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Search for abnormalities of nuclear corepressors, coactivators, and a coregulator in families with resistance to thyroid hormone without mutations in thyroid hormone receptor beta or alpha genes.
Reutrakul S, Sadow PM, Pannain S, Pohlenz J, Carvalho GA, Macchia PE, Weiss RE, Refetoff S. Reutrakul S, et al. Among authors: pohlenz j. J Clin Endocrinol Metab. 2000 Oct;85(10):3609-17. doi: 10.1210/jcem.85.10.6873. J Clin Endocrinol Metab. 2000. PMID: 11061510
A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion.
Hulur I, Hermanns P, Nestoris C, Heger S, Refetoff S, Pohlenz J, Grasberger H. Hulur I, et al. Among authors: pohlenz j. J Clin Endocrinol Metab. 2011 May;96(5):E841-5. doi: 10.1210/jc.2010-2321. Epub 2011 Mar 2. J Clin Endocrinol Metab. 2011. PMID: 21367925 Free PMC article.
217 results