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familial thyroid dyshormonogenesis相关文献:
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
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
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
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
Clinical genetics of congenital hypothyroidism.
Szinnai G.
Endocr Dev. 2014;26:60-78. doi: 10.1159/000363156. Epub 2014 Aug 29.
PMID:25231445
Genetics and management of congenital hypothyroidism.
Persani L, Rurale G, de Filippis T, Galazzi E, Muzza M, Fugazzola L.
Best Pract Res Clin Endocrinol Metab. 2018 Aug;32(4):387-396. doi: 10.1016/j.beem.2018.05.002. Epub 2018 May 19.
PMID:30086865
Defects of Thyroid Hormone Synthesis and Action.
Hannoush ZC, Weiss RE.
Endocrinol Metab Clin North Am. 2017 Jun;46(2):375-388. doi: 10.1016/j.ecl.2017.01.005. Epub 2017 Mar 6.
PMID:28476227
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
Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis.
Oliver-Petit I, Edouard T, Jacques V, Bournez M, Cartault A, Grunenwald S, Savagner F.
Front Endocrinol (Lausanne). 2021 Jun 24;12:657913. doi: 10.3389/fendo.2021.657913. eCollection 2021.
PMID:34248839
Iodide handling disorders (NIS, TPO, TG, IYD).
Targovnik HM, Citterio CE, Rivolta CM.
Best Pract Res Clin Endocrinol Metab. 2017 Mar;31(2):195-212. doi: 10.1016/j.beem.2017.03.006. Epub 2017 Apr 4.
PMID:28648508
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