizzo, Andréanne N; Nebbia, Gabriella; Bulut, Pinar; Santos-Silva, Ermelinda; Fawaz, Rima; Nastasio, Silvia; Karnsakul, Wikrom; Tamara, María Legarda; Busoms, Cristina Molera; Kelly, Deirdre A; Sandahl, Thomas Damgaard; Jimenez-Rivera, Carolina; Banales, Jesus M; Mujawar, Quais; Li, Li-Ting; She, Huiyu; Wang, Jian-She; Kim, Kyung Mo; Oh, Seak Hee; Sanchez, Maria Camila; Cavalieri, Maria Lorena; Lee, Way Seah; Hajinicolaou, Christina; Lertudomphonwanit, Chatmanee; Waisbourd-Zinman, Orith; Arikan, Cigdem; Alam, Seema; Carvalho, Elisa; Melere, Melina; Eshun, John; Önal, Zerrin; Desai, Dev M; Wiecek, Sabina; Pinto, Raquel Borges; Wolters, Victorien M; Garcia, Jennifer; Beretta, Marisa; Kerkar, Nanda; Brecelj, Jernej; Rock, Nathalie; Lurz, Eberhard; Blondet, Niviann; Shah, Uzma; Thompson, Richard J; Kamath, Binita M