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

Thyrotoxicosis in MCT8 deficiency

MCT8 缺乏症引起的甲状腺毒症

Boelaert, Kristien; Bauer, Andrew; Cappola, Anne R; Chatterjee, Krishna; Dietrich, Johannes W; Nicol, Lindsey; Persani, Luca; Razvi, Salman; Stoupa, Athanasia

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration

通过基因组、表型、功能、结构和深度学习整合,将甲状腺激素转运蛋白MCT8的变异与疾病严重程度联系起来。

Groeneweg, Stefan; van Geest, Ferdy S; Martín, Mariano; Dias, Mafalda; Frazer, Jonathan; Medina-Gomez, Carolina; Sterenborg, Rosalie B T M; Wang, Hao; Dolcetta-Capuzzo, Anna; de Rooij, Linda J; Teumer, Alexander; Abaci, Ayhan; van den Akker, Erica L T; Ambegaonkar, Gautam P; Armour, Christine M; Bacos, Iiuliu; Bakhtiani, Priyanka; Barca, Diana; Bauer, Andrew J; van den Berg, Sjoerd A A; van den Berge, Amanda; Bertini, Enrico; van Beynum, Ingrid M; Brunetti-Pierri, Nicola; Brunner, Doris; Cappa, Marco; Cappuccio, Gerarda; Castellotti, Barbara; Castiglioni, Claudia; Chatterjee, Krishna; Chesover, Alexander; Christian, Peter; Coenen-van der Spek, Jet; de Coo, Irenaeus F M; Coutant, Regis; Craiu, Dana; Crock, Patricia; DeGoede, Christian; Demir, Korcan; Dewey, Cheyenne; Dica, Alice; Dimitri, Paul; Dremmen, Marjolein H G; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; Garibaldi, Luigi; George, Belinda; Gevers, Evelien F; Greenup, Erin; Hackenberg, Annette; Halász, Zita; Heinrich, Bianka; Hurst, Anna C; Huynh, Tony; Isaza, Amber R; Klosowska, Anna; van der Knoop, Marieke M; Konrad, Daniel; Koolen, David A; Krude, Heiko; Kulkarni, Abhishek; Laemmle, Alexander; LaFranchi, Stephen H; Lawson-Yuen, Amy; Lebl, Jan; Leeuwenburgh, Selmar; Linder-Lucht, Michaela; López Martí, Anna; Lorea, Cláudia F; Lourenço, Charles M; Lunsing, Roelineke J; Lyons, Greta; Malikova, Jana Krenek; Mancilla, Edna E; McCormick, Kenneth L; McGowan, Anne; Mericq, Veronica; Lora, Felipe Monti; Moran, Carla; Muller, Katalin E; Nicol, Lindsey E; Oliver-Petit, Isabelle; Paone, Laura; Paul, Praveen G; Polak, Michel; Porta, Francesco; Poswar, Fabiano O; Reinauer, Christina; Rozenkova, Klara; Seckold, Rowen; Seven Menevse, Tuba; Simm, Peter; Simon, Anna; Singh, Yogen; Spada, Marco; Stals, Milou A M; Stegenga, Merel T; Stoupa, Athanasia; Subramanian, Gopinath M; Szeifert, Lilla; Tonduti, Davide; Turan, Serap; Vanderniet, Joel; van der Walt, Adri; Wémeau, Jean-Louis; van Wermeskerken, Anne-Marie; Wierzba, Jolanta; de Wit, Marie-Claire Y; Wolf, Nicole I; Wurm, Michael; Zibordi, Federica; Zung, Amnon; Zwaveling-Soonawala, Nitash; Rivadeneira, Fernando; Meima, Marcel E; Marks, Debora S; Nicola, Juan P; Chen, Chi-Hua; Medici, Marco; Visser, W Edward

Genetics of primary congenital hypothyroidism: three decades of discoveries and persisting etiological challenges

原发性先天性甲状腺功能减退症的遗传学:三十年来的发现与持续存在的病因学挑战

Stoupa, Athanasia; Carré, Aurore; Polak, Michel; Szinnai, Gabor; Schoenmakers, Nadia

