检索结果 - Greta Lyons
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<i>DUOX2</i>/<i>DUOXA2</i> Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom 由 Catherine Peters, Adeline K. Nicholas, Erik Schoenmakers, Greta Lyons, Shirley Langham, Eva Serra, Neil J. Sebire, Marina Muzza, Laura Fugazzola, Nadia Schoenmakers
出版 2019Artigo -
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Alemtuzumab-Induced Thyroid Dysfunction Exhibits Distinctive Clinical and Immunological Features 由 Nadia Pariani, Mark Willis, Ilaria Muller, Sarah Healy, Taha Nasser, Anne McGowan, Greta Lyons, Joanne L. Jones, Krishna Chatterjee, Colin Dayan, Neil P. Robertson, Alasdair Coles, Carla Moran
出版 2018Artigo -
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Contrasting Phenotypes in Resistance to Thyroid Hormone Alpha Correlate with Divergent Properties of Thyroid Hormone Receptor α1 Mutant Proteins 由 Carla Moran, Maura Agostini, Anne McGowan, Erik Schoenmakers, Louise Fairall, Greta Lyons, Odelia Rajanayagam, Laura Watson, Amaka C Offiah, John Barton, Susan Price, John W. R. Schwabe, Krishna Chatterjee
出版 2017Artigo -
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Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients 由 Carla Moran, Maura Agostini, W. Edward Visser, Erik Schoenmakers, Nadia Schoenmakers, Amaka C Offiah, Ken Poole, Odelia Rajanayagam, Greta Lyons, David Halsall, Mark Gurnell, Dionisios Chrysis, Alexandra Efthymiadou, Charles Buchanan, Simon Aylwin, Krishna Chatterjee
出版 2014Artigo -
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Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis 由 Erik Schoenmakers, Bradley A. Carlson, Maura Agostini, Carla Moran, Odelia Rajanayagam, Elena G. Bochukova, Ryuta Tobe, Rachel A. Peat, Evelien Gevers, Francesco Muntoni, Pascale Guicheney, Nadia Schoenmakers, I. Sadaf Farooqi, Greta Lyons, Dolph L. Hatfield, Krishna Chatterjee
出版 2016Artigo -
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An Adult Female With Resistance to Thyroid Hormone Mediated by Defective Thyroid Hormone Receptor α 由 Carla Moran, Nadia Schoenmakers, Maura Agostini, Erik Schoenmakers, Amaka C Offiah, A. Kydd, G. Kahaly, Susan Mohr-Kahaly, Odelia Rajanayagam, Greta Lyons, Nicholas J. Wareham, David Halsall, Mehul Dattani, Stephen G. Hughes, Mark Gurnell, Soo‐Mi Park, Krishna Chatterjee
出版 2013Artigo -
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Resistance to thyroid hormone induced tachycardia in RTHα syndrome 由 Riccardo Dore, Laura Watson, Stefanie Hollidge, Christin Krause, Sarah Christine Sentis, Rebecca Oelkrug, Cathleen Geißler, Kornelia Johann, Mehdi Pedaran, Greta Lyons, Nuria López‐Alcántara, Julia Resch, Friedhelm Sayk, K. Alexander Iwen, André Franke, Teide Jens Boysen, Jeffrey W. Dalley, Kristina Lorenz, Carla Moran, Kirsten L. Rennie, Anders Arner, Henriette Kirchner, Krishna Chatterjee, Jens Mittag
出版 2023Artigo -
