Associated Papers
Identification of a novel THRB mutation causing thyroid hormone resistance syndrome.
Yang J et al.
Archives of Endocrinology and Metabolism, 2026
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14
A rare mutation of thyroid hormone receptor beta gene in thyroid hormone resistance syndrome.
Del Prete M et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2021
Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).
Concolino P et al.
Molecular Diagnosis & Therapy, 2019
BRAFV600E mutation contributes papillary thyroid carcinoma and Hashimoto thyroiditis with resistance to thyroid hormone: A case report and literature review.
Xing W et al.
Oncology Letters, 2017
Differentiated thyroid cancer in patients with resistance to thyroid hormone syndrome. A novel case and a review of the literature.
Vinagre J et al.
Frontiers in Molecular Biosciences, 2014
A case of resistance to thyroid hormone with thyroid cancer.
Kim HK et al.
Journal of Korean Medical Science, 2010
Resistance to thyroid hormone is associated with raised energy expenditure, muscle mitochondrial uncoupling, and hyperphagia.
Mitchell CS et al.
The Journal of Clinical Investigation, 2010
A novel point mutation of thyroid hormone receptor beta gene in a family with resistance to thyroid hormone.
Nagashima T et al.
Thyroid : Official Journal of the American Thyroid Association, 1997
Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone. First workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, U.K.
Beck-Peccoz P et al.
Journal of Endocrinological Investigation, 1994
Nomenclature of thyroid hormone receptor-beta gene mutations in resistance to thyroid hormone: consensus statement from the First Workshop on Thyroid Hormone Resistance, 10-11th July 1993, Cambridge, UK.
Beck-Peccoz P et al.
European Journal of Endocrinology, 1994
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