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51 results

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Page 1
ITGB4-mutated Junctional Epidermolysis Bullosa without Pyloric Atresia Presenting with Severe Urinary Involvement and Late-onset Minimal Skin Fragility: Diagnostic and Therapeutic Challenges.
Mattioli G, Diociaiuti A, Rossi S, Zambruno G, Carlucci M, Pisaneschi E, El Hachem M. Mattioli G, et al. Among authors: pisaneschi e. Acta Derm Venereol. 2022 May 10;102:adv00706. doi: 10.2340/actadv.v102.935. Acta Derm Venereol. 2022. PMID: 35312019 Free PMC article. No abstract available.
A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing.
Covaciu C, Grosso F, Pisaneschi E, Zambruno G, Gregersen PA, Sommerlund M, Hertz JM, Castiglia D. Covaciu C, et al. Among authors: pisaneschi e. Br J Dermatol. 2011 Sep;165(3):678-82. doi: 10.1111/j.1365-2133.2011.10414.x. Epub 2011 Jul 28. Br J Dermatol. 2011. PMID: 21574979
Teledermatology diagnosis of the first Italian patient affected with restrictive dermopathy due to ZMPSTE24 homozygous mutation.
Diociaiuti A, D'Amico P, Pisaneschi E, Giancristoforo S, Pappalardo MG, Di Guardo V, Zambruno G, El Hachem M. Diociaiuti A, et al. Among authors: pisaneschi e. J Eur Acad Dermatol Venereol. 2019 Mar;33(3):e139-e140. doi: 10.1111/jdv.15351. Epub 2018 Dec 7. J Eur Acad Dermatol Venereol. 2019. PMID: 30461078 No abstract available.
Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene.
Diociaiuti A, Angioni A, Pisaneschi E, Margollicci M, Boldrini R, Alesi V, Novelli A, Zambruno G, El Hachem M. Diociaiuti A, et al. Among authors: pisaneschi e. Acta Derm Venereol. 2019 Jul 1;99(9):828-830. doi: 10.2340/00015555-3162. Acta Derm Venereol. 2019. PMID: 30834456 Free article. No abstract available.
Angioma serpiginosum: a case report and review of the literature.
Diociaiuti A, Cutrone M, Rotunno R, De Vito R, Neri I, Pisaneschi E, El Hachem M. Diociaiuti A, et al. Among authors: pisaneschi e. Ital J Pediatr. 2019 Apr 27;45(1):53. doi: 10.1186/s13052-019-0644-8. Ital J Pediatr. 2019. PMID: 31029177 Free PMC article. Review.
Novel clinical features associated with Clouston syndrome.
Cammarata-Scalisi F, Rinelli M, Pisaneschi E, Diociaiuti A, Willoughby CE, Avendaño A, Digilio MC, Novelli A, Callea M. Cammarata-Scalisi F, et al. Among authors: pisaneschi e. Int J Dermatol. 2019 Aug;58(8):e143-e146. doi: 10.1111/ijd.14507. Epub 2019 Jun 5. Int J Dermatol. 2019. PMID: 31165482 No abstract available.
51 results