Fugazzola L - Search Results

1

JAG1 Loss-Of-Function Variations as a Novel Predisposing Event in the Pathogenesis of Congenital Thyroid Defects.

de Filippis T, Marelli F, Nebbia G, Porazzi P, Corbetta S, Fugazzola L, Gastaldi R, Vigone MC, Biffanti R, Frizziero D, Mandarà L, Prontera P, Salerno M, Maghnie M, Tiso N, Radetti G, Weber G, Persani L. de Filippis T, et al. Among authors: fugazzola l. J Clin Endocrinol Metab. 2016 Mar;101(3):861-70. doi: 10.1210/jc.2015-3403. Epub 2016 Jan 13. J Clin Endocrinol Metab. 2016. PMID: 26760175 Free article.

2

Expression of thyrotropin receptor (TSH-R), thyroglobulin, thyroperoxidase, and calcitonin messenger ribonucleic acids in thyroid carcinomas: evidence of TSH-R gene transcript in medullary histotype.

Elisei R, Pinchera A, Romei C, Gryczynska M, Pohl V, Maenhaut C, Fugazzola L, Pacini F. Elisei R, et al. Among authors: fugazzola l. J Clin Endocrinol Metab. 1994 Apr;78(4):867-71. doi: 10.1210/jcem.78.4.8157713. J Clin Endocrinol Metab. 1994. PMID: 8157713

3

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.

4

Multigenerational familial medullary thyroid cancer (FMTC): evidence for FMTC phenocopies and association with papillary thyroid cancer.

Fugazzola L, Cerutti N, Mannavola D, Ghilardi G, Alberti L, Romoli R, Beck-Peccoz P. Fugazzola L, et al. Clin Endocrinol (Oxf). 2002 Jan;56(1):53-63. doi: 10.1046/j.0300-0664.2001.01434.x. Clin Endocrinol (Oxf). 2002. PMID: 11849247

5

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

6

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

7

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

8

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

9

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

10

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

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