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Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ 由 Adeline K. Nicholas, Eva Serra, Hakan Cangül, Saif Al-Yaarubi, Irfan Ullah, Erik Schoenmakers, Asma Deeb, Abdelhadi Habeb, Mohammad S. Al-Maghamsi, Catherine Peters, Nisha Nathwani, Zehra Aycan, Halil Sağlam, Ece Böber, Mehul Dattani, Savitha Shenoy, Philip Murray, Amir Babiker, Ruben H. Willemsen, Ajay Thankamony, Greta Lyons, Rachael Irwin, Raja Padidela, Kavitha Tharian, Justin H. Davies, Vijith Puthi, Soo‐Mi Park, Ahmed F. Massoud, John W Gregory, Assunta Albanese, Evelien Pease-Gevers, Howard Martin, Kim Brügger, Eamonn R. Maher, Krishna Chatterjee, Carl A. Anderson, Nadia Schoenmakers
出版 2016Artigo -
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Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial 由 Stefan Groeneweg, Robin P. Peeters, Carla Moran, Athanasia Stoupa, Françoise Auriol, Davide Tonduti, Alice Dica, Laura Paone, Klára Roženková, Jana Malíková, Adri van der Walt, I.F.M. de Coo, Anne McGowan, Greta Lyons, Femke K. Aarsen, Diana Bârcă, Ingrid M. van Beynum, Marieke M van der Knoop, Jurgen Jansen, Martien Manshande, Roelineke J. Lunsing, S Nowak, Corstiaan A. den Uil, M. Carola Zillikens, Frank E. Visser, P Vrijmoeth, Marie‐Claire Y. de Wit, Nicole I. Wolf, Angelique Zandstra, Gautam Ambegaonkar, Yogen Singh, Yolanda B. de Rijke, Marco Medici, Enrico Bertini, Sylvia Depoorter, Jan Lebl, Marco Cappa, Linda De Meırleır, Heiko Krude, Dana Craiu, Federica Zibordi, Isabelle Petit, Michel Polak, Krishna Chatterjee, Theo J. Visser, W. Edward Visser
出版 2019Artigo -
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Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study 由 Ferdy S. van Geest, Stefan Groeneweg, Erica L.T. van den Akker, I. Bacos, Diana Bârcă, Sjoerd A.A. van den Berg, Enrico Bertini, Doris Brunner, Nicola Brunetti‐Pierri, Marco Cappa, Gerarda Cappuccio, Krishna Chatterjee, Alexander Chesover, Peter Christian, Régis Coutant, Dana Craiu, Patricia Crock, Cheyenne Dewey, Alice Dica, Paul Dimitri, Rachana Dubey, Anina Enderli, Jan Fairchild, Jonathan Gallichan, Luigi Garibaldi, Belinda George, Annette Hackenberg, Bianka Heinrich, Tony Huynh, Anna Kłosowska, Amy Lawson‐Yuen, M Linder-Lucht, Greta Lyons, Felipe Monti Lora, Carla Moran, Katalin Eszter Müller, Laura Paone, Praveen George Paul, Michel Polak, Francesco Porta, Christina Reinauer, Yolanda B. de Rijke, Rowen Seckold, tuba seven menevse, Peter Simm, Anna Simon, Marco Spada, Athanasia Stoupa, Lilla Szeifert, Davide Tonduti, Hans van Toor, Serap Turan, Joel A. Vanderniet, Monique de Waart, Ronald van der Wal, Adri van der Walt, Anne-Marie van Wermeskerken, Jolanta Wierzba, Federica Zibordi, Amnon Zung, Robin P. Peeters, W. Edward Visser
出版 2021Artigo -
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Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study 由 Stefan Groeneweg, Ferdy S. van Geest, Ayhan Abacı, Alberto Alcantud, Gautam Ambegaonkar, Christine M. Armour, Priyanka Bakhtiani, Diana Bârcă, Enrico Bertini, Ingrid M. van Beynum, Nicola Brunetti‐Pierri, Marianna Bugiani, Marco Cappa, Gerarda Cappuccio, Barbara Castellotti, Claudia Castiglioni, Krishna Chatterjee, I.F.M. de Coo, Régis Coutant, Dana Craiu, Patricia Crock, Christian