THRB , GLU457LYS ) treated with methimazole (original ) (raw )A rare mutation of thyroid hormone receptor beta gene in thyroid hormone resistance syndrome
Federico Vignati
Endocrinology, Diabetes & Metabolism Case Reports
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A case of thyroid hormone resistance: a rare mutation
Ana paula Barbosa
Arquivos brasileiros de endocrinologia e metabologia, 2014
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Thyroid hormone resistance: a novel mutation in thyroid hormone receptor beta (THRB) gene - case report
Emregül Işık
The Turkish journal of pediatrics
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Resistance to Thyroid Hormones: A Case-Series Study
Marco Musmeci
International Journal of Molecular Sciences
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Resistance to Thyroid Hormone Beta: A Focused Review
Samuel Refetoff
Frontiers in Endocrinology, 2021
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Resistance to thyroid hormone mediated by defective thyroid hormone receptor alpha
Theo Visser
Biochimica et Biophysica Acta (BBA) - General Subjects, 2013
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Thyroid Hormone Resistance due to a Novel De Novo Mutation in Thyroid Hormone Receptor Alpha: First Case Report from the Middle East and North Africa
Saif Al Yaarubi
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A novel thyroid hormone receptor alpha gene mutation, clinic characteristics, and follow-up findings in a patient with thyroid hormone resistance
Özlem KORKMAZ
Hormones, 2019
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Mosaicism of a Thyroid Hormone Receptor-β Gene Mutation in Resistance to Thyroid Hormone
Samuel Refetoff
The Journal of Clinical Endocrinology & Metabolism, 2006
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Association Between an R338L Mutation in the Thyroid Hormone Receptor-β Gene and Thyrotoxic Features in Two Unrelated Kindreds with Resistance to Thyroid Hormone
Claudia Menzaghi
Thyroid, 1999
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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
Erik Schoenmakers
The Lancet Diabetes & Endocrinology, 2014
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Homozygous Thyroid Hormone Receptor β-Gene Mutations in Resistance to Thyroid Hormone: Three New Cases and Review of the Literature
Samuel Refetoff
The Journal of Clinical Endocrinology & Metabolism, 2012
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Spectrum of thyroid hormone resistance
Satinath Mukhopadhyay
Thyroid Research and Practice, 2012
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Thyroid hormone resistance syndrome caused by heterozygous A317T mutation in thyroid hormone receptor β gene: Report of one Chinese pedigree and review of the literature
imen rezgani
Medicine, 2016
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Thyroid Hormone Receptor Beta Gene Mutation (P453A) in a Family Producing Resistance to Thyroid Hormone
Samuel Refetoff
Experimental and Clinical Endocrinology & Diabetes, 2008
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Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta
Samuel Refetoff
Proceedings of the National Academy of Sciences, 1989
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Resistance to thyroid hormone in a Turkish child with A317T mutation in the thyroid hormone receptor-beta gene
Feyza Darendeliler
The Turkish journal of pediatrics
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Clinical Consequences of Variable Results in the Measurement of Free Thyroid Hormones: Unusual Presentation of a Family with a Novel Variant in the THRB Gene Causing Resistance to Thyroid Hormone Syndrome
Tiziana Filippis
European Thyroid Journal, 2021
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Resistance to thyroid hormone--an incidental finding
CARLA MARIA MONZON MORAN
BMJ case reports, 2012
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Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation
Samuel Refetoff
Journal of Clinical Investigation, 1991
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Severe form of thyroid hormone resistance in a patient with homozygous/hemizygous mutation of T3 receptor gene
Friedhelm Raue
European Journal of Endocrinology, 2004
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Resistance to thyroid hormone due to defective thyroid receptor alpha
Carla Moran
Best Practice & Research Clinical Endocrinology & Metabolism, 2015
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Thyroid hormone resistance
Amit Rastogi
Postgraduate Medical Journal, 2008
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An Adult Female With Resistance to Thyroid Hormone Mediated by Defective Thyroid Hormone Receptor α
Carla Moran
The Journal of Clinical Endocrinology & Metabolism, 2013
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A case of resistance to thyroid hormone with thyroid cancer
Dôi Kim
Journal of Korean medical science, 2010
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Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene
Trevor Collingwood
Journal of Clinical Investigation, 1994
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Nomenclature of Thyroid Hormone Receptor β Mutations in Resistance to Thyroid Hormone: Consensus Statement from the First Workshop on Thyroid Hormone Resistance, July 10–11th 1993, Cambridge, U.K
Stephen Usala
Thyroid, 1994
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