Pisaneschi E - Search Results

1

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.

2

Telomere shortening and telomere position effect in mild ring 17 syndrome.

Surace C, Berardinelli F, Masotti A, Roberti MC, Da Sacco L, D'Elia G, Sirleto P, Digilio MC, Cusmai R, Grotta S, Petrocchi S, Hachem ME, Pisaneschi E, Ciocca L, Russo S, Lepri FR, Sgura A, Angioni A. Surace C, et al. Among authors: pisaneschi e. Epigenetics Chromatin. 2014 Jan 7;7(1):1. doi: 10.1186/1756-8935-7-1. Epigenetics Chromatin. 2014. PMID: 24393457 Free PMC article.

3

Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.

Lepri FR, Scavelli R, Digilio MC, Gnazzo M, Grotta S, Dentici ML, Pisaneschi E, Sirleto P, Capolino R, Baban A, Russo S, Franchin T, Angioni A, Dallapiccola B. Lepri FR, et al. Among authors: pisaneschi e. BMC Med Genet. 2014 Jan 23;15:14. doi: 10.1186/1471-2350-15-14. BMC Med Genet. 2014. PMID: 24451042 Free PMC article.

4

Kabuki syndrome: clinical and molecular diagnosis in the first year of life.

Dentici ML, Di Pede A, Lepri FR, Gnazzo M, Lombardi MH, Auriti C, Petrocchi S, Pisaneschi E, Bellacchio E, Capolino R, Braguglia A, Angioni A, Dotta A, Digilio MC, Dallapiccola B. Dentici ML, et al. Among authors: pisaneschi e. Arch Dis Child. 2015 Feb;100(2):158-64. doi: 10.1136/archdischild-2013-305858. Epub 2014 Oct 3. Arch Dis Child. 2015. PMID: 25281733 Review.

5

CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon.

Pisaneschi E, Sirleto P, Lepri FR, Genovese S, Dentici ML, Petrocchi S, Angioni A, Digilio MC, Dallapiccola B. Pisaneschi E, et al. BMC Med Genet. 2015 Sep 3;16:78. doi: 10.1186/s12881-015-0225-7. BMC Med Genet. 2015. PMID: 26334530 Free PMC article.

6

Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization.

Alesi V, Orlando V, Genovese S, Loddo S, Pisaneschi E, Pompili D, Surace C, Restaldi F, Digilio MC, Dallapiccola B, Dentici ML, Novelli A. Alesi V, et al. Among authors: pisaneschi e. Cytogenet Genome Res. 2017;151(4):179-185. doi: 10.1159/000475490. Epub 2017 May 6. Cytogenet Genome Res. 2017. PMID: 28478456

7

Congenital heart defects in molecularly proven Kabuki syndrome patients.

Digilio MC, Gnazzo M, Lepri F, Dentici ML, Pisaneschi E, Baban A, Passarelli C, Capolino R, Angioni A, Novelli A, Marino B, Dallapiccola B. Digilio MC, et al. Among authors: pisaneschi e. Am J Med Genet A. 2017 Nov;173(11):2912-2922. doi: 10.1002/ajmg.a.38417. Epub 2017 Sep 8. Am J Med Genet A. 2017. PMID: 28884922

8

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.

9

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

10

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.

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