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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: gelmini g. Hum Mol Genet. 2017 Jul 1;26(13):2507-2514. doi: 10.1093/hmg/ddx145. Hum Mol Genet. 2017. PMID: 28444304 Free article.
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: gelmini g. 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.
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: gelmini g. Clin Endocrinol (Oxf). 2017 Nov;87(5):587-596. doi: 10.1111/cen.13387. Epub 2017 Jul 6. Clin Endocrinol (Oxf). 2017. PMID: 28561265
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: gelmini g. J Clin Endocrinol Metab. 2019 Dec 1;104(12):5765-5779. doi: 10.1210/jc.2019-00900. J Clin Endocrinol Metab. 2019. PMID: 31287502
Syndromes of resistance to TSH.
Persani L, Gelmini G, Marelli F, Beck-Peccoz P, Bonomi M. Persani L, et al. Among authors: gelmini g. Ann Endocrinol (Paris). 2011 Apr;72(2):60-3. doi: 10.1016/j.ando.2011.03.007. Epub 2011 Apr 21. Ann Endocrinol (Paris). 2011. PMID: 21513912 Review.
Frequent TSH receptor genetic alterations with variable signaling impairment in a large series of children with nonautoimmune isolated hyperthyrotropinemia.
Calebiro D, Gelmini G, Cordella D, Bonomi M, Winkler F, Biebermann H, de Marco A, Marelli F, Libri DV, Antonica F, Vigone MC, Cappa M, Mian C, Sartorio A, Beck-Peccoz P, Radetti G, Weber G, Persani L. Calebiro D, et al. Among authors: gelmini g. J Clin Endocrinol Metab. 2012 Jan;97(1):E156-60. doi: 10.1210/jc.2011-1938. Epub 2011 Nov 2. J Clin Endocrinol Metab. 2012. PMID: 22049173
Loss-of-Function Variants in a Hungarian Cohort Reveal Structural Insights on TSH Receptor Maturation and Signaling.
Lábadi Á, Grassi ES, Gellén B, Kleinau G, Biebermann H, Ruzsa B, Gelmini G, Rideg O, Miseta A, Kovács GL, Patócs A, Felszeghy E, Nagy EV, Mezősi E, Persani L. Lábadi Á, et al. Among authors: gelmini g. J Clin Endocrinol Metab. 2015 Jul;100(7):E1039-45. doi: 10.1210/jc.2014-4511. Epub 2015 May 15. J Clin Endocrinol Metab. 2015. PMID: 25978107
Role of Epigenetic Therapy in the Modulation of Tumor Growth and Migration in Human Castration-Resistant Prostate Cancer Cells with Neuroendocrine Differentiation.
Dicitore A, Bacalini MG, Saronni D, Gaudenzi G, Cantone MC, Gelmini G, Grassi ES, Gentilini D, Borghi MO, Di Blasio AM, Persani L, Garagnani P, Franceschi C, Vitale G. Dicitore A, et al. Among authors: gelmini g. Neuroendocrinology. 2022;112(6):580-594. doi: 10.1159/000518801. Epub 2021 Aug 2. Neuroendocrinology. 2022. PMID: 34348348 Free article.
77 results