Interaction Between Duddingtonia flagrans and Pochonia chlamydosporia for the Biological Control of Bovine Gastrointestinal Nematodes

杜丁顿氏线虫和厚垣孢子线虫的相互作用在牛胃肠道线虫生物防治中的应用

Vidal, Maria Larissa Bitencourt; Fonseca, Júlia Dos Santos; Vieira, Ítalo Stoupa; Altoé, Lorena Souza Castro; Carvalho, Lorendane Millena de; Rodrigues, Wagner Nunes; Martins, Isabella Vilhena Freire; Araújo, Jackson Victor de

EndoCompass Project: Research Roadmap for Thyroid Endocrinology

EndoCompass项目:甲状腺内分泌学研究路线图

Piekielko-Witkowska, Agnieszka; Elisei, Rossella; Léger, Juliane; Bendlova, Bela; Bulanová Pekova, Barbora; Caron, Philippe; Durante, Cosimo; Fassnacht, Martin; Feldt-Rasmussen, Ulla; Filipsson Nyström, Helena; Jansen, Heleen; Köhrle, Josef; Kus, Aleksander; Ludgate, Marian; Mertens, Jonathan; Oczko-Wojciechowska, Małgorzata; Peters, Catherine; Schoenmakers, Nadia; Stoupa, Athanasia; van Santen, Hanneke; Trimboli, Pierpaolo; van Trotsenburg, Paul; Visser, W Edward

Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency

SECISBP2 缺陷患者面临严重的神经发育表型、诊断和治疗挑战。

Stoupa, Athanasia; Franca, Monica Malheiros; Abdulhadi-Atwan, Maha; Fujisawa, Haruki; Korwutthikulrangsri, Manassawee; Marchand, Isis; Polak, Gabrielle; Beltrand, Jacques; Polak, Michel; Kariyawasam, Dulanjalee; Liao, Xiao-Hui; Raimondi, Chantalle; Steigerwald, Connolly; Abreu, Nicolas J; Bauer, Andrew J; Carré, Aurore; Taneja, Charit; Mekhoubad, Allison Bauman; Dumitrescu, Alexandra M

Efficacy of Desvenlafaxine in Reducing Migraine Frequency and Severity: A Retrospective Study

地文拉法辛降低偏头痛频率和严重程度的疗效:一项回顾性研究

Stoupa Hadidi, Marina; Rasheed, Murad; Bisharat, Yanal M; Al Helou, Heba H; El Aina, Hussam A; Batayneh, Hala M; Aljabali, Alaa A A; Gammoh, Omar

Βarriers and Gaps to Medical Care for Transgender Individuals: A TRANSCARE Scoping Review with a Focus on Greece

跨性别者医疗保健的障碍和差距:以希腊为重点的TRANSCARE范围界定综述

Anastasaki, Marilena; Angelaki, Agapi; Paganis, Philippos; Christidi, Elena Olga; Papathanasiou, Nancy; Stoupa, Eleni Panagiota; Karamagioli, Evika; Pikoulis, Emmanouil; Lionis, Christos

Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients with APS-1

鲁索替尼可挽救APS-1患者的多器官临床自身免疫症状

Lévy, Romain; Escudier, Agathe; Bastard, Paul; Briand, Coralie; Polivka, Laura; Stoupa, Athanasia; Talbotec, Cécile; Rothenbuhler, Anya; Charbit, Marina; Debray, Dominique; Bodemer, Christine; Casanova, Jean-Laurent; Linglart, Agnès; Neven, Bénédicte

Borealin/CDCA8 deficiency alters thyroid development and results in papillary tumor-like structures

Borealin/CDCA8 缺乏会改变甲状腺的发育并导致乳头状肿瘤样结构

Hortense Didier-Mathon, Athanasia Stoupa, Dulanjalee Kariyawasam, Sonny Yde, Beatrix Cochant-Priollet, Lionel Groussin, Frédéric Sébag, Nicolas Cagnard, Patrick Nitschke, Dominique Luton, Michel Polak, Aurore Carré