Fugazzola L - Search Results

1

Clinical Consequences of Variable Results in the Measurement of Free Thyroid Hormones: Unusual Presentation of a Family with a Novel Variant in the THRB Gene Causing Resistance to Thyroid Hormone Syndrome.

Campi I, Agostini M, Marelli F, de Filippis T, Romartinez-Alonso B, Rajanayagam O, Rurale G, Gentile I, Spagnolo F, Andreasi M, Ferraù F, Cannavò S, Fugazzola L, Chatterjee KV, Persani L. Campi I, et al. Among authors: fugazzola l. Eur Thyroid J. 2021 Nov;10(6):533-541. doi: 10.1159/000519748. Epub 2021 Oct 22. Eur Thyroid J. 2021. PMID: 34956926 Free PMC article.

2

Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome.

Fugazzola L, Mannavola D, Cerutti N, Maghnie M, Pagella F, Bianchi P, Weber G, Persani L, Beck-Peccoz P. Fugazzola L, et al. J Clin Endocrinol Metab. 2000 Jul;85(7):2469-75. doi: 10.1210/jcem.85.7.6694. J Clin Endocrinol Metab. 2000. PMID: 10902795 Clinical Trial.

3

Genetic analyses and evaluation of peripheral parameters of thyroid hormone action for the differential diagnosis of RTH. A novel heterozygous missense mutation (M334T) discovered.

Mannavola D, Vannucchi G, Fugazzola L, Cerutti N, Persani L, Beck-Peccoz P. Mannavola D, et al. Among authors: fugazzola l. J Endocrinol Invest. 2002 Feb;25(2):RC4-6. doi: 10.1007/BF03343969. J Endocrinol Invest. 2002. PMID: 11929097

4

Highly sensitive serum thyroglobulin and circulating thyroglobulin mRNA evaluations in the management of patients with differentiated thyroid cancer in apparent remission.

Fugazzola L, Mihalich A, Persani L, Cerutti N, Reina M, Bonomi M, Ponti E, Mannavola D, Giammona E, Vannucchi G, di Blasio AM, Beck-Peccoz P. Fugazzola L, et al. J Clin Endocrinol Metab. 2002 Jul;87(7):3201-8. doi: 10.1210/jcem.87.7.8653. J Clin Endocrinol Metab. 2002. PMID: 12107225

5

Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect.

Fugazzola L, Cerutti N, Mannavola D, Vannucchi G, Fallini C, Persani L, Beck-Peccoz P. Fugazzola L, et al. J Clin Endocrinol Metab. 2003 Jul;88(7):3264-71. doi: 10.1210/jc.2002-021377. J Clin Endocrinol Metab. 2003. PMID: 12843174

6

Recombinant human TSH testing is a valuable tool for differential diagnosis of congenital hypothyroidism during L-thyroxine replacement.

Fugazzola L, Persani L, Mannavola D, Reschini E, Vannucchi G, Weber G, Beck-Peccoz P. Fugazzola L, et al. Clin Endocrinol (Oxf). 2003 Aug;59(2):230-6. doi: 10.1046/j.1365-2265.2003.01830.x. Clin Endocrinol (Oxf). 2003. PMID: 12864801

7

Different responses to chronic somatostatin analogues in patients with central hyperthyroidism.

Mannavola D, Persani L, Vannucchi G, Zanardelli M, Fugazzola L, Verga U, Facchetti M, Beck-Peccoz P. Mannavola D, et al. Among authors: fugazzola l. Clin Endocrinol (Oxf). 2005 Feb;62(2):176-81. doi: 10.1111/j.1365-2265.2004.02192.x. Clin Endocrinol (Oxf). 2005. PMID: 15670193

8

Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings.

Vigone MC, Fugazzola L, Zamproni I, Passoni A, Di Candia S, Chiumello G, Persani L, Weber G. Vigone MC, et al. Among authors: fugazzola l. Hum Mutat. 2005 Oct;26(4):395. doi: 10.1002/humu.9372. Hum Mutat. 2005. PMID: 16134168

9

Total iodide organification defect: clinical and molecular characterization of an Italian family.

Fugazzola L, Mannavola D, Vigone MC, Cirello V, Weber G, Beck-Peccoz P, Persani L. Fugazzola L, et al. Thyroid. 2005 Sep;15(9):1085-8. doi: 10.1089/thy.2005.15.1085. Thyroid. 2005. PMID: 16187919

10

The expression of wild-type pendrin (SLC26A4) in human embryonic kidney (HEK 293 Phoenix) cells leads to the activation of cationic currents.

Dossena S, Maccagni A, Vezzoli V, Bazzini C, Garavaglia ML, Meyer G, Fürst J, Ritter M, Fugazzola L, Persani L, Zorowka P, Storelli C, Beck-Peccoz P, Bottà G, Paulmichl M. Dossena S, et al. Among authors: fugazzola l. Eur J Endocrinol. 2005 Nov;153(5):693-9. doi: 10.1530/eje.1.02018. Eur J Endocrinol. 2005. PMID: 16260428 Free article.

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