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

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

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

RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals

RPE65 变异 p.(E519K) 导致 83 名受影响个体出现一种新的显性遗传成人发病型黄斑病变

Van Vooren, Eline; Van Den Broeck, Filip; Mahieu, Quinten; Geens, Eline; Van Heetvelde, Mattias; De Bruyne, Marieke; Van de Sompele, Stijn; Uppal, Sheetal; Poliakov, Eugenia; Dhaenens, Claire-Marie; Gregory-Evans, Cheryl Y; Hoefsloot, Lies; Gonzalez, Adriana Iglesias; Kohl, Susanne; Zuleger, Theresia; Demaret, Tanguy; Tuupanen, Sari; Ruys, Joke; Van Os, Luc; Platteau, Elise; Jacob, Julie; Vermeer, Sascha; Postelmans, Laurence; Dahan, Karin; Maystadt, Isabelle; Rasquin, Florence; Thiadens, Alberta A H J; Stephenson, Kirk A J; Sheri, Narin; Smirnov, Vasily; MacDonald, Ian M; Gregory-Evans, Kevin; Redmond, T Michael; De Zaeytijd, Julie; Leroy, Bart P; Bauwens, Miriam; De Baere, Elfride

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature

ARID2相关疾病:进一步阐明27例新患者的临床表型并描述其表观遗传特征

Houdayer, Clara; Rooney, Kathleen; van der Laan, Liselot; Bris, Céline; Alders, Mariëlle; Bahr, Angela; Barcia, Giulia; Battault, Clarisse; Begemann, Anais; Bonneau, Dominique; Bonnevalle, Antoine; Boughalem, Aicha; Bourges, Alice; Bournez, Marie; Bruel, Ange-Line; Buhas, Daniela; Carallis, Floriane; Cogné, Benjamin; Cormier-Daire, Valérie; Delanne, Julian; Demaret, Tanguy; Denommé-Pichon, Anne-Sophie; Désir, Julie; Dubourg, Christèle; Fradin, Mélanie; Geneviève, David; Goel, Himanshu; Goldenberg, Alice; Gripp, Karen W; Guichet, Agnès; Guimier, Anne; Jacquinet, Adeline; Keren, Boris; Legoff, Louis; Levy, Michael A; McConkey, Haley; Mendelsohn, Bryce A; Mignot, Cyril; Milon, Vincent; Nizon, Mathilde; Oneda, Beatrice; Pasquier, Laurent; Patat, Olivier; Philippe, Christophe; Procaccio, Vincent; Procopio, Rebecca; Prouteau, Clément; Rambaud, Thomas; Rauch, Anita; Relator, Raissa; Rondeau, Sophie; Santen, Gijs W E; Schleit, Jennifer; Sorlin, Arthur; Steindl, Katharina; Tedder, Matt; Tessarech, Marine; Mau-Them, Frédéric Tran; Trost, Detlef; Van der Sluijs, Pleuntje J; Vincent, Marie; Whalen, Sandra; Thauvin-Robinet, Christel; Isidor, Bertrand; Sadikovic, Bekim; Vitobello, Antonio; Colin, Estelle

CEBPA-associated familial acute myeloid leukemia mimicking Werner syndrome: a case report

CEBPA相关家族性急性髓系白血病酷似沃纳综合征:病例报告

Demaret, Tanguy; Feret, Damien; Lambert, Barbara; Pranger, Delphine; Dargent, Jean-Louis; Martin Martinez, Maria Dolores; Renda, Antonio; Maystadt, Isabelle

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals.

RPE65 变异 p.(E519K) 导致 83 名受影响个体出现一种新的显性成人发病型黄斑病变

Vooren Eline Van, den Broeck Filip Van, Mahieu Quinten, Geens Eline, Heetvelde Mattias Van, De Bruyne Marieke, de Sompele Stijn Van, Uppal Sheetal, Poliakov Eugenia, Dhaenens Claire-Marie, Gregory-Evans Cheryl Y, Hoefsloot Lies, Gonzalez Adriana Iglesias, Kohl Susanne, Zuleger Theresia, Demaret Tanguy, Tuupanen Sari, Ruys Joke, Os Luc Van, Platteau Elise, Jacob Julie, Vermeer Sascha, Postelmans Laurence, Dahan Karin, Maystadt Isabelle, Rasquin Florence, Thiadens Alberta A H J, Stephenson Kirk A J, Sheri Narin, Smirnov Vasily, MacDonald Ian M, Gregory-Evans Kevin, Redmond T Michael, De Zaeytijd Julie, Leroy Bart P, Bauwens Miriam, De Baere Elfride

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

From Pancytopenia to Hyperleukocytosis, an Unexpected Presentation of Immune Reconstitution Inflammatory Syndrome in an Infant with Methylmalonic Acidemia

从全血细胞减少到白细胞增多:甲基丙二酸血症婴儿免疫重建炎症综合征的意外表现

Sassine, Samuel; Remy, Amandine; Demaret, Tanguy; Proulx, François; Autmizguine, Julie; Kakkar, Fatima; Tran, Thai Hoa; Laverdière, Caroline; Cunan, Ellery T; Maftei, Catalina; Mitchell, Grant; Decaluwe, Hélène; Hindié, Jade

Insulin therapy in acute decompensation of holocarboxylase synthetase deficiency with hyperglycemia and ketoacidosis

胰岛素治疗全羧化酶合成酶缺乏症急性失代偿伴高血糖和酮症酸中毒

Demaret, Tanguy; Joyal, Jean-Sébastien; Karalis, Aspasia; Parente, Fabienne; Delrue, Marie-Ange; Mitchell, Grant A