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TITLE: Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
AUTHORS: Vogel, Georg F.; Mozer Glassberg, Yael; Landau, Yuval E.; Schlieben, Lea D.; Prokisch, Holger; Feichtinger, Rene G.; Mayr, Johannes A.; Brennenstuhl, Heiko; Schroeter, Julian; Pechlaner, Agnes; Alkuraya, Fowzan S.; Baker, Joshua J.; Barcia, Giulia; Baric, Ivo; Braverman, Nancy; Burnyte, Birute; Christodoulou, John; Ciara, Elzbieta; Coman, David; Das, Anibh M.; Darin, Niklas; Della Marina, Adela; Distelmaier, Felix; Eklund, Erik A.; Ersoy, Melike; Fang, Weiyan; Gaignard, Pauline; Ganetzky, Rebecca D.; Gonzales, Emmanuel; Howard, Caoimhe; Hughes, Joanne; Konstantopoulou, Vassiliki; Kose, Melis; Kerr, Marina; Khan, Aneal; Lenz, Dominic; McFarland, Robert; Margolis, Merav Gil; Morrison, Kevin; Mueler, Thomas; Murayama, Kei; Nicastro, Emanuele; Pennisi, Alessandra; Peters, Heidi; Piekutowska Abramczuk, Dorota; Roetig, Agnes; Santer, Rene; Scaglia, Fernando; Sehiff, Manuel; Shagrani, Mohmmad; Sharrard, Mark; Soler Alfonso, Claudia; Staufner, Christian; Storey, Imogen; Stormon, Michael; Taylor, Robert W.; Thorburn, David R.; Teles, Elisa Leao; Wang, Jian She; Weghuber, Daniel; Wortmann, Saskia; ...More
PUBLISHED: 2023, SOURCE: GENETICS IN MEDICINE, VOLUME: 25, ISSUE: 6
INDEXED IN: Scopus WOS
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TITLE: Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency
AUTHORS: Felzen, Antonia; van Wessel, Daan B. E.; Gonzales, Emmanuel; Thompson, Richard J.; Jankowska, Irena; Shneider, Benjamin L.; Sokal, Etienne; Grammatikopoulos, Tassos; Kadaristiana, Agustina; Jacquemin, Emmanuel; Spraul, Anne; Lipinski, Patryk; Czubkowski, Piotr; Rock, Nathalie; Shagrani, Mohammad; Broering, Dieter; Nicastro, Emanuele; Kelly, Deirdre; Nebbia, Gabriella; Arnell, Henrik; Fischler, Bjoern; Hulscher, Jan B. F.; Serranti, Daniele; Arikan, Cigdem; Polat, Esra; Debray, Dominique; Lacaille, Florence; Goncalves, Cristina; Hierro, Loreto; Bartolo, Gema Munoz; Mozer Glassberg, Yael; Azaz, Amer; Brecelj, Jernej; Dezsofi, Antal; Calvo, Pier Luigi; Grabhorn, Enke; Hartleif, Steffen; van der Woerd, Wendy J.; Kamath, Binita M.; Wang, Jian She; Li, Liting; Durmaz, Ozlem; Kerkar, Nanda; Jorgensen, Marianne Horby; Fischer, Ryan; Jimenez Rivera, Carolina; Alam, Seema; Cananzi, Mara; Laverdure, Noemie; Ferreira, Cristina Targa; Guerrero, Felipe Ordonez; Wang, Heng; Sency, Valerie; Kim, Kyung Mo; Chen, Huey Ling; de Carvalho, Elisa; Fabre, Alexandre; Bernabeu, Jesus Quintero; Zellos, Aglaia; Alonso, Estella M.; Sokol, Ronald J.; Suchy, Frederick J.; Loomes, Kathleen M.; McKiernan, Patrick J.; Rosenthal, Philip; Turmelle, Yumirle; Horslen, Simon; Schwarz, Kathleen; Bezerra, Jorge A.; Wang, Kasper; Hansen, Bettina E.; Verkade, Henkjan J.; ...More
PUBLISHED: 2023, SOURCE: JHEP REPORTS, VOLUME: 5, ISSUE: 2
INDEXED IN: Scopus WOS
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TITLE: SERUM BILE ACIDS ARE ASSOCIATED WITH NATIVE LIVER SURVIVAL IN PATIENTS WITH ALAGILLE SYNDROME: RESULTS FROM THE GALA STUDY GROUP  Full Text
