Associated Papers
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
Thyroid hormone resistance from newborns to adults: a Spanish experience.
Vela A et al.
Journal of Endocrinological Investigation, 2019
Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).
Concolino P et al.
Molecular Diagnosis & Therapy, 2019
Variable Clinical Characteristics and Molecular Spectrum of Patients with Syndromes of Reduced Sensitivity to Thyroid Hormone: Genetic Defects in the THRB and SLC16A2 Genes.
Choi JH et al.
Hormone Research in Paediatrics, 2018
Thyroid hormone resistance due to a novel THRß mutation.
Ho CW et al.
Annals of the Academy of Medicine, Singapore, 2014
Long-term 3,5,3'-triiodothyroacetic acid therapy in a child with hyperthyroidism caused by thyroid hormone resistance: pharmacological study and therapeutic recommendations.
Anzai R et al.
Thyroid : Official Journal of the American Thyroid Association, 2012
Germline and somatic thyroid hormone receptor mutations in man.
Yen PM et al.
Journal of Endocrinological Investigation, 2003
Somatic mutation of TRbeta can cause a defect in negative regulation of TSH in a TSH-secreting pituitary tumor.
Ando S et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
Three novel mutations at serine 314 in the thyroid hormone beta receptor differentially impair ligand binding in the syndrome of resistance to thyroid hormone.
Gurnell M et al.
Endocrinology, 1999
Amino acid substitutions of thyroid hormone receptor-beta at codon 435 with resistance to thyroid hormone selectively alter homodimer formation.
Nomura Y et al.
Endocrinology, 1996
Three novel mutations of thyroid hormone receptor beta gene in unrelated patients with resistance to thyroid hormone: two mutations of the same codon (H435L and H435Q) produce separate subtypes of resistance.
Tsukaguchi H et al.
The Journal of Clinical Endocrinology and Metabolism, 1995
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