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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: rurale g. 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.
Thyroid Hormone Hyposensitivity: From Genotype to Phenotype and Back.
Rurale G, Di Cicco E, Dentice M, Salvatore D, Persani L, Marelli F, Luongo C. Rurale G, et al. Front Endocrinol (Lausanne). 2020 Jan 24;10:912. doi: 10.3389/fendo.2019.00912. eCollection 2019. Front Endocrinol (Lausanne). 2020. PMID: 32038483 Free PMC article. Review.
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: rurale g. 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.
The length of FOXE1 polyalanine tract in congenital hypothyroidism: Evidence for a pathogenic role from familial, molecular and cohort studies.
Grassi ES, Rurale G, de Filippis T, Gentilini D, Carbone E, Coscia F, Uraghi S, Bullock M, Clifton-Bligh RJ, Gupta AK, Persani L. Grassi ES, et al. Among authors: rurale g. Front Endocrinol (Lausanne). 2023 Mar 16;14:1127312. doi: 10.3389/fendo.2023.1127312. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37008944 Free PMC article.