DeGoede, Korcan Demir, Alice Dica, Paul Dimitri, Anna Dolcetta‐Capuzzo, Marjolein H. G. Dremmen, Rachana Dubey, Anina Enderli, Jan Fairchild, Jonathan Gallichan, Belinda George, Evelien Gevers, Annette Hackenberg, Zita Halász, Bianka Heinrich, Tony Huynh, Anna Kłosowska, Marjo S. van der Knaap, Marieke M van der Knoop, Daniel Konrad, David A. Koolen, Heiko Krude, Amy Lawson‐Yuen, Jan Lebl, M Linder-Lucht, Cláudia Fernandes Lorea, Charles Marques Lourenço, Roelineke J. Lunsing, Greta Lyons, Jana Malíková, Edna E. Mancilla, Anne McGowan, Verónica Mericq, Felipe Monti Lora, Carla Moran, Katalin Eszter Müller, Isabelle Oliver‐Petit, Laura Paone, Praveen George Paul, Michel Polak, Francesco Porta, Fabiano O. Poswar, Christina Reinauer, Klára Roženková, tuba seven menevse, Peter Simm, Anna Simon, Yogen Singh, Marco Spada, Jet van der Spek, Milou A.M. Stals, Athanasia Stoupa, Gopinath M. Subramanian, Davide Tonduti, Serap Turan, Corstiaan A. den Uil, Joel A. Vanderniet, Adri van der Walt, Jean‐Louis Wémeau, Jolante Wierzba, Marie‐Claire Y. de Wit, Nicole I. Wolf, Michael Wurm, Federica Zibordi, Amnon Zung, Nitash Zwaveling‐Soonawala, W. Edward Visser
出版 2020Artigo -
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Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration 由 Stefan Groeneweg, Ferdy S. van Geest, Mariano Martín, Mafalda Dias, Jonathan Frazer, Carolina Medina‐Gómez, Rosalie Sterenborg, Hao Wang, Anna Dolcetta‐Capuzzo, Linda J. de Rooij, Alexander Teumer, Ayhan Abacı, Erica L T van den Akker, Gautam Ambegaonkar, Christine M. Armour, I. Bacos, Priyanka Bakhtiani, Diana Bârcă, Andrew J. Bauer, Sjoerd A.A. van den Berg, Amanda van den Berge, Enrico Bertini, Ingrid M. van Beynum, Nicola Brunetti‐Pierri, Doris Brunner, Marco Cappa, Gerarda Cappuccio, Barbara Castellotti, Claudia Castiglioni, Krishna Chatterjee, Alexander Chesover, Peter Christian, Jet van der Spek, I.F.M. de Coo, R. Coutant, Dana Craiu, Patricia Crock, Christian de Goede, Korcan Demir, Cheyenne Dewey, Alice Dica, Paul Dimitri, Marjolein H. G. Dremmen, Rachana Dubey, Anina Enderli, Jan Fairchild, Jonathan Gallichan, Luigi Garibaldi, Belinda George, Evelien Gevers, Erin Greenup, Annette Hackenberg, Zita Halász, Bianka Heinrich, Anna Hurst, Tony Huynh, Amber Isaza, Anna Kłosowska, Marieke M van der Knoop, Daniel Konrad, David A. Koolen, Heiko Krude, Abhishek Kulkarni, Alexander Laemmle, Stephen LaFranchi, Amy Lawson‐Yuen, Jan Lebl, Selmar Leeuwenburgh, M Linder-Lucht, Amelia Martí, Cláudia Fernandes Lorea, Charles Marques Lourenço, Roelineke J. Lunsing, Greta Lyons, Jana Malíková, Edna E. Mancilla, Kenneth McCormick, Anne McGowan, Verónica Mericq, Felipe Monti Lora, Carla Moran, Katalin Eszter Müller, Lindsey Nicol, Isabelle Oliver‐Petit, Laura Paone, Praveen George Paul, Michel Polak, Francesco Porta, Fabiano de Oliveira Poswar, Christina Reinauer, Klára Roženková, Rowen Seckold, tuba seven menevse, Peter Simm, Anna Simon, Yogen Singh, Marco Spada, Milou A.M. Stals, Merel T Stegenga, Athanasia Stoupa
出版 2025Artigo
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