Weber G - Search Results

1

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. Among authors: weber g. 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

2

Bone mass in young patients with type I diabetes.

Weber G, Beccaria L, de'Angelis M, Mora S, Galli L, Cazzuffi MA, Turba F, Frisone F, Guarneri MP, Chiumello G. Weber G, et al. Bone Miner. 1990 Jan;8(1):23-30. doi: 10.1016/0169-6009(91)90137-o. Bone Miner. 1990. PMID: 2306551

3

Congenital hypothyroidism: auxological retrospective study during the first six years of age.

Siragusa V, Terenghi A, Rondanini GF, Vigone MC, Galli L, Weber G, Chiumello G. Siragusa V, et al. Among authors: weber g. J Endocrinol Invest. 1996 Apr;19(4):224-9. doi: 10.1007/BF03349872. J Endocrinol Invest. 1996. PMID: 8862502

4

Comparison of clinical-radiological and molecular findings in hypochondroplasia.

Prinster C, Carrera P, Del Maschio M, Weber G, Maghnie M, Vigone MC, Mora S, Tonini G, Rigon F, Beluffi G, Severi F, Chiumello G, Ferrari M. Prinster C, et al. Among authors: weber g. Am J Med Genet. 1998 Jan 6;75(1):109-12. doi: 10.1002/(sici)1096-8628(19980106)75:1<109::aid-ajmg22>3.0.co;2-p. Am J Med Genet. 1998. PMID: 9450868

5

Neonatal transient hypothyroidism: aetiological study. Italian Collaborative Study on Transient Hypothyroidism.

Weber G, Vigone MC, Rapa A, Bona G, Chiumello G. Weber G, et al. Arch Dis Child Fetal Neonatal Ed. 1998 Jul;79(1):F70-2. doi: 10.1136/fn.79.1.f70. Arch Dis Child Fetal Neonatal Ed. 1998. PMID: 9797631 Free PMC article.

6

Measurement of urinary iodine excretion to reveal iodine excess in neonatal transient hypothyroidism.

Bona G, Chiorboli E, Rapa A, Weber G, Vigone MC, Chiumello G. Bona G, et al. Among authors: weber g. J Pediatr Endocrinol Metab. 1998 Nov-Dec;11(6):739-43. doi: 10.1515/jpem.1998.11.6.739. J Pediatr Endocrinol Metab. 1998. PMID: 9829229

7

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. Among authors: weber g. 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.

8

Crying abnormalities in congenital hypothyroidism: preliminary spectrographic study.

Boero DL, Weber G, Vigone MC, Lenti C. Boero DL, et al. Among authors: weber g. J Child Neurol. 2000 Sep;15(9):603-8. doi: 10.1177/088307380001500906. J Child Neurol. 2000. PMID: 11019791

9

Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: identification of two novel mutations.

Mantovani G, Romoli R, Weber G, Brunelli V, De Menis E, Beccio S, Beck-Peccoz P, Spada A. Mantovani G, et al. Among authors: weber g. J Clin Endocrinol Metab. 2000 Nov;85(11):4243-8. doi: 10.1210/jcem.85.11.6986. J Clin Endocrinol Metab. 2000. PMID: 11095461

10

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: weber g. J Clin Endocrinol Metab. 2001 Apr;86(4):1600-4. doi: 10.1210/jcem.86.4.7411. J Clin Endocrinol Metab. 2001. PMID: 11297590

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