Proverbio MC - Search Results

1

Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism.

Alberti L, Proverbio MC, Costagliola S, Romoli R, Boldrighini B, Vigone MC, Weber G, Chiumello G, Beck-Peccoz P, Persani L. Alberti L, et al. Among authors: proverbio mc. J Clin Endocrinol Metab. 2002 Jun;87(6):2549-55. doi: 10.1210/jcem.87.6.8536. J Clin Endocrinol Metab. 2002. PMID: 12050212

2

Hyperplastic pituitary gland, high serum glycoprotein hormone alpha-subunit, and variable circulating thyrotropin (TSH) levels as hallmark of central hypothyroidism due to mutations of the TSH beta gene.

Bonomi M, Proverbio MC, Weber G, Chiumello G, Beck-Peccoz P, Persani L. Bonomi M, et al. Among authors: proverbio mc. J Clin Endocrinol Metab. 2001 Apr;86(4):1600-4. doi: 10.1210/jcem.86.4.7411. J Clin Endocrinol Metab. 2001. PMID: 11297590

3

A novel germline mutation in the TSH receptor gene causes non-autoimmune autosomal dominant hyperthyroidism.

Alberti L, Proverbio MC, Costagliola S, Weber G, Beck-Peccoz P, Chiumello G, Persani L. Alberti L, et al. Among authors: proverbio mc. Eur J Endocrinol. 2001 Sep;145(3):249-54. doi: 10.1530/eje.0.1450249. Eur J Endocrinol. 2001. PMID: 11517004

4

Congenital hypothyroidism with gland in situ: diagnostic re-evaluation.

Weber G, Vigone MC, Passoni A, Odoni M, Paesano PL, Dosio F, Proverbio MC, Corbetta C, Persani L, Chiumello G. Weber G, et al. Among authors: proverbio mc. J Endocrinol Invest. 2005 Jun;28(6):516-22. doi: 10.1007/BF03347239. J Endocrinol Invest. 2005. PMID: 16117192

5

Genetic variants of PARP4 gene and PARP4P2 pseudogene in patients with multiple primary tumors including thyroid cancer.

Cirello V, Colombo C, Pogliaghi G, Proverbio MC, Rossi S, Mussani E, Tosi D, Bulfamante G, Bonoldi E, Gherardi G, Persani L, Fugazzola L. Cirello V, et al. Among authors: proverbio mc. Mutat Res. 2019 Nov;816-818:111672. doi: 10.1016/j.mrfmmm.2019.111672. Epub 2019 Jun 1. Mutat Res. 2019. PMID: 31203137

6

Autosomal dominant hypocalcemia in monozygotic twins caused by a de novo germline mutation near the amino-terminus of the human calcium receptor.

Hu J, Mora S, Weber G, Zamproni I, Proverbio MC, Spiegel AM. Hu J, et al. Among authors: proverbio mc. J Bone Miner Res. 2004 Apr;19(4):578-86. doi: 10.1359/JBMR.040106. Epub 2004 Jan 5. J Bone Miner Res. 2004. PMID: 15005845 Free article.

7

Identification of two novel frameshift mutations in the KCNJ11 gene in two Italian patients affected by Congenital Hyperinsulinism of Infancy.

Biagiotti L, Proverbio MC, Bosio L, Gervasi F, Rovida E, Cerioni V, Bove M, Valin PS, Albarello L, Zamproni I, Grassi S, Doglioni C, Mora S, Chiumello G, Biunno I. Biagiotti L, et al. Among authors: proverbio mc. Exp Mol Pathol. 2007 Aug;83(1):59-64. doi: 10.1016/j.yexmp.2006.11.006. Epub 2007 Jan 17. Exp Mol Pathol. 2007. PMID: 17316607

8

Bone density and bone metabolism are normal after long-term gluten-free diet in young celiac patients.

Mora S, Barera G, Beccio S, Proverbio MC, Weber G, Bianchi C, Chiumello G. Mora S, et al. Among authors: proverbio mc. Am J Gastroenterol. 1999 Feb;94(2):398-403. doi: 10.1111/j.1572-0241.1999.867_r.x. Am J Gastroenterol. 1999. PMID: 10022636

9

Identification of a diffuse form of hyperinsulinemic hypoglycemia by 18-fluoro-L-3,4 dihydroxyphenylalanine positron emission tomography/CT in a patient carrying a novel mutation of the HADH gene.

Di Candia S, Gessi A, Pepe G, Sogno Valin P, Mangano E, Chiumello G, Gianolli L, Proverbio MC, Mora S. Di Candia S, et al. Among authors: proverbio mc. Eur J Endocrinol. 2009 Jun;160(6):1019-23. doi: 10.1530/EJE-08-0945. Epub 2009 Mar 24. Eur J Endocrinol. 2009. PMID: 19318379

10

Longitudinal changes of bone density and bone resorption in hyperthyroid girls during treatment.

Mora S, Weber G, Marenzi K, Signorini E, Rovelli R, Proverbio MC, Chiumello G. Mora S, et al. Among authors: proverbio mc. J Bone Miner Res. 1999 Nov;14(11):1971-7. doi: 10.1359/jbmr.1999.14.11.1971. J Bone Miner Res. 1999. PMID: 10571698 Free article. Clinical Trial.

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