Terrinoni A - Search Results

1

Post Zygotic, Somatic, Deletion in KERATIN 1 V1 Domain Generates Structural Alteration of the K1/K10 Dimer, Producing a Monolateral Palmar Epidermolytic Nevus.

Caporali S, Didona B, Paradisi M, Mauriello A, Campione E, Falconi M, Iacovelli F, Minieri M, Pieri M, Bernardini S, Terrinoni A. Caporali S, et al. Among authors: terrinoni a. Int J Mol Sci. 2021 Jun 27;22(13):6901. doi: 10.3390/ijms22136901. Int J Mol Sci. 2021. PMID: 34199056 Free PMC article.

2

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: terrinoni a. Clin Genet. 2000 Jan;57(1):61-6. doi: 10.1034/j.1399-0004.2000.570109.x. Clin Genet. 2000. PMID: 10733237

3

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. 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.

4

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: terrinoni a. Clin Exp Dermatol. 2003 Jul;28(4):391-3. doi: 10.1046/j.1365-2230.2003.01318.x. Clin Exp Dermatol. 2003. PMID: 12823301

5

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: terrinoni a. Br J Dermatol. 2004 Jun;150(6):1096-103. doi: 10.1111/j.1365-2133.2004.05967.x. Br J Dermatol. 2004. PMID: 15214894

6

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. Among authors: terrinoni a. J Hum Genet. 2007;52(10):865-870. doi: 10.1007/s10038-007-0180-z. J Hum Genet. 2007. PMID: 17902024 Free PMC article.

7

Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression.

Codispoti A, Colombo E, Zocchi L, Serra V, Pertusi G, Leigheb G, Tiberio R, Bornacina G, Zuccoli R, Ramponi A, Campione E, Melino G, Terrinoni A. Codispoti A, et al. Among authors: terrinoni a. Eur J Dermatol. 2009 Mar-Apr;19(2):114-8. doi: 10.1684/ejd.2008.0575. Epub 2008 Dec 23. Eur J Dermatol. 2009. PMID: 19106041

8

Kaposi's sarcoma in a patient treated with imatinib mesylate for chronic myeloid leukemia.

Campione E, Diluvio L, Paternò EJ, Di Marcantonio D, Francesconi A, Terrinoni A, Orlandi A, Chimenti S. Campione E, et al. Among authors: terrinoni a. Clin Ther. 2009 Nov;31(11):2565-9. doi: 10.1016/j.clinthera.2009.11.018. Clin Ther. 2009. PMID: 20110001

9

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. 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

10

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. 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

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