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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 2
2006 1
2008 2
2009 2
2010 1
2011 2
2012 1
2014 1
2016 2
2017 2
2018 2
2019 1
2020 0
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18 results
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Page 1
Genetics and management of congenital hypothyroidism.
Persani L, Rurale G, de Filippis T, Galazzi E, Muzza M, Fugazzola L. Persani L, et al. Among authors: de filippis t. Best Pract Res Clin Endocrinol Metab. 2018 Aug;32(4):387-396. doi: 10.1016/j.beem.2018.05.002. Epub 2018 May 19. Best Pract Res Clin Endocrinol Metab. 2018. PMID: 30086865 Review.
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. Hum Mol Genet. 2017 Jul 1;26(13):2507-2514. doi: 10.1093/hmg/ddx145. Hum Mol Genet. 2017. PMID: 28444304
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: de filippis t. J Clin Endocrinol Metab. 2019 Dec 1;104(12):5765-5779. doi: 10.1210/jc.2019-00900. J Clin Endocrinol Metab. 2019. PMID: 31287502
GENETICS IN ENDOCRINOLOGY: Genetic diagnosis of endocrine diseases by NGS: novel scenarios and unpredictable results and risks.
Persani L, de Filippis T, Colombo C, Gentilini D. Persani L, et al. Among authors: de filippis t. Eur J Endocrinol. 2018 Sep;179(3):R111-R123. doi: 10.1530/EJE-18-0379. Epub 2018 Jun 7. Eur J Endocrinol. 2018. PMID: 29880707 Free article. Review.
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: de filippis t. Clin Endocrinol (Oxf). 2017 Nov;87(5):587-596. doi: 10.1111/cen.13387. Epub 2017 Jul 6. Clin Endocrinol (Oxf). 2017. PMID: 28561265 Clinical Trial.
Genetics and phenomics of hypothyroidism due to TSH resistance.
Persani L, Calebiro D, Cordella D, Weber G, Gelmini G, Libri D, de Filippis T, Bonomi M. Persani L, et al. Among authors: de filippis t. Mol Cell Endocrinol. 2010 Jun 30;322(1-2):72-82. doi: 10.1016/j.mce.2010.01.008. Epub 2010 Jan 18. Mol Cell Endocrinol. 2010. PMID: 20083154 Review.
Recurrent EZH1 mutations are a second hit in autonomous thyroid adenomas.
Calebiro D, Grassi ES, Eszlinger M, Ronchi CL, Godbole A, Bathon K, Guizzardi F, de Filippis T, Krohn K, Jaeschke H, Schwarzmayr T, Bircan R, Gozu HI, Sancak S, Niedziela M, Strom TM, Fassnacht M, Persani L, Paschke R. Calebiro D, et al. Among authors: de filippis t. J Clin Invest. 2016 Sep 1;126(9):3383-8. doi: 10.1172/JCI84894. Epub 2016 Aug 8. J Clin Invest. 2016. PMID: 27500488 Free PMC article.
JAG1 Loss-Of-Function Variations as a Novel Predisposing Event in the Pathogenesis of Congenital Thyroid Defects.
de Filippis T, Marelli F, Nebbia G, Porazzi P, Corbetta S, Fugazzola L, Gastaldi R, Vigone MC, Biffanti R, Frizziero D, Mandarà L, Prontera P, Salerno M, Maghnie M, Tiso N, Radetti G, Weber G, Persani L. de Filippis T, et al. J Clin Endocrinol Metab. 2016 Mar;101(3):861-70. doi: 10.1210/jc.2015-3403. Epub 2016 Jan 13. J Clin Endocrinol Metab. 2016. PMID: 26760175 Free article.
Novel NKX2-1 Frameshift Mutations in Patients with Atypical Phenotypes of the Brain-Lung-Thyroid Syndrome.
de Filippis T, Marelli F, Vigone MC, Di Frenna M, Weber G, Persani L. de Filippis T, et al. Eur Thyroid J. 2014 Dec;3(4):227-33. doi: 10.1159/000366274. Epub 2014 Oct 15. Eur Thyroid J. 2014. PMID: 25759798 Free PMC article.
Disruptions of global and JAGGED1-mediated notch signaling affect thyroid morphogenesis in the zebrafish.
Porazzi P, Marelli F, Benato F, de Filippis T, Calebiro D, Argenton F, Tiso N, Persani L. Porazzi P, et al. Among authors: de filippis t. Endocrinology. 2012 Nov;153(11):5645-58. doi: 10.1210/en.2011-1888. Epub 2012 Sep 24. Endocrinology. 2012. PMID: 23008514
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