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familial thyroid dyshormonogenesis相关文献:
Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology.
van Trotsenburg P, Stoupa A, Léger J, Rohrer T, Peters C, Fugazzola L, Cassio A, Heinrichs C, Beauloye V, Pohlenz J, Rodien P, Coutant R, Szinnai G, Murray P, Bartés B, Luton D, Salerno M, de Sanctis L, Vigone M, Krude H, Persani L, Polak M.
Thyroid. 2021 Mar;31(3):387-419. doi: 10.1089/thy.2020.0333.
PMID:33272083
The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.
Sun F, Zhang JX, Yang CY, Gao GQ, Zhu WB, Han B, Zhang LL, Wan YY, Ye XP, Ma YR, Zhang MM, Yang L, Zhang QY, Liu W, Guo CC, Chen G, Zhao SX, Song KY, Song HD.
Eur J Endocrinol. 2018 Jun;178(6):623-633. doi: 10.1530/EJE-17-1017. Epub 2018 Apr 12.
PMID:29650690
Disorders of H2O2 generation.
Muzza M, Fugazzola L.
Best Pract Res Clin Endocrinol Metab. 2017 Mar;31(2):225-240. doi: 10.1016/j.beem.2017.04.006. Epub 2017 May 10.
PMID:28648510
Athyreosis, dysgenesis, and dyshormonogenesis in congenital hypothyroidism.
Topaloglu AK.
Pediatr Endocrinol Rev. 2006 Aug;3 Suppl 3:498-502.
PMID:17551472
Functional Characterization of Thyroid Peroxidase Missense Variants Causing Thyroid Dyshormonogenesis in Asian Indian Population.
Sarma AS, Desai A, Rao M, Sahoo JP, Shivaprasad C, Ranganath P, Lakshmi P, D'Sa L, Dalal A.
Horm Res Paediatr. 2024 Jul 18:1-9. doi: 10.1159/000539825. Online ahead of print.
PMID:38986456
Thyroid dyshormonogenesis and associated non-thyroidal anomalies in a tertiary care hospital in India.
Rather TA, Khan SH, Masoodi S, Alai MS.
Horm Res Paediatr. 2014;81(5):314-8. doi: 10.1159/000357843. Epub 2014 Mar 14.
PMID:24642829
Genetics of primary congenital hypothyroidism-a review.
Kostopoulou E, Miliordos K, Spiliotis B.
Hormones (Athens). 2021 Jun;20(2):225-236. doi: 10.1007/s42000-020-00267-x. Epub 2021 Jan 5.
PMID:33400193
Clinical genetics of congenital hypothyroidism.
Szinnai G.
Endocr Dev. 2014;26:60-78. doi: 10.1159/000363156. Epub 2014 Aug 29.
PMID:25231445
Genetics of congenital hypothyroidism.
Park SM, Chatterjee VK.
J Med Genet. 2005 May;42(5):379-89. doi: 10.1136/jmg.2004.024158.
PMID:15863666
High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis.
Avbelj M, Tahirovic H, Debeljak M, Kusekova M, Toromanovic A, Krzisnik C, Battelino T.
Eur J Endocrinol. 2007 May;156(5):511-9. doi: 10.1530/EJE-07-0037.
PMID:17468186
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