AUTHORS: Perez, Carla Fiorella Murillo; Vandriel, Shannon M.; Wang, Jian She; Li, Li Ting; She, Huiyu; Jankowska, Irena; Czubkowski, Piotr; Gliwicz Miedzinska, Dorota; Gonzales, Emmanuel M.; Jacquemin, Emmanuel; Bouligand, Jerome; D'Antiga, Lorenzo; Nicastro, Emanuele; Fischler, Bjorn; Arnell, Henrik; Siew, Susan; Stormon, Michael O.; Loomes, Kathleen M.; Piccoli, David A.; Rand, Elizabeth; Squires, James E.; Karpen, Saul; Romero, Rene; Kasahara, Mureo; Onal, Zerrin; Sokal, Etienne M.; Demaret, Tanguy; Wiecek, Sabina; Lacaille, Florence; Debray, Dominique; Hardikar, Winita; Shankar, Sahana; Valentino, Pamela L.; Sundaram, Shikha S.; Chaidez, Alexander; Ebel, Noelle H.; Feinstein, Jeffrey A.; Mozer Glassberg, Yael; Lin, Henry C.; Rock, Nathalie; Verkade, Henkjan J.; Jensen, M. Kyle; Jaramillo, Catalina; Kim, Kyung Mo; Oh, Seak Hee; Brecelj, Jernej; Alam, Seema; Indolfi, Giuseppe; Blondet, Niviann; Fawaz, Rima L.; Nastasio, Silvia; Calvo, Pier Luigi; Nebbia, Gabriella; Arikan, Cigdem; Larson Nath, Catherine; Zizzo, Andreanne N.; Sandahl, Thomas Damgaard; Tzivinikos, Christos; El Koofy, Nehal M.; Elmonem, Mohamed A.; Desai, Dev M.; Karnsakul, Wikrom; Karthikeyan, Palaniswamy; Bulut, Pinar; Kerkar, Nanda; Wolters, Victorien M.; Roberts, Amin J.; Evans, Helen M.; Sanchez, Maria Camila; Cavalieri, Maria Lorena; Kelly, Deirdre A.; Lee, Way Seah; Hajinicolaou, Christina; Lertudomphonwanit, Chatmanee; Fischer, Ryan T.; Bernabeu, Jesus Quintero; Quiros Tejeira, Ruben E.; Melere, Melina; Carvalho, Elisa; Eshun, John; Zellos, Aglaia; Dezsofi, Antal; Pinto, Raquel Borges; Schwarz, Kathleen B.; Rogalidou, Maria; Garcia, Jennifer; Tamara, Maria Legarda; Beretta, Marisa; Mujawar, Quais; Santos Silva, Ermelinda; Busoms, Cristina Molera; Lurz, Eberhard; Goncalves, Cristina; Jimenez Rivera, Carolina; Banales, Jesus M.; Shah, Uzma; Thompson, Richard J.; Hansen, Bettina E. E.; Kamath, Binita M.; ...More
PUBLISHED: 2023, SOURCE: Meeting of the American-Association-for-the-Study-of-Liver-Diseases (AASLD) in HEPATOLOGY, VOLUME: 78
INDEXED IN: WOS
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TITLE: Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study  Full Text
AUTHORS: Vandriel, Shannon M.; Li, Li Ting; She, Huiyu; Wang, Jian She; Gilbert, Melissa A.; Jankowska, Irena; Czubkowski, Piotr; Gliwicz Miedzinska, Dorota; Gonzales, Emmanuel M.; Jacquemin, Emmanuel; Bouligand, Jerome; Spinner, Nancy B.; Loomes, Kathleen M.; Piccoli, David A.; D'Antiga, Lorenzo; Nicastro, Emanuele; Sokal, Etienne; Demaret, Tanguy; Ebel, Noelle H.; Feinstein, Jeffrey A.; Fawaz, Rima; Nastasio, Silvia; Lacaille, Florence; Debray, Dominique; Arnell, Henrik; Fischler, Bjorn; Siew, Susan; Stormon, Michael; Karpen, Saul J.; Romero, Rene; Kim, Kyung Mo; Baek, Woo Yim; Hardikar, Winita; Shankar, Sahana; Roberts, Amin J.; Evans, Helen M.; Jensen, M. Kyle; Kavan, Marianne; Sundaram, Shikha S.; Chaidez, Alexander; Karthikeyan, Palaniswamy; Sanchez, Maria Camila; Cavalieri, Maria Lorena; Verkade, Henkjan J.; Lee, Way Seah; Squires, James E.; Hajinicolaou, Christina; Lertudomphonwanit, Chatmanee; Fischer, Ryan T.; Larson Nath, Catherine; Mozer Glassberg, Yael; Arikan, Cigdem; Lin, Henry C.; Bernabeu, Jesus Quintero; Alam, Seema; Kelly, Deirdre A.; Carvalho, Elisa; Ferreira, Cristina Targa; Indolfi, Giuseppe; Quiros Tejeira, Ruben E.; Bulut, Pinar; Calvo, Pier Luigi; Onal, Zerrin; Valentino, Pamela L.; Desai, Dev M.; Eshun, John; Rogalidou, Maria; Dezsofi, Antal; Wiecek, Sabina; Nebbia, Gabriella; Pinto, Raquel Borges; Wolters, Victorien M.; Tamara, Maria Legarda; Zizzo, Andreanne N.; Garcia, Jennifer; Schwarz, Kathleen; Beretta, Marisa; Sandahl, Thomas Damgaard; Jimenez Rivera, Carolina; Kerkar, Nanda; Brecelj, Jernej; Mujawar, Quais; Rock, Nathalie; Busoms, Cristina Molera; Karnsakul, Wikrom; Lurz, Eberhard; Santos Silva, Ermelinda; Blondet, Niviann; Bujanda, Luis; Shah, Uzma; Thompson, Richard J.; Hansen, Bettina E.; Kamath, Binita M.; ...More
