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The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects.
Muzza M, Rabbiosi S, Vigone MC, Zamproni I, Cirello V, Maffini MA, Maruca K, Schoenmakers N, Beccaria L, Gallo F, Park SM, Beck-Peccoz P, Persani L, Weber G, Fugazzola L. Muzza M, et al. J Clin Endocrinol Metab. 2014 Mar;99(3):E544-53. doi: 10.1210/jc.2013-3618. Epub 2013 Jan 1. J Clin Endocrinol Metab. 2014. PMID: 24423310
DUOXS defects: Genotype-phenotype correlations.
Fugazzola L, Muzza M, Weber G, Beck-Peccoz P, Persani L. Fugazzola L, et al. Ann Endocrinol (Paris). 2011 Apr;72(2):82-6. doi: 10.1016/j.ando.2011.03.004. Epub 2011 Apr 20. Ann Endocrinol (Paris). 2011. PMID: 21511237 Review.
BRAF mutations in an Italian cohort of thyroid cancers.
Fugazzola L, Mannavola D, Cirello V, Vannucchi G, Muzza M, Vicentini L, Beck-Peccoz P. Fugazzola L, et al. Clin Endocrinol (Oxf). 2004 Aug;61(2):239-43. doi: 10.1111/j.1365-2265.2004.02089.x. Clin Endocrinol (Oxf). 2004. PMID: 15272920
Thyroid scintigraphy and perchlorate test after recombinant human TSH: a new tool for the differential diagnosis of congenital hypothyroidism during infancy.
Fugazzola L, Persani L, Vannucchi G, Carletto M, Mannavola D, Vigone MC, Cortinovis F, Beccaria L, Longari V, Weber G, Beck-Peccoz P. Fugazzola L, et al. Eur J Nucl Med Mol Imaging. 2007 Sep;34(9):1498-503. doi: 10.1007/s00259-007-0377-6. Epub 2007 Feb 22. Eur J Nucl Med Mol Imaging. 2007. PMID: 17318546
481 results