Yingxin Fang
Yingxin Fang
Department of Endocrinology and Metabolism, Institute of Endocrine, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University, Shenyang, People’s Republic of China
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Pingping Dang
Pingping Dang
Department of Endocrinology and Metabolism, Institute of Endocrine, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University, Shenyang, People’s Republic of China
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Yue Liang
Yue Liang
Department of Endocrinology and Metabolism, Institute of Endocrine, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University, Shenyang, People’s Republic of China
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Defa Zhao
Defa Zhao
Department of Endocrinology and Metabolism, Institute of Endocrine, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University, Shenyang, People’s Republic of China
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Ranran Wang
Ranran Wang
Department of Endocrinology and Metabolism, Institute of Endocrine, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University, Shenyang, People’s Republic of China
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Yue Xi
Yue Xi
Department of Endocrinology and Metabolism, Institute of Endocrine, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University, Shenyang, People’s Republic of China
Department of Endocrinology and Metabolism, The Third Affiliated Hospital of Jinzhou Medical University, Jinzhou, People’s Republic of China
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Department of Endocrinology and Metabolism, The Third Affiliated Hospital of Jinzhou Medical University, Jinzhou, People’s Republic of China
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Dan Zhang
Dan Zhang
Department of Endocrinology and Metabolism, Institute of Endocrine, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University, Shenyang, People’s Republic of China
Department of Endocrinology and Metabolism, The Third Affiliated Hospital of Jinzhou Medical University, Jinzhou, People’s Republic of China
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Department of Endocrinology and Metabolism, The Third Affiliated Hospital of Jinzhou Medical University, Jinzhou, People’s Republic of China
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Wei Wang
Wei Wang
Department of Endocrinology and Metabolism, Institute of Endocrine, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University, Shenyang, People’s Republic of China
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Zhongyan Shan
Zhongyan Shan
Department of Endocrinology and Metabolism, Institute of Endocrine, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University, Shenyang, People’s Republic of China
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Weiping Teng
Weiping Teng
Department of Endocrinology and Metabolism, Institute of Endocrine, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University, Shenyang, People’s Republic of China
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Xiaochun Teng
Xiaochun Teng
Department of Endocrinology and Metabolism, Institute of Endocrine, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University, Shenyang, People’s Republic of China
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de Rijke YB Visser WE Visser TJ Peeters RP . Clinical phenotype of a new type of thyroid hormone resistance caused by a mutation of the TRα1 receptor: consequences of LT4 treatment . Journal of Clinical Endocrinology and Metabolism 2013 98
Roel Docter
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Georg Hennemann
Georg Hennemann
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W. Edward Visser
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in the field, but also for the lives of families caring for an MCT8-deficient child, is difficult to overestimate. In recent years, he was also among the first to identify patients with thyroid hormone resistance caused by a mutation of the TRα1
Samuel Refetoff
Samuel Refetoff
Departments of Medicine, The University of Chicago, Chicago, Ill., USA
Departments of Pediatrics, The University of Chicago, Chicago, Ill., USA
Genetics, The University of Chicago, Chicago, Ill., USA
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Departments of Pediatrics, The University of Chicago, Chicago, Ill., USA
Genetics, The University of Chicago, Chicago, Ill., USA
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J.H. Duncan Bassett
J.H. Duncan Bassett
Department of Medicine, Imperial College London, London, UK
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Paolo Beck-Peccoz
Paolo Beck-Peccoz
Department of Clinical Sciences and Community Health, University of Milan
Fondazione Ca' Granda Policlinico, Milan, Italy
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Fondazione Ca' Granda Policlinico, Milan, Italy
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Juan Bernal
Juan Bernal
Instituto de Investigaciones Biomédicas, Consejo Superior de Investigaciones Científicas-Universidad Autonoma de Madrid and Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain
