Didona B - Search Results

1

Cutaneous mosaicism, in KRT1 pI479T patient, caused by the somatic loss of the wild-type allele, leads to the increase in local severity of the disease.

Palombo R, Giannella E, Didona B, Annicchiarico-Petruzzelli M, Melino G, Terrinoni A. Palombo R, et al. Among authors: didona b. J Eur Acad Dermatol Venereol. 2016 May;30(5):847-51. doi: 10.1111/jdv.13153. Epub 2015 Apr 22. J Eur Acad Dermatol Venereol. 2016. PMID: 25904304

2

Bleomycin-induced chromosome aberrations in lymphocytes derived from patients with lamellar ichthyosis.

Vernole P, Tullio A, Caporossi D, Didona B, Melino G, Tedeschi B. Vernole P, et al. Among authors: didona b. Cancer Genet Cytogenet. 1999 Jan 15;108(2):154-7. doi: 10.1016/s0165-4608(98)00136-8. Cancer Genet Cytogenet. 1999. PMID: 9973945

3

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

4

A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus.

Terrinoni A, Puddu P, Didona B, De Laurenzi V, Candi E, Smith FJ, McLean WH, Melino G. Terrinoni A, et al. Among authors: didona b. J Invest Dermatol. 2000 Jun;114(6):1136-40. doi: 10.1046/j.1523-1747.2000.00983.x. J Invest Dermatol. 2000. PMID: 10844556 Free article.

5

Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.

Terrinoni A, Smith FJ, Didona B, Canzona F, Paradisi M, Huber M, Hohl D, David A, Verloes A, Leigh IM, Munro CS, Melino G, McLean WH. Terrinoni A, et al. Among authors: didona b. J Invest Dermatol. 2001 Dec;117(6):1391-6. doi: 10.1046/j.0022-202x.2001.01565.x. J Invest Dermatol. 2001. PMID: 11886499 Free article.

6

Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene.

Terron-Kwiatkowski A, Terrinoni A, Didona B, Melino G, Atherton DJ, Irvine AD, McLean WH. Terron-Kwiatkowski A, et al. Among authors: didona b. Br J Dermatol. 2004 Jun;150(6):1096-103. doi: 10.1111/j.1365-2133.2004.05967.x. Br J Dermatol. 2004. PMID: 15214894

7

Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome.

Didona B, Codispoti A, Bertini E, Rizzo WB, Carney G, Zambruno G, Dionisi-Vici C, Paradisi M, Pedicelli C, Melino G, Terrinoni A. Didona B, et al. J Hum Genet. 2007;52(10):865-870. doi: 10.1007/s10038-007-0180-z. J Hum Genet. 2007. PMID: 17902024 Free PMC article.

8

Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation.

Terrinoni A, Codispoti A, Serra V, Didona B, Bruno E, Nisticò R, Giustizieri M, Alessandrini M, Campione E, Melino G. Terrinoni A, et al. Among authors: didona b. Biochem Biophys Res Commun. 2010 Apr 16;394(4):909-14. doi: 10.1016/j.bbrc.2010.03.073. Epub 2010 Mar 15. Biochem Biophys Res Commun. 2010. PMID: 20230788

9

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

10

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.

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