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1.
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2.
J Med Genet
; 61(5): 483-489, 2024 Apr 19.
Article
in English
| MEDLINE | ID: mdl-38160042
2.
Update of penetrance estimates in Birt-Hogg-Dubé syndrome.
J Med Genet
; 60(4): 317-326, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36849229
3.
Multi-Gene Next-Generation Sequencing Panel for Analysis of BRCA1/BRCA2 and Homologous Recombination Repair Genes Alterations Metastatic Castration-Resistant Prostate Cancer.
Int J Mol Sci
; 24(10)2023 May 18.
Article
in English
| MEDLINE | ID: mdl-37240284
4.
Chromoendoscopy Is Not Superior to White Light Endoscopy in Improving Adenoma Detection in Lynch Syndrome Cohort Undergoing Surveillance with High-Resolution Colonoscopy: A Real-World Evidence Study.
Dig Dis
; 40(4): 517-525, 2022.
Article
in English
| MEDLINE | ID: mdl-34515093
5.
Sudden shift to remote genetic counseling during the COVID-19 pandemic: Experiences of genetics professionals in Italy.
J Genet Couns
; 30(4): 1024-1037, 2021 08.
Article
in English
| MEDLINE | ID: mdl-34096134
6.
Preferences of Italian patients for return of secondary findings from clinical genome/exome sequencing.
J Genet Couns
; 30(3): 665-675, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33142017
7.
Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next?
Int J Mol Sci
; 22(11)2021 May 29.
Article
in English
| MEDLINE | ID: mdl-34072463
8.
Primary malignant pericardial tumour in Lynch syndrome.
BMC Cancer
; 20(1): 191, 2020 Mar 06.
Article
in English
| MEDLINE | ID: mdl-32143595
9.
An Analysis of Clinical, Surgical, Pathological and Molecular Characteristics of Endometrial Cancer According to Mismatch Repair Status. A Multidisciplinary Approach.
Int J Mol Sci
; 21(19)2020 Sep 29.
Article
in English
| MEDLINE | ID: mdl-33003368
10.
The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages.
Genet Med
; 21(3): 718-726, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30050101
11.
Correction: The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages.
Genet Med
; 21(7): 1669, 2019 Jul.
Article
in English
| MEDLINE | ID: mdl-30139992
12.
Population Genomic Screening for Three Common Hereditary Conditions.
Ann Intern Med
; 176(11): eL230321, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37983802
13.
Primary constitutional MLH1 epimutations: a focal epigenetic event.
Br J Cancer
; 119(8): 978-987, 2018 10.
Article
in English
| MEDLINE | ID: mdl-30283143
14.
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.
Hum Mutat
; 38(1): 64-77, 2017 01.
Article
in English
| MEDLINE | ID: mdl-27629256
15.
BRCA2 in Ovarian Development and Function.
N Engl J Med
; 380(11): 1086-1087, 2019 03 14.
Article
in English
| MEDLINE | ID: mdl-30865813
16.
Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study.
J Hum Genet
; 62(2): 309-315, 2017 Feb.
Article
in English
| MEDLINE | ID: mdl-27829682
17.
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.
Hum Mol Genet
; 23(13): 3607-17, 2014 Jul 01.
Article
in English
| MEDLINE | ID: mdl-24556213
18.
Impact of Genetic Counseling in Women with a Family History of Breast Cancer in Italy.
J Genet Couns
; 25(2): 405-11, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26354337
19.
A systematic review of interventions to provide genetics education for primary care.
BMC Fam Pract
; 17: 89, 2016 07 22.
Article
in English
| MEDLINE | ID: mdl-27445117
20.
A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer.
BMC Cancer
; 14: 70, 2014 Feb 06.
Article
in English
| MEDLINE | ID: mdl-24498881