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Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly.
Elli FM, Mattinzoli D, Lucca C, Piu M, Maffini MA, Costanza J, Fontana L, Santaniello C, Forino C, Milani D, Bonati MT, Secco A, Gastaldi R, Alfieri C, Messa P, Miozzo M, Arosio M, Mantovani G. Elli FM, et al. Among authors: maffini ma. J Bone Miner Res. 2022 Mar;37(3):465-474. doi: 10.1002/jbmr.4490. Epub 2022 Jan 17. J Bone Miner Res. 2022. PMID: 34897794 Free PMC article.
Retinal Photoreceptor Functions Are Compromised in Patients With Resistance to Thyroid Hormone Syndrome (RTHβ).
Campi I, Cammarata G, Bianchi Marzoli S, Beck-Peccoz P, Santarsiero D, Dazzi D, Bottari de Castello A, Taroni EG, Viola F, Mian C, Watutantrige-Fernando S, Pelusi C, Muzza M, Maffini MA, Persani L. Campi I, et al. Among authors: maffini ma. J Clin Endocrinol Metab. 2017 Jul 1;102(7):2620-2627. doi: 10.1210/jc.2016-3671. J Clin Endocrinol Metab. 2017. PMID: 28379567
The limited role of midnight salivary cortisol levels in the diagnosis of subclinical hypercortisolism in patients with adrenal incidentaloma.
Masserini B, Morelli V, Bergamaschi S, Ermetici F, Eller-Vainicher C, Barbieri AM, Maffini MA, Scillitani A, Ambrosi B, Beck-Peccoz P, Chiodini I. Masserini B, et al. Among authors: maffini ma. Eur J Endocrinol. 2009 Jan;160(1):87-92. doi: 10.1530/EJE-08-0485. Epub 2008 Oct 3. Eur J Endocrinol. 2009. PMID: 18835977
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: maffini ma. 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
Fetal cell microchimerism: a protective role in autoimmune thyroid diseases.
Cirello V, Rizzo R, Crippa M, Campi I, Bortolotti D, Bolzani S, Colombo C, Vannucchi G, Maffini MA, de Liso F, Ferrero S, Finelli P, Fugazzola L. Cirello V, et al. Among authors: maffini ma. Eur J Endocrinol. 2015 Jul;173(1):111-8. doi: 10.1530/EJE-15-0028. Epub 2015 Apr 27. Eur J Endocrinol. 2015. PMID: 25916393
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