Pisaneschi E - Search Results

1

Immunofluorescence mapping, electron microscopy and genetics in the diagnosis and sub-classification of inherited epidermolysis bullosa: a single-centre retrospective comparative study of 87 cases with long-term follow-up.

Rossi S, Castiglia D, Pisaneschi E, Diociaiuti A, Stracuzzi A, Cesario C, Mariani R, Floriddia G, Zambruno G, Boldrini R, Abeni D, Novelli A, Alaggio R, El Hachem M. Rossi S, et al. Among authors: pisaneschi e. J Eur Acad Dermatol Venereol. 2021 Apr;35(4):1007-1016. doi: 10.1111/jdv.17060. Epub 2021 Feb 5. J Eur Acad Dermatol Venereol. 2021. PMID: 33274474

2

Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa.

Castori M, Floriddia G, Pisaneschi E, Covaciu C, Paradisi M, Torrente I, Castiglia D. Castori M, et al. Among authors: pisaneschi e. J Dermatol Sci. 2008 Jul;51(1):58-61. doi: 10.1016/j.jdermsci.2008.02.006. Epub 2008 Apr 1. J Dermatol Sci. 2008. PMID: 18387282 No abstract available.

3

Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis.

Castiglia D, Castori M, Pisaneschi E, Sommi M, Covaciu C, Zambruno G, Fischer J, Magnani C. Castiglia D, et al. Among authors: pisaneschi e. Clin Genet. 2009 Oct;76(4):392-7. doi: 10.1111/j.1399-0004.2009.01198.x. Epub 2009 Aug 3. Clin Genet. 2009. PMID: 19664001

4

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

5

Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.

Diociaiuti A, El Hachem M, Pisaneschi E, Giancristoforo S, Genovese S, Sirleto P, Boldrini R, Angioni A. Diociaiuti A, et al. Among authors: pisaneschi e. Orphanet J Rare Dis. 2016 Jan 13;11:4. doi: 10.1186/s13023-016-0384-4. Orphanet J Rare Dis. 2016. PMID: 26762237 Free PMC article.

6

Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency.

Bizzarri C, Pisaneschi E, Mucciolo M, Pedicelli S, Galeazzi D, Novelli A, Cappa M. Bizzarri C, et al. Among authors: pisaneschi e. Ital J Pediatr. 2017 Jun 20;43(1):57. doi: 10.1186/s13052-017-0371-y. Ital J Pediatr. 2017. PMID: 28637490 Free PMC article.

7

Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis.

Diociaiuti A, Pisaneschi E, Zambruno G, Angioni A, Novelli A, Boldrini R, El Hachem M. Diociaiuti A, et al. Among authors: pisaneschi e. J Eur Acad Dermatol Venereol. 2018 Mar;32(3):e110-e112. doi: 10.1111/jdv.14618. Epub 2017 Oct 27. J Eur Acad Dermatol Venereol. 2018. PMID: 28983987 No abstract available.

8

X-linked ichthyosis: Clinical and molecular findings in 35 Italian patients.

Diociaiuti A, Angioni A, Pisaneschi E, Alesi V, Zambruno G, Novelli A, El Hachem M. Diociaiuti A, et al. Among authors: pisaneschi e. Exp Dermatol. 2019 Oct;28(10):1156-1163. doi: 10.1111/exd.13667. Epub 2018 Jul 2. Exp Dermatol. 2019. PMID: 29672931

9

Ichthyosis Prematurity Syndrome due to a Novel SLC27A4 Homozygous Mutation in an Italian Patient.

Diociaiuti A, Rosati E, Paglietti MG, Vacca P, Boldrini R, Pisaneschi E, Castiglia D, Novelli A, El Hachem M. Diociaiuti A, et al. Among authors: pisaneschi e. Acta Derm Venereol. 2018 Aug 29;98(8):803-804. doi: 10.2340/00015555-2957. Acta Derm Venereol. 2018. PMID: 29701233 Free article. No abstract available.

10

Next-Generation Sequencing Identifies Different Genetic Defects in 2 Patients with Primary Adrenal Insufficiency and Gonadotropin-Independent Precocious Puberty.

Guzzetti C, Bizzarri C, Pisaneschi E, Mucciolo M, Bellacchio E, Ibba A, Casula L, Novelli A, Loche S, Cappa M. Guzzetti C, et al. Among authors: pisaneschi e. Horm Res Paediatr. 2018;90(3):203-211. doi: 10.1159/000492496. Epub 2018 Sep 4. Horm Res Paediatr. 2018. PMID: 30179867

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