Tomaiuolo AC - Search Results

1

A De Novo CaSR Missense Variant in Combination with Two Inherited Missense Variants in CFTR and SPINK1 Detected in a Patient with Chronic Pancreatitis.

Bontempo P, Surace C, Menale L, Alicata C, D'Elia G, Tomaiuolo AC, Minervino D, Lorefice E, Novelli A. Bontempo P, et al. Among authors: tomaiuolo ac. Biomedicines. 2024 Jun 9;12(6):1278. doi: 10.3390/biomedicines12061278. Biomedicines. 2024. PMID: 38927485 Free PMC article.

2

Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis.

Sofia VM, Surace C, Terlizzi V, Da Sacco L, Alghisi F, Angiolillo A, Braggion C, Cirilli N, Colombo C, Di Lullo A, Padoan R, Quattrucci S, Raia V, Tuccio G, Zarrilli F, Tomaiuolo AC, Novelli A, Lucidi V, Lucarelli M, Castaldo G, Angioni A. Sofia VM, et al. Among authors: tomaiuolo ac. Mol Med. 2018 Jul 27;24(1):38. doi: 10.1186/s10020-018-0041-6. Mol Med. 2018. PMID: 30134826 Free PMC article.

3

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: tomaiuolo ac. 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.

4

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

5

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. 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.

6

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. 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

7

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: tomaiuolo ac. 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.

8

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. Clin Invest Med. 2010 Aug 1;33(4):E234-9. doi: 10.25011/cim.v33i4.14226. Clin Invest Med. 2010. PMID: 20691141

9

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: tomaiuolo ac. Clin Genet. 2009 Sep;76(3):256-62. doi: 10.1111/j.1399-0004.2009.01203.x. Clin Genet. 2009. PMID: 19793054

10

Phenotypic variability in a family with pancreatitis and cystic fibrosis sharing common mild CFTR mutation: report on CFTR mutations and their phenotypic variability.

Alghisi F, Bella S, Lucidi V, Angioni A, Tomaiuolo AC, D'Apice MR, Gambardella S, Novelli G. Alghisi F, et al. Among authors: tomaiuolo ac. Pancreas. 2009 Jan;38(1):109-10. doi: 10.1097/MPA.0b013e3181671b9c. Pancreas. 2009. PMID: 19106752 No abstract available.

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