Associated Papers
Clinical and Genetic Characteristics of Adult Nonautoimmune Hypothyroidism: A Single-institution Study.
Sugisawa C et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Adult Thyroid Outcomes of Congenital Hypothyroidism.
Sugisawa C et al.
Thyroid : Official Journal of the American Thyroid Association, 2023
Screening of 23 candidate genes by next-generation sequencing of patients with permanent congenital hypothyroidism: novel variants in TG, TSHR, DUOX2, FOXE1, and SLC26A7.
Acar S et al.
Journal of Endocrinological Investigation, 2022
Inactivation of a Frameshift TSH Receptor Variant Val711Phefs*18 is Due to Acquisition of a Hydrophobic Degron.
Sugisawa C et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis.
Zou M et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
Association between monoallelic TSHR mutations and congenital hypothyroidism: a statistical approach.
Abe K et al.
European Journal of Endocrinology, 2018
A frequent oligogenic involvement in congenital hypothyroidism.
de Filippis T et al.
Human Molecular Genetics, 2017
A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.
Park KJ et al.
Annals of Laboratory Medicine, 2016
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