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Partial Loss of Function ABCA12 Mutations Generate Reduced Deposition of Glucosyl-Ceramide, Leading to Patchy Ichthyosis and Erythrodermia Resembling Erythrokeratodermia Variabilis et Progressiva (EKVP).
Terrinoni A, Sala G, Bruno E, Pitolli C, Minieri M, Pieri M, Gambacurta A, Campione E, Belardi R, Bernardini S. Terrinoni A, et al. Among authors: campione e. Int J Mol Sci. 2023 Sep 11;24(18):13962. doi: 10.3390/ijms241813962. Int J Mol Sci. 2023. PMID: 37762265 Free PMC article.
Type I lamellar ichthyosis improved by tazarotene 0.1% gel.
Marulli GC, Campione E, Chimenti MS, Terrinoni A, Melino G, Bianchi L. Marulli GC, et al. Among authors: campione e. Clin Exp Dermatol. 2003 Jul;28(4):391-3. doi: 10.1046/j.1365-2230.2003.01318.x. Clin Exp Dermatol. 2003. PMID: 12823301
Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss.
Terrinoni A, Codispoti A, Serra V, Bruno E, Didona B, Paradisi M, Nisticò S, Campione E, Napolitano B, Diluvio L, Melino G. Terrinoni A, et al. Among authors: campione e. Biochem Biophys Res Commun. 2010 Apr 23;395(1):25-30. doi: 10.1016/j.bbrc.2010.03.098. Epub 2010 Mar 20. Biochem Biophys Res Commun. 2010. PMID: 20307501
Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis.
Terrinoni A, Serra V, Codispoti A, Talamonti E, Bui L, Palombo R, Sette M, Campione E, Didona B, Annicchiarico-Petruzzelli M, Zambruno G, Melino G, Candi E. Terrinoni A, et al. Among authors: campione e. Cell Death Dis. 2012 Oct 25;3(10):e416. doi: 10.1038/cddis.2012.152. Cell Death Dis. 2012. PMID: 23096117 Free PMC article.
245 results