Sirleto P - Search Results

1

Lyonization effects of the t(X;16) translocation on the phenotypic expression in a rare female with Menkes disease.

Sirleto P, Surace C, Santos H, Bertini E, Tomaiuolo AC, Lombardo A, Boenzi S, Bevivino E, Dionisi-Vici C, Angioni A. Sirleto P, et al. Pediatr Res. 2009 Mar;65(3):347-51. doi: 10.1203/PDR.0b013e3181973b4e. Pediatr Res. 2009. PMID: 19092723

2

Masked complex chromosome rearrangement in a child thought to have del(8qter) as the sole cytogenetic abnormality.

Surace C, Digilio MC, Lombardo A, Sirleto P, Tomaiuolo AC, Roberti MC, Capolino R, Angioni A. Surace C, et al. Among authors: sirleto p. Cytogenet Genome Res. 2008;121(3-4):215-21. doi: 10.1159/000138888. Epub 2008 Aug 28. Cytogenet Genome Res. 2008. PMID: 18758162

3

RABGAP1L gene rearrangement resulting from a der(Y)t(Y;1)(q12;q25) in acute myeloid leukemia arising in a child with Klinefelter syndrome.

Roberti MC, La Starza R, Surace C, Sirleto P, Pinto RM, Pierini V, Crescenzi B, Mecucci C, Angioni A. Roberti MC, et al. Among authors: sirleto p. Virchows Arch. 2009 Mar;454(3):311-6. doi: 10.1007/s00428-009-0732-z. Epub 2009 Jan 28. Virchows Arch. 2009. PMID: 19184099

4

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: sirleto p. 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.

5

Characterization of a novel isolated deletion of the exon 3 within the CFTR gene: Relevance for phenotypic expression and genetic counseling.

Tomaiuolo AC, Sirleto P, Centrone C, Surace C, Alghisi F, Petrocchi S, Lombardo A, Rossi M, Torricelli F, Lucidi V, Angioni A. Tomaiuolo AC, et al. Among authors: sirleto p. Clin Biochem. 2011 Jul;44(10-11):799-803. doi: 10.1016/j.clinbiochem.2011.03.140. Epub 2011 Apr 22. Clin Biochem. 2011. PMID: 21536020

6

Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6.

Ciocca L, Surace C, Digilio MC, Roberti MC, Sirleto P, Lombardo A, Russo S, Brizi V, Grotta S, Cini C, Angioni A. Ciocca L, et al. Among authors: sirleto p. BMC Med Genomics. 2013 Feb 11;6:3. doi: 10.1186/1755-8794-6-3. BMC Med Genomics. 2013. PMID: 23398904 Free PMC article.

7

Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location.

Surace C, Piazzolla S, Sirleto P, Digilio MC, Roberti MC, Lombardo A, D'Elia G, Tomaiuolo AC, Petrocchi S, Capolino R, El Hachem M, Claps Sepulveda D, Sgura A, Angioni A. Surace C, et al. Among authors: sirleto p. Clin Genet. 2009 Sep;76(3):256-62. doi: 10.1111/j.1399-0004.2009.01203.x. Clin Genet. 2009. PMID: 19793054

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: sirleto p. 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

Hypoplastic left heart syndrome and 21q22.3 deletion.

Ciocca L, Digilio MC, Lombardo A, D'Elia G, Baban A, Capolino R, Petrocchi S, Russo S, Sirleto P, Roberti MC, Marino B, Angioni A, Dallapiccola B. Ciocca L, et al. Among authors: sirleto p. Am J Med Genet A. 2015 Mar;167A(3):579-86. doi: 10.1002/ajmg.a.36914. Epub 2015 Feb 7. Am J Med Genet A. 2015. PMID: 25663264 Review.

10

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: sirleto p. BMC Cancer. 2015 Nov 4;15:841. doi: 10.1186/s12885-015-1854-0. BMC Cancer. 2015. PMID: 26530098 Free PMC article.

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