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1.
A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy.
Curr Issues Mol Biol
; 45(3): 2422-2430, 2023 Mar 15.
Article
in English
| MEDLINE | ID: mdl-36975527
2.
A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.
Int J Mol Sci
; 17(8)2016 Jul 30.
Article
in English
| MEDLINE | ID: mdl-27483260
3.
A SMYD3 Small-Molecule Inhibitor Impairing Cancer Cell Growth.
J Cell Physiol
; 230(10): 2447-2460, 2015 Oct.
Article
in English
| MEDLINE | ID: mdl-25728514
4.
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility.
Biomedicines
; 11(7)2023 Jul 22.
Article
in English
| MEDLINE | ID: mdl-37509701
5.
Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease?
Front Cardiovasc Med
; 10: 1112759, 2023.
Article
in English
| MEDLINE | ID: mdl-37089884
6.
The role of genetic testing in suspected fulminant myocarditis: A case report.
Mol Genet Metab Rep
; 37: 101000, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37662494
7.
Somatic NGS Analysis of DNA Damage Response (DDR) Genes ATM, MRE11A, RAD50, NBN, and ATR in Locally Advanced Rectal Cancer Treated with Neoadjuvant Chemo-Radiotherapy.
Biomedicines
; 10(12)2022 Dec 13.
Article
in English
| MEDLINE | ID: mdl-36552003
8.
Genomic Breakpoints' Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer.
Diagnostics (Basel)
; 12(7)2022 Jun 22.
Article
in English
| MEDLINE | ID: mdl-35885426
9.
From Survey Results to a Decision-Making Matrix for Strategic Planning in Healthcare: The Case of Clinical Pathways.
Int J Environ Res Public Health
; 19(13)2022 06 25.
Article
in English
| MEDLINE | ID: mdl-35805466
10.
A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome.
Diagnostics (Basel)
; 12(11)2022 Nov 04.
Article
in English
| MEDLINE | ID: mdl-36359527
11.
RNA Sequencing of Primary Cutaneous and Breast-Implant Associated Anaplastic Large Cell Lymphomas Reveals Infrequent Fusion Transcripts and Upregulation of PI3K/AKT Signaling via Neurotrophin Pathway Genes.
Cancers (Basel)
; 13(24)2021 Dec 07.
Article
in English
| MEDLINE | ID: mdl-34944796
12.
TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report.
Mol Genet Metab Rep
; 27: 100743, 2021 Jun.
Article
in English
| MEDLINE | ID: mdl-33777698
13.
Beyond BRCA1 and BRCA2: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers.
J Clin Med
; 9(9)2020 Sep 17.
Article
in English
| MEDLINE | ID: mdl-32957588
14.
Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing.
J Clin Med
; 9(6)2020 May 28.
Article
in English
| MEDLINE | ID: mdl-32481709
15.
Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline.
Oncotarget
; 9(72): 33648-33655, 2018 Sep 14.
Article
in English
| MEDLINE | ID: mdl-30263092
16.
Nano-Mechanical Characterization of Ataxia Telangiectasia Cells Treated with Dexamethasone.
Cell Biochem Biophys
; 75(1): 95-102, 2017 Mar.
Article
in English
| MEDLINE | ID: mdl-27933465
17.
Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders.
J Neurol Sci
; 371: 48-53, 2016 Dec 15.
Article
in English
| MEDLINE | ID: mdl-27871447
18.
Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.
PLoS One
; 10(4): e0123092, 2015.
Article
in English
| MEDLINE | ID: mdl-25915946
19.
Loss of STK11 expression is an early event in prostate carcinogenesis and predicts therapeutic response to targeted therapy against MAPK/p38.
Autophagy
; 11(11): 2102-2113, 2015 Nov 02.
Article
in English
| MEDLINE | ID: mdl-26391455
20.
Targeted therapy against chemoresistant colorectal cancers: Inhibition of p38α modulates the effect of cisplatin in vitro and in vivo through the tumor suppressor FoxO3A.
Cancer Lett
; 344(1): 110-118, 2014 Mar 01.
Article
in English
| MEDLINE | ID: mdl-24215867