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106 results

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A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature.
Mancioppi V, Daffara T, Romanisio M, Ceccarini G, Pelosini C, Santini F, Bellone S, Mellone S, Baricich A, Rabbone I, Aimaretti G, Akinci B, Giordano M, Prodam F. Mancioppi V, et al. Among authors: mellone s. Front Endocrinol (Lausanne). 2023 Jul 12;14:1212729. doi: 10.3389/fendo.2023.1212729. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37501786 Free PMC article. Review.
Case report: Better late than never, but sooner is better: switch from CSII to sulfonylureas in two patients with neonatal diabetes due to KCNJ11 variants.
Mancioppi V, Pozzi E, Zanetta S, Missineo A, Savastio S, Barbetti F, Mellone S, Giordano M, Rabbone I. Mancioppi V, et al. Among authors: mellone s. Front Endocrinol (Lausanne). 2023 May 11;14:1143736. doi: 10.3389/fendo.2023.1143736. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37251668 Free PMC article.
A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency.
Godi M, Mellone S, Petri A, Arrigo T, Bardelli C, Corrado L, Bellone S, Prodam F, Momigliano-Richiardi P, Bona G, Giordano M. Godi M, et al. Among authors: mellone s. J Clin Endocrinol Metab. 2009 Oct;94(10):3939-47. doi: 10.1210/jc.2009-0833. Epub 2009 Jul 21. J Clin Endocrinol Metab. 2009. PMID: 19622623
Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.
De Rienzo F, Mellone S, Bellone S, Babu D, Fusco I, Prodam F, Petri A, Muniswamy R, De Luca F, Salerno M, Momigliano-Richardi P, Bona G, Giordano M; Italian Study Group on Genetics of CPHD. De Rienzo F, et al. Among authors: mellone s. Clin Endocrinol (Oxf). 2015 Dec;83(6):849-60. doi: 10.1111/cen.12849. Epub 2015 Aug 6. Clin Endocrinol (Oxf). 2015. PMID: 26147833 Review.
106 results