ArticleThe Journal of clinical endocrinology and metabolism2014
Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism.
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Article in The Journal of clinical endocrinology and metabolism, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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27citing papers in PubMed, 1 pooled it
6.0field-weighted citation impact, top 3% of its field
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 78 citations in OpenAlex.
- 2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action.European thyroid journal · 2024Guideline
- Identification of a novel mutation in the thyroid hormone receptor β gene that causes thyroid hormone resistance syndrome: A case report.Molecular medicine reports · 2019Trial
- Thyroid hormone resistance beta and autoimmune thyroid disease - a family case study highlighting diagnostic and therapeutic challenges.Cardiovascular diabetology. Endocrinology reports · 2026Article
- Identification of a novel THRB mutation causing thyroid hormone resistance syndrome.Archives of endocrinology and metabolism · 2026Article
- Thyroxine Treatment after Traumatic Brain Injury Suppresses Astrogliosis and Enhances Neuronal Recovery in Mice.Thyroid : official journal of the American Thyroid Association · 2025Article
- Challenging diagnosis of resistance to thyroid hormone in a patient with COVID-19, pituitary microadenoma and unusual response to octreotide long-acting release test.Endocrinology, diabetes & metabolism case reports · 2024Article
- A Case of Thyroid Hormone Resistance Syndrome with a Novel Mutation (c.947G>a) in theInternational medical case reports journal · 2024Article
- R243W Mutation in Thyroid Hormone Resistance Syndrome Beta: A Case Report.Journal of the ASEAN Federation of Endocrine Societies · 2024Article
- Thyroid Hormone Resistance Syndrome: From Molecular Mechanisms to Its Potential Contribution to Hypertension.Cureus · 2023Review
- The clinical characteristics and gene mutations associated with thyroid hormone resistance syndrome coexisting with pituitary tumors.Frontiers in endocrinology · 2023Review
- Inherited Disorders of Thyroid Hormone Metabolism Defect Caused by the Dysregulation of Selenoprotein Expression.Frontiers in endocrinology · 2021Review
- Resistance to Thyroid Hormone Beta: A Focused Review.Frontiers in endocrinology · 2021Review
- The Differential Diagnosis of Discrepant Thyroid Function Tests: Insistent Pitfalls and Updated Flow-Chart Based on a Long-Standing Experience.Frontiers in endocrinology · 2020Article
- Patients with mutations of the Thyroid hormone beta-receptor show an ADHD-like phenotype for performance monitoring: an electrophysiological study.NeuroImage. Clinical · 2020Article
- Resistance to thyroid hormone β in autoimmune thyroid disease: a case report and review of literature.BMC pregnancy and childbirth · 2018Review
- Diagnosis and treatment of TSH-secreting adenomas: review of a longtime experience in a reference center.Journal of endocrinological investigation · 2018Article
- Thyroid diseases and bone health.Journal of endocrinological investigation · 2018Review
- The Mutant Thyroid Hormone Receptor Beta R320P Causes Syndrome of Resistance to Thyroid Hormone.Case reports in endocrinology · 2018Article
- Regulation of T3 Availability in the Developing Brain: The Mouse Genetics Contribution.Frontiers in endocrinology · 2018Review
- Initial evaluation of thyroid dysfunction - Are simultaneous TSH and fT4 tests necessary?PloS one · 2018Article
Corrections and comments
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Authors and funding
16 authors at 12 institutions in 6 countries.
Samuel RefetoffDepartments of Medicine (S.R., A.M.D., R.E.W.), Pediatrics (S.R., R.E.W.), and Genetics (S.R.), The University of Chicago, Chicago, Illinois 60637; Department of Medicine (J.H.D.B., G.R.W.), Imperial College London, Hammersmith Campus, London W12 0NN, United Kingdom; Department of Clinical Sciences and Community Health (P.B.-P., L.P.), University of Milan, Fondazione Ca' Granda Policlinico (P.B.-P.), and Istituto Auxologico Italiano (L.P.), 20133 Milan, Italy; Instituto de Investigaciones Biomédicas (J.B.), Consejo Superior de Investigaciones Científicas-Universidad Autonoma de Madrid and Centro de Investigación Biomédica en Red de Enfermedades Raras, 28029 Madrid, Spain; Department of Medicine (G.B.), David Geffen School of Medicine, University of California at Los Angeles, California 90095; Wellcome-Medical Research Council Institute of Metabolic Science (K.C.), University of Cambridge, Cambridge CB2 0QQ, United Kingdom; Thyroidmanager and Endotext (L.J.D.G.), South Dartmouth, Massachusetts 02748; Raymond and Ruth Perelman School of Medicine (J.L.J.), University of Pennsylvania, Philadelphia, Pennsylvania 19104; Division of Endocrinology, Metabolism, and Molecular Medicine and Center for Genetic Medicine (P.A.K.), Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60611; Research Institute of Environmental Medicine (Y.M.), Nagoya University, Nagoya 466-8550, Japan; Ecole Normale Supérieure de Lyon (J.S.), 69342 Lyon, France; and Laboratory of Hormone Action, Singapore Institute of Clinical Sciences (P.M.Y.), Singapore 138669.
J H Duncan Bassett
Paolo Beck-Peccoz
Juan Bernal
Gregory Brent
Krishna Chatterjee
Leslie J De Groot
Alexandra M Dumitrescu
J Larry Jameson
Peter A Kopp
Yoshiharu Murata
Luca Persani
Jacques Samarut
Roy E Weiss
Graham R Williams
Paul M Yen
École Normale Supérieure de Lyon · FRFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico · ITHammersmith Hospital · GBImperial College London · GBIRCCS Istituto Auxologico Italiano · ITNagoya University · JPNorthwestern University · USUniversidad Autónoma de Madrid · ESUniversity of California, Los Angeles · USUniversity of Chicago · USUniversity of Pennsylvania · USWellcome/MRC Institute of Metabolic Science · GB
Funding
Re-Engineering Translational Research at the University of ChicagoUL1TR000430 · NCATS · UNIVERSITY OF CHICAGO · PI SOLWAY, JULIAN · 2012 to 2016
$20.2MZOLEDRONATE &OSTEOPOROTIC EFFECTS OF ANDROGEN DEPRIVATIM01RR000055 · NCRR · UNIVERSITY OF CHICAGO · PI DE WIT, HARRIET · 1985 to 2007
$19.0MTHYROID PHYSIOLOGY STUDIES OF INHERITED DISORDERSR37DK015070 · NIDDK · UNIVERSITY OF CHICAGO · PI REFETOFF, SAMUEL · 1989 to 2015
$5.6MThyroid Hormone Receptor Isoform-Specific ActionsR01DK098576 · NIDDK · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BRENT, GREGORY A · 2014 to 2017
$1.3MThyroid Hormone and Retinoic Acid Regulation of Gene ExpressionI01BX001966 · VA · VA GREATER LOS ANGELES HEALTHCARE SYSTEM · PI BRENT, GREGORY A · 2014 to 2025
–Biotechnology and Biological Sciences Research Council BB/F021704/1BLRD VA I01 BX001966Medical Research Council G0501486NCATS NIH HHS UL1 TR000430NCATS NIH HHS UL1TR000430NCRR NIH HHS M01 RR000055NIDDK NIH HHS R01 DK098576NIDDK NIH HHS R37 DK015070NIDDK NIH HHS R37DK15070Wellcome Trust 095564
Abstract
PubMed holds no abstract for this paper.
Indexed as
Terminology as TopicBiological TransportHumansThyroid Hormone Resistance SyndromeThyroid HormonesThyroid Hormones
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.