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Gregory Brent
Gregory Brent
Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, Calif., USA
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Krishna Chatterjee
Krishna Chatterjee
Wellcome-Medical Research Council Institute of Metabolic Science, University of Cambridge, Cambridge, UK
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Leslie J. De Groot
Leslie J. De Groot
Thyroidmanager and Endotext, South Dartmouth, Mass
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Alexandra M. Dumitrescu
Alexandra M. Dumitrescu
Departments of Medicine, The University of Chicago, Chicago, Ill., USA
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J. Larry Jameson
J. Larry Jameson
Raymond and Ruth Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pa
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Peter A. Kopp
Peter A. Kopp
Division of Endocrinology, Metabolism, and Molecular Medicine and Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Ill., USA
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Yoshiharu Murata
Yoshiharu Murata
Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan
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Luca Persani
Luca Persani
Department of Clinical Sciences and Community Health, University of Milan
Istituto Auxologico Italiano, Milan, Italy
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Istituto Auxologico Italiano, Milan, Italy
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Jacques Samarut
Jacques Samarut
Ecole Normale Supérieure de Lyon, Lyon, France
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Roy E. Weiss
Roy E. Weiss
Departments of Medicine, The University of Chicago, Chicago, Ill., USA
Departments of Pediatrics, The University of Chicago, Chicago, Ill., USA
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Departments of Pediatrics, The University of Chicago, Chicago, Ill., USA
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Graham R. Williams
Graham R. Williams
Department of Medicine, Imperial College London, London, UK
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Paul M. Yen
Paul M. Yen
Laboratory of Hormone Action, Singapore Institute of Clinical Sciences, Singapore, Singapore
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: A base mutation of the c-erbA β thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds. J Clin Invest 1990;85:93-100. 10.1172/JCI114438 2153155 4 Weinberger C, Thompson
Yasmine Abdellaoui
Yasmine Abdellaoui
Department of Internal Medicine, Foch Hospital, Suresnes, France
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Dimitra Magkou
Dimitra Magkou
Department of Endocrinology and Nutrition, Ambroise Paré Universitary Hospital, Assistance Publique Hôpitaux de Paris, Boulogne, France
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Sofia Bakopoulou
Sofia Bakopoulou
Department of Endocrinology and Nutrition, Ambroise Paré Universitary Hospital, Assistance Publique Hôpitaux de Paris, Boulogne, France
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Ramona Zaharia
Ramona Zaharia
Department of Endocrinology and Nutrition, Ambroise Paré Universitary Hospital, Assistance Publique Hôpitaux de Paris, Boulogne, France
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Marie-Laure Raffin-Sanson
Marie-Laure Raffin-Sanson
Department of Endocrinology and Nutrition, Ambroise Paré Universitary Hospital, Assistance Publique Hôpitaux de Paris, Boulogne, France
EA 4340, Université Versailles Saint Quentin en Yvelines, UFR Simone Veil Santé, Montigny le Bretonneux, France
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EA 4340, Université Versailles Saint Quentin en Yvelines, UFR Simone Veil Santé, Montigny le Bretonneux, France
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Laure Cazabat
Laure Cazabat
Department of Endocrinology and Nutrition, Ambroise Paré Universitary Hospital, Assistance Publique Hôpitaux de Paris, Boulogne, France
EA 4340, Université Versailles Saint Quentin en Yvelines, UFR Simone Veil Santé, Montigny le Bretonneux, France
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EA 4340, Université Versailles Saint Quentin en Yvelines, UFR Simone Veil Santé, Montigny le Bretonneux, France
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values are in bold. Symbols filled in black on the left indicate subjects with thyroid hormone resistance beta. Symbols filled in white on the left indicate subjects with no thyroid hormone resistance. Symbols hatched on the right indicate subjects with
Luca Persani
Luca Persani
Department of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milano, Italy
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milano, Italy
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Department of Medical Biotechnology and Translational Medicine, University of Milan, Milano, Italy
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Patrice Rodien
Patrice Rodien
Service d’Endocrinologie-Diabétologie-Nutrition, Centre de référence des maladies rares de la Thyroïde et des récepteurs hormonaux, CHU d’Angers, Angers, France.
