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Calculation of cut-off values based on the Autoimmune Bullous Skin Disorder Intensity Score (ABSIS) and Pemphigus Disease Area Index (PDAI) pemphigus scoring systems for defining moderate, significant and extensive types of pemphigus.
Boulard C, Duvert Lehembre S, Picard-Dahan C, Kern JS, Zambruno G, Feliciani C, Marinovic B, Vabres P, Borradori L, Prost-Squarcioni C, Labeille B, Richard MA, Ingen-Housz-Oro S, Houivet E, Werth VP, Murrell DF, Hertl M, Benichou J, Joly P; International Pemphigus Study Group. Boulard C, et al. Br J Dermatol. 2016 Jul;175(1):142-9. doi: 10.1111/bjd.14405. Epub 2016 Apr 3. Br J Dermatol. 2016. PMID: 26800395 Free article.
An SRY-negative XX male with Huriez syndrome.
Vernole P, Terrinoni A, Didona B, De Laurenzi V, Rossi P, Melino G, Grimaldi P. Vernole P, et al. Among authors: didona b. Clin Genet. 2000 Jan;57(1):61-6. doi: 10.1034/j.1399-0004.2000.570109.x. Clin Genet. 2000. PMID: 10733237
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: didona b. 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: didona b. Cell Death Dis. 2012 Oct 25;3(10):e416. doi: 10.1038/cddis.2012.152. Cell Death Dis. 2012. PMID: 23096117 Free PMC article.
121 results