Detalhe da pesquisa
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-38160042
2.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-37240284
3.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-34515093
4.
Preferences of Italian patients for return of secondary findings from clinical genome/exome sequencing.
J Genet Couns
; 30(3): 665-675, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33142017
5.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-27829682
6.
The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population.
Biomedicines
; 11(3)2023 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36979683
7.
Characterization of BRCA Deficiency in Ovarian Cancer.
Cancers (Basel)
; 15(5)2023 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36900320
8.
Local mortality estimates during the COVID-19 pandemic in Italy.
J Popul Econ
; 34(4): 1189-1217, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34177122
9.
Clinical histopathological features and CDKN2A/CDK4/MITF mutational status of patients with multiple primary melanomas from Bologna: Italy is a fascinating but complex mosaic.
Ital J Dermatol Venerol
; 156(5): 599-605, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32221274
10.
Colorectal polyposis as a clue to the diagnosis of Cowden syndrome: Report of two cases and literature review.
Pathol Res Pract
; 218: 153339, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33482532
11.
PTEN Hamartoma Tumor Syndrome: Skin Manifestations and Insights Into Their Molecular Pathogenesis.
Front Med (Lausanne)
; 8: 688105, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34386506
12.
Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia.
Mov Disord
; 25(9): 1269-73, 2010 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20629122
13.
Abnormalities of insulin-like growth factor-I signaling and impaired cell proliferation in osteoblasts from subjects with osteoporosis.
Endocrinology
; 149(3): 1302-13, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18079194
14.
Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help?
Front Genet
; 9: 378, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30254663
15.
miR-155 Is Downregulated in Familial Adenomatous Polyposis and Modulates WNT Signaling by Targeting AXIN1 and TCF4.
Mol Cancer Res
; 16(12): 1965-1976, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30072583
16.
Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients.
Eur J Hum Genet
; 26(3): 387-395, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29367705
17.
A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation.
Prenat Diagn
; 32(3): 296-8, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22430731
18.
BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype.
Oncotarget
; 8(14): 22640-22648, 2017 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28186987
19.
Role of UBC9 in the regulation of the adipogenic program in 3T3-L1 adipocytes.
Endocrinology
; 151(11): 5255-66, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20881252