Screening of 23 candidate genes by next-generation sequencing of patients with permanent congenital hypothyroidism: novel variants in TG, TSHR, DUOX2, FOXE1, and SLC26A7-Reference-Cited by-同舟云学术

Screening of 23 candidate genes by next-generation sequencing of patients with permanent congenital hypothyroidism: novel variants in TG, TSHR, DUOX2, FOXE1, and SLC26A7

Published:2021-11-15 Issue: Volume: Page:
ISSN:1720-8386
Container-title:Journal of Endocrinological Investigation
language:en
Short-container-title:J Endocrinol Invest

Author:

Acar S.,Gürsoy S.,Arslan G.,Nalbantoğlu Ö.,Hazan F.,Köprülü Ö.,Özkaya B.,Özkan B.

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://link.springer.com/content/pdf/10.1007/s40618-021-01706-1.pdf

Reference58 articles.

1. Cherella CE, Wassner AJ (2017) Congenital hypothyroidism: insights into pathogenesis and treatment. Int J Pediatr Endocrinol 2017:11. https://doi.org/10.1186/s13633-017-0051-0

2. Dilli D, Çzbaş S, Acıcan D, Yamak N, Ertek M, Dilmen U (2013) Establishment and development of a national newborn screening programme for congenital hypothyroidism in Turkey. J Clin Res Pediatr Endocrinol 5(2):73–79. https://doi.org/10.4274/Jcrpe.929

3. Szinnai G (2014) Clinical genetics of congenital hypothyroidism. Endocr Dev 26:60–78. https://doi.org/10.1159/000363156

4. Persani L, Rurale G, de Filippis T, Galazzi E, Muzza M, Fugazzola L (2018) Genetics and management of congenital hypothyroidism. Best Pract Res Clin Endocrinol Metab 32(4):387–396. https://doi.org/10.1016/j.beem.2018.05.002

5. Targovnik HM, Citterio CE, Rivolta CM (2011) Thyroglobulin gene mutations in congenital hypothyroidism. Horm Res Paediatr 75:311–321. https://doi.org/10.1159/000324882

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Personalized Management of Malignant and Non-Malignant Ectopic Mediastinal Thyroid: A Proposed 10-Item Algorithm Approach;Cancers;2024-05-14

2. Structural features of thyroglobulin linked to protein trafficking;Protein Science;2023-10-16

3. Curating the gnomAD database: Report of novel variants in the thyroid peroxidase gene using in silico bioinformatics algorithms and a literature review;Molecular and Cellular Endocrinology;2022-12

4. Newborn Genetic Screening Revealed Increased Levels of Biochemical Indicators in Carriers of Heterozygous Variants;Genetic Testing and Molecular Biomarkers;2022-12-01

5. Gene mutations in children with permanent congenital hypothyroidism in Yunnan, China;Journal of Zhejiang University (Medical Sciences);2022-06-01