Detalhe da pesquisa
1.
Fluoropyrimidine-induced toxicity and DPD deficiency.. A case report of early onset, lethal capecitabine-induced toxicity and mini review of the literature. Uridine triacetate: Efficacy and safety as an antidote. Is it accessible outside USA?
J Oncol Pharm Pract
; 26(3): 747-753, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31382864
2.
Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report.
BMC Med Genet
; 20(1): 131, 2019 07 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31349801
3.
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
BMC Cancer
; 19(1): 535, 2019 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31159747
4.
Microsatellite Instability Is Insufficiently Used as a Biomarker for Lynch Syndrome Testing in Clinical Practice.
JCO Precis Oncol
; 8: e2300332, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38271656
5.
Nationwide Real-World Data of Microsatellite Instability and/or Mismatch Repair Deficiency in Cancer: Prevalence and Testing Patterns.
Diagnostics (Basel)
; 14(11)2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38893603
6.
Reclassification of Splicing Gene Variants in Hereditary Cancer: Cases Report and Literature Review.
In Vivo
; 37(4): 1432-1444, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37369490
7.
A novel deletion of exon 4 in the Ectodysplasin A gene associated with X-linked hypohidrotic ectodermal dysplasia.
Arch Oral Biol
; 150: 105689, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37001412
8.
Application of next generation sequencing in cardiology: current and future precision medicine implications.
Front Cardiovasc Med
; 10: 1202381, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37424920
9.
The Utility of NGS Analysis in Homologous Recombination Deficiency Tracking.
Diagnostics (Basel)
; 13(18)2023 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37761329
10.
Digging into the NGS Information from a Large-Scale South European Population with Metastatic/Unresectable Pancreatic Ductal Adenocarcinoma: A Real-World Genomic Depiction.
Cancers (Basel)
; 16(1)2023 Dec 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38201431
11.
Only 32.3% of Breast Cancer Families with Pathogenic Variants in Cancer Genes Utilized Cascade Genetic Testing.
Cancers (Basel)
; 15(21)2023 Oct 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37958392
12.
Copy Number Variations (CNVs) Account for 10.8% of Pathogenic Variants in Patients Referred for Hereditary Cancer Testing.
Cancer Genomics Proteomics
; 20(5): 448-455, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37643779
13.
Importance of multigene panel test in patients with consanguineous marriage and family history of breast cancer.
Oncol Lett
; 23(4): 118, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35261632
14.
Revisiting the Implications of Positive Germline Testing Results Using Multi-gene Panels in Breast Cancer Patients.
Cancer Genomics Proteomics
; 19(1): 60-78, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34949660
15.
Genetic Predisposition to Male Breast Cancer: A Case Series.
Anticancer Res
; 42(12): 5795-5801, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36456130
16.
Effects of a Novel Thiadiazole Derivative with High Anticancer Activity on Cancer Cell Immunogenic Markers: Mismatch Repair System, PD-L1 Expression, and Tumor Mutation Burden.
Pharmaceutics
; 13(6)2021 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34203761
17.
Clinical Utility of Functional RNA Analysis for the Reclassification of Splicing Gene Variants in Hereditary Cancer.
Cancer Genomics Proteomics
; 18(3): 285-294, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33893081
18.
Comprehensive tumor molecular profile analysis in clinical practice.
BMC Med Genomics
; 14(1): 105, 2021 04 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-33853586
19.
Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families.
BMC Cancer
; 10: 544, 2010 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-20937110
20.
Report of a germline double heterozygote in MSH2 and PALB2.
Mol Genet Genomic Med
; 8(10): e1242, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32853479