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.
New clinical features in an adult patient with Skraban-Deardorff syndrome.
Am J Med Genet A
; 191(1): 306-309, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36269129
3.
Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5).
Am J Med Genet A
; 185(2): 608-613, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33296143
4.
Long read sequencing on its way to the routine diagnostics of genetic diseases.
Front Genet
; 15: 1374860, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38510277
5.
Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum.
JCO Precis Oncol
; 8: e2300453, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38412388
6.
Factors predicting BRCA1/2 pathogenic variants in patients with ovarian cancer: a systematic review with meta-analysis.
J Clin Pathol
; 76(8): 510-517, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37221047
7.
Cascade testing in Italian Hereditary Breast Ovarian Cancer families: a missed opportunity for cancer prevention?
Fam Cancer
; 2023 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37968543
8.
Characterization of BRCA Deficiency in Ovarian Cancer.
Cancers (Basel)
; 15(5)2023 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36900320
9.
Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome.
J Natl Cancer Inst
; 115(1): 93-103, 2023 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36171661
10.
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
11.
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
12.
RASAL1 and ROS1 Gene Variants in Hereditary Breast Cancer.
Cancers (Basel)
; 12(9)2020 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32906649
13.
Results and Clinical Interpretation of Germline RET Analysis in a Series of Patients with Medullary Thyroid Carcinoma: The Challenge of the Variants of Uncertain Significance.
Cancers (Basel)
; 12(11)2020 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33167350