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High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional studies of the mutated SLC26A4 protein.
Fugazzola L, Cirello V, Dossena S, Rodighiero S, Muzza M, Castorina P, Lalatta F, Ambrosetti U, Beck-Peccoz P, Bottà G, Paulmichl M. Fugazzola L, et al. Eur J Endocrinol. 2007 Sep;157(3):331-8. doi: 10.1530/EJE-07-0263. Eur J Endocrinol. 2007. PMID: 17766716
Functional characterization of wild-type and a mutated form of SLC26A4 identified in a patient with Pendred syndrome.
Dossena S, Vezzoli V, Cerutti N, Bazzini C, Tosco M, Sironi C, Rodighiero S, Meyer G, Fascio U, Fürst J, Ritter M, Fugazzola L, Persani L, Zorowka P, Storelli C, Beck-Peccoz P, Bottà G, Paulmichl M. Dossena S, et al. Cell Physiol Biochem. 2006;17(5-6):245-56. doi: 10.1159/000094137. Epub 2006 Jun 20. Cell Physiol Biochem. 2006. PMID: 16791000 Free article.
Fast fluorometric method for measuring pendrin (SLC26A4) Cl-/I- transport activity.
Dossena S, Rodighiero S, Vezzoli V, Bazzini C, Sironi C, Meyer G, Fürst J, Ritter M, Garavaglia ML, Fugazzola L, Persani L, Zorowka P, Storelli C, Beck-Peccoz P, Bottá G, Paulmichl M. Dossena S, et al. Cell Physiol Biochem. 2006;18(1-3):67-74. doi: 10.1159/000095164. Epub 2006 Aug 15. Cell Physiol Biochem. 2006. PMID: 16914891 Free article.
The role of pendrin in iodide regulation.
Fugazzola L, Cerutti N, Mannavola D, Vannucchi G, Beck-Peccoz P. Fugazzola L, et al. Exp Clin Endocrinol Diabetes. 2001;109(1):18-22. doi: 10.1055/s-2001-11008. Exp Clin Endocrinol Diabetes. 2001. PMID: 11573133 Review.
Microchimerism and endocrine disorders.
Fugazzola L, Cirello V, Beck-Peccoz P. Fugazzola L, et al. J Clin Endocrinol Metab. 2012 May;97(5):1452-61. doi: 10.1210/jc.2011-3160. Epub 2012 Mar 7. J Clin Endocrinol Metab. 2012. PMID: 22399520 Review.
479 results