Results 1 -
10
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25
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Central hypothyroidism
- ... WG, Pohlenz J. Initially elevated TSH and congenital central hypothyroidism due to a homozygous mutation of the TSH ... RM, Polak M. New cases of isolated congenital central hypothyroidism due to homozygous thyrotropin beta gene mutations: a ...
- ... in this gene are the primary cause of central hypothyroidism. The resulting shortage of thyroid hormones disrupts normal ... Citation on PubMed or Free article on PubMed Central Szinnai G. Clinical genetics of congenital hypothyroidism. Endocr Dev. 2014;26:60-78. doi: 10. ...
- ... Citation on PubMed or Free article on PubMed Central Nascimento AC, Guedes DR, Santos CS, Knobel M, Rubio IG, Medeiros-Neto G. Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect. Thyroid. ...
- ... Citation on PubMed or Free article on PubMed Central Bas VN, Cangul H, Agladioglu SY, Kendall M, Cetinkaya S, Maher ER, Aycan Z. Mild and severe congenital primary hypothyroidism in two patients by thyrotropin receptor (TSHR) gene ...
- ... Citation on PubMed or Free article on PubMed Central Ramos HE, ... of congenital hypothyroidism due to PAX8 gene loss-of-function mutations. ...
- ... Citation on PubMed or Free article on PubMed Central Krude ... Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 ...
- ... Citation on PubMed or Free article on PubMed Central Caron P, Moya ... in fetal goitrous hypothyroidism. J Clin Endocrinol Metab. 2003 Aug;88(8): ...
- ... van Landeghem F, DiLauro R, Gruters A. Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. J Clin Invest. 2002 Feb;109(4):475-80. doi: 10.1172/JCI14341. Citation on PubMed or Free article on PubMed Central Nettore IC, Mirra P, Ferrara AM, Sibilio A, ...
- ... Spitzweg C, Morris JC. Genetics and phenomics of hypothyroidism and goiter due ... Central Spitzweg C, Morris JC. The sodium iodide symporter: ...
- ... Citation on PubMed or Free article on PubMed Central Schwartz CE, May MM, Carpenter NJ, Rogers RC, ... Citation on PubMed or Free article on PubMed Central