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A molecular analysis and long-term follow-up of two siblings with severe congenital hypothyroidism carrying the IVS30+1G>T intronic thyroglobulin mutation.
Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1337-44. doi: 10.1590/s0004-27302008000800022.
Arq Bras Endocrinol Metabol. 2008.
PMID: 19169491
The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation.
Pardo V, Vono-Toniolo J, Rubio IG, Knobel M, Possato RF, Targovnik HM, Kopp P, Medeiros-Neto G.
Pardo V, et al. Among authors: possato rf.
J Clin Endocrinol Metab. 2009 Aug;94(8):2938-44. doi: 10.1210/jc.2009-0150. Epub 2009 Jun 9.
J Clin Endocrinol Metab. 2009.
PMID: 19509106
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Peripheral blood levels of thyroglobulin mRNA and serum thyroglobulin concentrations after radioiodine ablation of multinodular goiter with or without pre-treatment with recombinant human thyrotropin.
Rubio IG, Silva MN, Knobel M, Romão R, Possato R, Gebrin EM, Buchpiguel C, Medeiros-Neto G.
Rubio IG, et al.
J Endocrinol Invest. 2007 Jul-Aug;30(7):535-40. doi: 10.1007/BF03346345.
J Endocrinol Invest. 2007.
PMID: 17848834
Clinical Trial.
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