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Neonatal Screening for Congenital Hypothyroidism: What Can We Learn From Discordant Twins?
Medda E, Vigone MC, Cassio A, Calaciura F, Costa P, Weber G, de Filippis T, Gelmini G, Di Frenna M, Caiulo S, Ortolano R, Rotondi D, Bartolucci M, Gelsomino R, De Angelis S, Gabbianelli M, Persani L, Olivieri A. Medda E, et al. Among authors: di frenna m. J Clin Endocrinol Metab. 2019 Dec 1;104(12):5765-5779. doi: 10.1210/jc.2019-00900. J Clin Endocrinol Metab. 2019. PMID: 31287502
Mild TSH resistance: Clinical and hormonal features in childhood and adulthood.
Vigone MC, Di Frenna M, Guizzardi F, Gelmini G, de Filippis T, Mora S, Caiulo S, Sonnino M, Bonomi M, Persani L, Weber G. Vigone MC, et al. Among authors: di frenna m. Clin Endocrinol (Oxf). 2017 Nov;87(5):587-596. doi: 10.1111/cen.13387. Epub 2017 Jul 6. Clin Endocrinol (Oxf). 2017. PMID: 28561265
Newborn Screening for Congenital Hypothyroidism: the Benefit of Using Differential TSH Cutoffs in a 2-Screen Program.
Caiulo S, Corbetta C, Di Frenna M, Medda E, De Angelis S, Rotondi D, Vincenzi G, de Filippis T, Patricelli MG, Persani L, Barera G, Weber G, Olivieri A, Vigone MC. Caiulo S, et al. Among authors: di frenna m. J Clin Endocrinol Metab. 2021 Jan 1;106(1):e338-e349. doi: 10.1210/clinem/dgaa789. J Clin Endocrinol Metab. 2021. PMID: 33124651 Free article.
Stochastic epigenetic mutations as possible explanation for phenotypical discordance among twins with congenital hypothyroidism.
Gentilini D, Muzza M, de Filippis T, Vigone MC, Weber G, Calzari L, Cassio A, Di Frenna M, Bartolucci M, Grassi ES, Carbone E, Olivieri A, Persani L. Gentilini D, et al. Among authors: di frenna m. J Endocrinol Invest. 2023 Feb;46(2):393-404. doi: 10.1007/s40618-022-01915-2. Epub 2022 Sep 7. J Endocrinol Invest. 2023. PMID: 36071330 Free PMC article.
A frequent oligogenic involvement in congenital hypothyroidism.
de Filippis T, Gelmini G, Paraboschi E, Vigone MC, Di Frenna M, Marelli F, Bonomi M, Cassio A, Larizza D, Moro M, Radetti G, Salerno M, Ardissino D, Weber G, Gentilini D, Guizzardi F, Duga S, Persani L. de Filippis T, et al. Among authors: di frenna m. Hum Mol Genet. 2017 Jul 1;26(13):2507-2514. doi: 10.1093/hmg/ddx145. Hum Mol Genet. 2017. PMID: 28444304 Free article.
Rare cases of autoimmune hypothyroidism in young children.
Tronconi GM, Caiulo S, Di Frenna M, Vigone MC, Chiumello G, Weber G. Tronconi GM, et al. Among authors: di frenna m. J Pediatr Endocrinol Metab. 2013;26(9-10):963-6. doi: 10.1515/jpem-2012-0423. J Pediatr Endocrinol Metab. 2013. PMID: 23612641
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