PUBLISHED: 2022, SOURCE: HEPATOLOGY
INDEXED IN: WOS
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TITLE: Genotype correlates with the natural history of severe bile salt export pump deficiency
AUTHORS: Daan B E van Wessel; Richard J Thompson; Emmanuel Gonzales; Irena Jankowska; Etienne Sokal; Tassos Grammatikopoulos; Agustina Kadaristiana; Emmanuel Jacquemin; Anne Spraul; Patryk Lipinski; Piotr Czubkowski; Nathalie Rock; Mohammad Shagrani; Dieter Broering; Talal Algoufi; Nejat Mazhar; Emanuele Nicastro; Deirdre A Kelly; Gabriella Nebbia; Henrik Arnell; Bjoern Fischler; Jan B F Hulscher; Daniele Serranti; Cigdem Arikan; Esra Polat; Dominique Debray; Florence Lacaille; Cristina Goncalves; Loreto Hierro; Gema Munoz Bartolo; Yael Mozer Glassberg; Amer Azaz; Jernej Brecelj; Antal Dezsofi; Pier Luigi Calvo; Enke Grabhorn; Ekkehard Sturm; Wendy J van der Woerd; Binita M Kamath; Jian She Wang; Liting T Li; Oezlem Durmaz; Zerrin Onal; Ton M G Bunt; Bettina E Hansen; Henkjan J Verkade; ...More
PUBLISHED: 2020, SOURCE: JOURNAL OF HEPATOLOGY, VOLUME: 73, ISSUE: 1
INDEXED IN: Scopus WOS
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TITLE: PHENOTYPIC DIVERGENCE OF JAGGED1 AND NOTCH2-ASSOCIATED ALAGILLE SYNDROME: RESULTS FROM THE INTERNATIONAL MULTICENTER GALA STUDY GROUP  Full Text
AUTHORS: Shannon Vandriel; Liting T Li; Huiyu Y She; Jian She Wang; Melissa A Gilbert; Nancy B Spinner; Kathleen M Loomes; David A Piccoli; Lorenzo D'Antiga; Emanuele Nicastro; Pier Luigi Calvo; Winita Hardikar; Sahana Shankar; Rima L Fawaz; Silvia Nastasio; Pinar Bulut; Irena Jankowska; Piotr Czubkowski; Dorota Gliwicz Miedzinska; Etienne Sokal; Tanguy Demaret; Susan M Siew; Michael Stormon; Florence Lacaille; Dominique Debray; Kyung Mo Kim; Woo Yim Baek; Jeffrey A Feinstein; Noelle Ebel; Saul J Karpen; Rene Romero; Palaniswamy Karthikeyan; Suzanne Davison; Henrik Arnell; Bjorn Fischler; James E Squires; Henkjan J Verkade; Kyle K Jensen; Marianne Kavan; Amin J Roberts; Helen M Evans; Chatmanee Lertudomphonwanit; Way Seah Lee; Shikha S Sundaram; Alexander Chaidez; Ryan T Fischer; Yael Mozer Glassberg; Catherine Larson Nath; Henry Lin; Luis Bujanda; Deirdre Kelly; Wikrom Karnsakul; Jesus Quintero Bernabeu; Giuseppe Indolfi; Quais Mujawar; Pamela L Valentino; Gabriella Nebbia; Ruben E Quiros Tejeira; Nanda Kerkar; Kathleen B Schwarz; Victorien M Wolters; Seema Alam; Carolina Jimenez Rivera; Ermelinda Santos Silva; Jernej Brecelj; Maria Camila Sanchez; Maria Lorena Cavalieri; Dev M Desai; Zerrin Onal; Maria Legarda Tamara; Cristina Molera; Cigdem Arikan; Sabina Wiecek; Emmanuel M Gonzales; Richard J Thompson; Bettina E Hansen; Binita Kamath K The; ...More
PUBLISHED: 2020, SOURCE: Liver Meeting of the American-Association-for-the-Study-of-Liver-Diseases (AASLD) in HEPATOLOGY, VOLUME: 72
INDEXED IN: WOS
