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
Novel TSHB variant (c.217A>C) causing severe central hypothyroidism and pituitary hyperplasia.
Kaplan AI et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2022
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
Diagnosis and Management of Central Congenital Hypothyroidism.
Lauffer P et al.
Frontiers in Endocrinology, 2021
34566885 (PubMed )
Supplement: Table_1.docx
Recent advances in research on isolated congenital central hypothyroidism.
Tajima T et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2019
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives
Peters C et al.
European Journal of Endocrinology, 2018
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
Congenital Central Hypothyroidism Caused by a Novel Thyroid-Stimulating Hormone-Beta Subunit Gene Mutation in Two Siblings.
Özhan B et al.
Journal of Clinical Research in Pediatric Endocrinology, 2017
Molecular spectrum of TSHβ subunit gene defects in central hypothyroidism in the UK and Ireland.
Nicholas AK et al.
Clinical Endocrinology, 2017
Recent advances in central congenital hypothyroidism.
Schoenmakers N et al.
The Journal of Endocrinology, 2015
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