Didona B - Search Results

1

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.

2

Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus.

Richard G, De Laurenzi V, Didona B, Bale SJ, Compton JG. Richard G, et al. Among authors: didona b. Nat Genet. 1995 Dec;11(4):453-5. doi: 10.1038/ng1295-453. Nat Genet. 1995. PMID: 7493031

3

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

4

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

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

Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.

Ashton GH, McLean WH, South AP, Oyama N, Smith FJ, Al-Suwaid R, Al-Ismaily A, Atherton DJ, Harwood CA, Leigh IM, Moss C, Didona B, Zambruno G, Patrizi A, Eady RA, McGrath JA. Ashton GH, et al. Among authors: didona b. J Invest Dermatol. 2004 Jan;122(1):78-83. doi: 10.1046/j.0022-202X.2003.22136.x. J Invest Dermatol. 2004. PMID: 14962093 Free article.

7

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

8

Treatment of severe pemphigus with rituximab: report of 12 cases and a review of the literature.

Cianchini G, Corona R, Frezzolini A, Ruffelli M, Didona B, Puddu P. Cianchini G, et al. Among authors: didona b. Arch Dermatol. 2007 Aug;143(8):1033-8. doi: 10.1001/archderm.143.8.1033. Arch Dermatol. 2007. PMID: 17709662 Review.

9

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.

10

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

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