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Carla Moran
Carla Moran
Institute of Metabolic Science, University of Cambridge, Cambridge, UK
Endocrine Section, Beacon Hospital, Dublin, Ireland.
School of Medicine, University College Dublin, Ireland
Endocrinology Department, St Vincent’s University Hospital, Dublin, Ireland
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Endocrine Section, Beacon Hospital, Dublin, Ireland.
School of Medicine, University College Dublin, Ireland
Endocrinology Department, St Vincent’s University Hospital, Dublin, Ireland
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W Edward Visser
W Edward Visser
Department of Internal Medicine and Rotterdam Thyroid Center, Erasmus University Medical Center, Rotterdam, The Netherlands
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Stefan Groeneweg
Stefan Groeneweg
Department of Internal Medicine and Rotterdam Thyroid Center, Erasmus University Medical Center, Rotterdam, The Netherlands
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Robin Peeters
Robin Peeters
Department of Internal Medicine and Rotterdam Thyroid Center, Erasmus University Medical Center, Rotterdam, The Netherlands
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Samuel Refetoff
Samuel Refetoff
Departments of Medicine and Paediatrics and Committee on Genetics, The University of Chicago, Chicago, Illinois, USA
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Mark Gurnell
Mark Gurnell
Institute of Metabolic Science, University of Cambridge, Cambridge, UK
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Paolo Beck-Peccoz
Paolo Beck-Peccoz
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milano, Italy
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Krishna Chatterjee
Krishna Chatterjee
Institute of Metabolic Science, University of Cambridge, Cambridge, UK
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beta (RTHβ) (OMIM 188570: Thyroid hormone resistance, generalized; OMIM 145650: Thyroid hormone resistance, pituitary; ORPHA: 566243) is a combination of genuinely raised (total and free) thyroid hormones (T4, T3), with non-suppressed TSH ( 11 , 12
Véronique Raverot
Véronique Raverot
Hospices Civils de Lyon, Groupement Hospitalier Est, LBMMS, Centre de biologie et de pathologie Est, Lyon, France
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Stéphanie Metrat
Stéphanie Metrat
Hospices Civils de Lyon, Groupement Hospitalier Est, LBMMS, Centre de biologie et de pathologie Est, Lyon, France
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Pauline Perrin
Pauline Perrin
Hospices Civils de Lyon, Groupement Hospitalier Est, LBMMS, Centre de biologie et de pathologie Est, Lyon, France
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Juliette Abeillon
Juliette Abeillon
Hospices Civils de Lyon, Groupement Hospitalier Est, Fédération d’Endocrinologie, Lyon, France
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Hélène Lasolle
Hélène Lasolle
Hospices Civils de Lyon, Groupement Hospitalier Est, Fédération d’Endocrinologie, Lyon, France
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pituitary MRI were performed and formally excluded thyroid hormone resistance or TSH-secreting pituitary adenoma. The patient was then followed up without any treatment. Two years later, she became pregnant, and levothyroxine was promptly reintroduced at 25
Giorgio Radetti
Giorgio Radetti
Marienklinik, Bolzano, Italy
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Franco Rigon
Franco Rigon
Department of Paediatrics, University of Padua, Padua, Italy
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Alessandro Salvatoni
Alessandro Salvatoni
Department of Medicine and Surgery, University of Insubria, Varese, Italy
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Irene Campi
Irene Campi
Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, IRCCS, Milan, Italy
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Tiziana De Filippis
Tiziana De Filippis
Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, IRCCS, Milan, Italy
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Valentina Cirello
Valentina Cirello
Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, IRCCS, Milan, Italy
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Silvia Longhi
Silvia Longhi
Department of Paediatrics, Regional Hospital of Bolzano, Bolzano, Italy
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Fabiana Guizzardi
Fabiana Guizzardi
Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, IRCCS, Milan, Italy
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Marco Bonomi
Marco Bonomi
Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, IRCCS, Milan, Italy
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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Luca Persani
Luca Persani
Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, IRCCS, Milan, Italy
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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. The different requirement of L-T4 therapy in congenital athyreosis compared with adult-acquired hypothyroidism suggests a persisting thyroid hormone resistance at the hypothalamic-pituitary level . European Journal of Endocrinology 2014 171 615 – 621
