Petrocchi S - Search Results

1

Identification of a Novel Mutation in TNFAIP3 in a Family With Poly-Autoimmunity.

Rossi MN, Federici S, Uva A, Passarelli C, Celani C, Caiello I, Matteo V, Petrocchi S, Mortari EP, De Benedetti F, Prencipe G, Insalaco A. Rossi MN, et al. Among authors: petrocchi s. Front Immunol. 2022 Jan 26;13:804401. doi: 10.3389/fimmu.2022.804401. eCollection 2022. Front Immunol. 2022. PMID: 35154120 Free PMC article.

2

Clinical hallmarks and genetic polymorphisms in the CFTR gene contribute to the disclosure of the A1006E mutation.

Tomaiuolo AC, Alghisi F, Petrocchi S, Surace C, Roberti MC, Bella S, Lucidi V, Angioni A. Tomaiuolo AC, et al. Among authors: petrocchi s. Clin Invest Med. 2010 Aug 1;33(4):E234-9. doi: 10.25011/cim.v33i4.14226. Clin Invest Med. 2010. PMID: 20691141

3

NK cell effector functions in a Chédiak-Higashi patient undergoing cord blood transplantation: Effects of in vitro treatment with IL-2.

Cifaldi L, Pinto RM, Rana I, Caniglia M, Angioni A, Petrocchi S, Cancrini C, Cursi L, Palumbo G, Zingoni A, Gismondi A, Rossi P, Santoni A, Cerboni C. Cifaldi L, et al. Among authors: petrocchi s. Immunol Lett. 2016 Dec;180:46-53. doi: 10.1016/j.imlet.2016.10.009. Epub 2016 Nov 2. Immunol Lett. 2016. PMID: 27816481

4

Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis.

Sofia VM, Da Sacco L, Surace C, Tomaiuolo AC, Genovese S, Grotta S, Gnazzo M, Ciocca L, Petrocchi S, Alghisi F, Montemitro E, Martemucci L, Elce A, Lucidi V, Castaldo G, Angioni A. Sofia VM, et al. Among authors: petrocchi s. Mol Med. 2016 Sep;22:300-309. doi: 10.2119/molmed.2016.00010. Epub 2016 May 26. Mol Med. 2016. PMID: 27264265 Free PMC article.

5

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: petrocchi s. 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.

6

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: petrocchi s. 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.

7

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: petrocchi s. 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

8

Relationship between CFTR and CTRC variants and the clinical phenotype in late-onset cystic fibrosis disease with chronic pancreatitis.

Tomaiuolo AC, Sofia VM, Surace C, Majo F, Genovese S, Petrocchi S, Grotta S, Alghisi F, Lucidi V, Angioni A. Tomaiuolo AC, et al. Among authors: petrocchi s. J Mol Diagn. 2015 Mar;17(2):171-8. doi: 10.1016/j.jmoldx.2014.11.007. Epub 2015 Jan 28. J Mol Diagn. 2015. PMID: 25636364 Free article.

9

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: petrocchi s. 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.

10

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: petrocchi s. Epigenetics Chromatin. 2014 Jan 7;7(1):1. doi: 10.1186/1756-8935-7-1. Epigenetics Chromatin. 2014. PMID: 24393457 Free PMC article.

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