Angioni A - 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: angioni a. 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

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: angioni a. Exp Dermatol. 2019 Oct;28(10):1156-1163. doi: 10.1111/exd.13667. Epub 2018 Jul 2. Exp Dermatol. 2019. PMID: 29672931

3

Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome.

Roberti MC, Surace C, Digilio MC, D'Elia G, Sirleto P, Capolino R, Lombardo A, Tomaiuolo AC, Petrocchi S, Angioni A. Roberti MC, et al. Among authors: angioni a. Orphanet J Rare Dis. 2011 Apr 19;6:17. doi: 10.1186/1750-1172-6-17. Orphanet J Rare Dis. 2011. PMID: 21504564 Free PMC article.

4

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: angioni a. BMC Med Genet. 2014 Jan 23;15:14. doi: 10.1186/1471-2350-15-14. BMC Med Genet. 2014. PMID: 24451042 Free PMC article.

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. Among authors: angioni a. 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

Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma.

Grotta S, D'Elia G, Scavelli R, Genovese S, Surace C, Sirleto P, Cozza R, Romanzo A, De Ioris MA, Valente P, Tomaiuolo AC, Lepri FR, Franchin T, Ciocca L, Russo S, Locatelli F, Angioni A. Grotta S, et al. Among authors: angioni a. BMC Cancer. 2015 Nov 4;15:841. doi: 10.1186/s12885-015-1854-0. BMC Cancer. 2015. PMID: 26530098 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: angioni a. 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

Two novel cases of trilateral retinoblastoma: genetics and review of the literature.

D'Elia G, Grotta S, Del Bufalo F, De Ioris MA, Surace C, Sirleto P, Romanzo A, Cozza R, Locatelli F, Angioni A. D'Elia G, et al. Among authors: angioni a. Cancer Genet. 2013 Nov;206(11):398-401. doi: 10.1016/j.cancergen.2013.11.001. Epub 2013 Nov 19. Cancer Genet. 2013. PMID: 24412019 Review.

9

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: angioni a. 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.

10

High-resolution array CGH profiling identifies Na/K transporting ATPase interacting 2 (NKAIN2) as a predisposing candidate gene in neuroblastoma.

Romania P, Castellano A, Surace C, Citti A, De Ioris MA, Sirleto P, De Mariano M, Longo L, Boldrini R, Angioni A, Locatelli F, Fruci D. Romania P, et al. Among authors: angioni a. PLoS One. 2013 Oct 25;8(10):e78481. doi: 10.1371/journal.pone.0078481. eCollection 2013. PLoS One. 2013. PMID: 24205241 Free PMC article.

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