Caiyan Mo
Caiyan Mo
Department of Endocrinology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China
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Han Chen
Han Chen
Department of Endocrinology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China
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Qi Zhang
Qi Zhang
Department of Endocrinology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China
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Ying Guo
Ying Guo
Department of Endocrinology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China
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Liyong Zhong
Liyong Zhong
Department of Endocrinology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China
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Irene Campi
Irene Campi
Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, Istituto Di Ricovero e Cura a Carattere Scientifico (IRCCS), Milan, Italy
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Maura Agostini
Maura Agostini
Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom
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Federica Marelli
Federica Marelli
Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, Istituto Di Ricovero e Cura a Carattere Scientifico (IRCCS), Milan, Italy
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Tiziana de Filippis
Tiziana de Filippis
Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, Istituto Di Ricovero e Cura a Carattere Scientifico (IRCCS), Milan, Italy
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Beatriz Romartinez-Alonso
Beatriz Romartinez-Alonso
Department of Molecular and Cell Biology, Leicester Institute of Structural and Chemical Biology, University of Leicester, Leicester, United Kingdom
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Odelia Rajanayagam
Odelia Rajanayagam
Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom
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Giuditta Rurale
Giuditta Rurale
Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, Istituto Di Ricovero e Cura a Carattere Scientifico (IRCCS), Milan, Italy
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Ilaria Gentile
Ilaria Gentile
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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Federica Spagnolo
Federica Spagnolo
Unit of Endocrinology, University Hospital “G. Martino”, Messina, Italy
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Massimiliano Andreasi
Massimiliano Andreasi
Laboratorio Analisi Cliniche, Centro di Ricerche e Tecnologie Biomediche, IRCCS Istituto Auxologico Italiano, Cusano Milanino, Italy
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Francesco Ferraù
Francesco Ferraù
Unit of Endocrinology, University Hospital “G. Martino”, Messina, Italy
Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy
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Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy
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Salvatore Cannavò
Salvatore Cannavò
Unit of Endocrinology, University Hospital “G. Martino”, Messina, Italy
Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy
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Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy
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Laura Fugazzola
Laura Fugazzola
Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, Istituto Di Ricovero e Cura a Carattere Scientifico (IRCCS), Milan, Italy
Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy
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Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy
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Krishna V. Chatterjee
Krishna V. Chatterjee
Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom
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Luca Persani
Luca Persani
Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, Istituto Di Ricovero e Cura a Carattere Scientifico (IRCCS), Milan, Italy
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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be highly variable even in RTHβ patients belonging to the same family, with some cases that can be disclosed by the failure to suppress TSH during levothyroxine treatment for nodular goiter. Introduction Thyroid hormone resistance
Alies A. van Mullem
Alies A. van Mullem
Department of Internal Medicine, Erasmus University Medical Centre, Rotterdam, The Netherlands
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Theo J. Visser
Theo J. Visser
Department of Internal Medicine, Erasmus University Medical Centre, Rotterdam, The Netherlands
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Robin P. Peeters
Robin P. Peeters
Department of Internal Medicine, Erasmus University Medical Centre, Rotterdam, The Netherlands
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mutations and disease: beyond thyroid hormone resistance. Trends Endocrinol Metab 2005;16:176-182. 10.1016/j.tem.2005.03.008 15860414 7 Abel ED, Boers ME, Pazos-Moura C, et al: Divergent roles for thyroid hormone receptor beta isoforms in the