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TITLE: Predicting long-term outcome after surgical biliary diversion in Bsep-deficiency patients: Results from the NAPPED consortium
AUTHORS: Daan van Wessel; Richard Thompson; Tassos Grammatikopoulos; Agustina Kadaristiana; Irena Jankowska; Patryk Lipineski; Piotr Czubkowski; Emmanuel Gonzales; Emmanuel Jacquemin; Anne Spraul; Etienne Sokal; Mohammad Ali Shagrani; Dieter Clemens Broering; Talal Algoufi; Nejat Mazhar; Emanuele Nicastro; Deirdre Kelly; Gabriella Nebbia; Henrik Arnell; Bjorn Fischler; Hulscher, JBF; Daniele Serranti; Cigdem Arikan; Esra Polat; Dominique Debray; Florence Lacaille; Cristina Goncalves; Loreto Hierro; Gema M Munoz Bartolo; Yael Mozer Glassberg; Amer Azaz; Jernej Brecelj; Antal Dezsofi; Pier Luigi Calvo; Enke Grabhorn; Ekkehard Sturm; Wendy van der Woerd; Binita M Kamath; Jian She Wang; Li, LT; Ozlem Durmaz; Bettina Hansen; Henkjan Verkade; ...More
PUBLISHED: 2019, SOURCE: International Liver Congress / 54th Annual Meeting of the European-Association-for-the-Study-of-the-Liver (EASL) in JOURNAL OF HEPATOLOGY, VOLUME: 70
INDEXED IN: WOS
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TITLE: GENOTYPE-PHENOTYPE RELATIONSHIPS IN PATIENTS WITH RELATIVELY MILD MUTATIONS IN ABCB11: RESULTS FROM THE NAPPED CONSORTIUM.  Full Text
AUTHORS: Daan van Wessel; Richard J Thompson; Emmanuel M Gonzales; Irena Jankowska; Etienne M Sokal; Tassos Grammatikopoulos; Agustina Kadaristiana; Patryk Lipinski; Piotr Czubkowski; Emmanuel Jacquemin; Anne Spraul; Nathalie Rock; Mohammad Shagrani; Dieter Broering; Talal Algoufi; Nejat Mazhar; Emanuele Nicastro; Deirdre A Kelly; Gabriela Nebbia; Henrik Arnell; Bjorn Fischler; Jan Hulscher; Daniele Serranti; Cigdem Arikan; Esra Polat; Dominique Debray; Florence Lacaille; Cristina Goncalves; Loreto Hierro; Gema M Munoz Bartolo; Yael Mozer Glassberg; Amer Azaz; Jernej Brecelj; Antal Dezsofi; Pier Luigi Calvo; Enke Grabhorn; Ekkehard Sturm; Wendy Van der Woerd; Binita M Kamath; Jian She Wang; Liting T Li; Ozlem Durmaz; Bettina E Hansen; Henkjan J Verkade; ...More
PUBLISHED: 2019, SOURCE: Annual Meeting of the American-Association-for-the-Study-of-Liver-Diseases (AASLD) / Liver Meeting in HEPATOLOGY, VOLUME: 70
INDEXED IN: WOS
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TITLE: CLINICAL FEATURES AND OUTCOMES IN AN INTERNATIONAL COHORT OF 731 ALAGILLE SYNDROME PATIENTS FROM 19 COUNTRIES  Full Text
AUTHORS: Shannon Vandriel; Jian She Wang; Liting T Li; David A Piccoli; Kathleen M Loomes; Etienne M Sokal; Tanguy Demaret; Henrik Arnell; Bjorn Fischler; Rima L Fawaz; Silvia Nastasio; Winita Hardikar; Sahana Shankar; Way S Lee; Chatmanee Lertudomphonwanit; Wikrom Karnsakul; Saul J Karpen; Ryan T Fischer; Ruben E Quiros; Melina Melere; Luis Bujanda; Giuseppe Indolfi; Emanuele Nicastro; Pier Luigi Calvo; Pamela L Valentino; Kathleen B Schwarz; Ino Kanavaki; Antal Dezsofi; Quais Mujawar; Raquel B Pinto; Jernej Brecelj; Nanda Kerkar; Maria Camila Sanchez; Palaniswamy Karthikeyan; Ermelinda Santos Silva; Carolina Jimenez Rivera; Yael Mozer Glassberg; Seema Alam; Bettina E Hansen; Binita M Kamath; ...More
PUBLISHED: 2019, SOURCE: Annual Meeting of the American-Association-for-the-Study-of-Liver-Diseases (AASLD) / Liver Meeting in HEPATOLOGY, VOLUME: 70
INDEXED IN: WOS