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Clinical Consequences of Variable Results in the Measurement of Free Thyroid Hormones: Unusual Presentation of a Family with a Novel Variant in the THRB Gene Causing Resistance to Thyroid Hormone Syndrome.
Campi I, Agostini M, Marelli F, de Filippis T, Romartinez-Alonso B, Rajanayagam O, Rurale G, Gentile I, Spagnolo F, Andreasi M, Ferraù F, Cannavò S, Fugazzola L, Chatterjee KV, Persani L. Campi I, et al. Among authors: de filippis t. Eur Thyroid J. 2021 Nov;10(6):533-541. doi: 10.1159/000519748. Epub 2021 Oct 22. Eur Thyroid J. 2021. PMID: 34956926 Free PMC article.
Increased risk for non-autoimmune hypothyroidism in young patients with congenital heart defects.
Passeri E, Frigerio M, De Filippis T, Valaperta R, Capelli P, Costa E, Fugazzola L, Marelli F, Porazzi P, Arcidiacono C, Carminati M, Ambrosi B, Persani L, Corbetta S. Passeri E, et al. Among authors: de filippis t. J Clin Endocrinol Metab. 2011 Jul;96(7):E1115-9. doi: 10.1210/jc.2011-0057. Epub 2011 Apr 27. J Clin Endocrinol Metab. 2011. PMID: 21525159
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.
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 Free article.
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
35 results