Detalhe da pesquisa
1.
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.
Gastroenterology
; 164(4): 579-592.e8, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36586540
2.
A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency.
Clin Chem
; 70(5): 737-746, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531023
3.
Amplicon Sequencing Reveals Complex Infection in Infants Congenitally Infected With Trypanosoma Cruzi and Informs the Dynamics of Parasite Transmission.
J Infect Dis
; 228(6): 769-776, 2023 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37119236
4.
Lurbinectedin in patients with pretreated endometrial cancer: results from a phase 2 basket clinical trial and exploratory translational study.
Invest New Drugs
; 41(5): 677-687, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37556023
5.
A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.
Clin Chem
; 67(3): 518-533, 2021 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33280026
6.
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
J Med Genet
; 57(4): 269-273, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31494577
7.
The proteolytic activity of the paracaspase MALT1 is key in T cell activation.
Nat Immunol
; 9(3): 272-81, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18264101
8.
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
Hum Mutat
; 40(5): 649-655, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740824
9.
Redefining synchronous colorectal cancers based on tumor clonality.
Int J Cancer
; 144(7): 1596-1608, 2019 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30151896
10.
Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer.
Gastroenterology
; 154(1): 181-194.e20, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28912018
11.
An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome.
Genet Med
; 21(12): 2706-2712, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31204389
12.
Clinical and Molecular Comparative Study of Colorectal Cancer Based on Age-of-onset and Tumor Location: Two Main Criteria for Subclassifying Colorectal Cancer.
Int J Mol Sci
; 20(4)2019 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-30813366
13.
Primary constitutional MLH1 epimutations: a focal epigenetic event.
Br J Cancer
; 119(8): 978-987, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30283143
14.
Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair.
Gastroenterology
; 149(3): 563-6, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26052075
15.
DNA copy number profiling reveals different patterns of chromosomal instability within colorectal cancer according to the age of onset.
Mol Carcinog
; 55(5): 705-16, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25808986
16.
New Perspectives in Multiple Primary Colorectal Cancer: A Surgical Approach.
Digestion
; 94(2): 57-65, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27490961
17.
In situ monitoring of laser-induced periodic surface structures formation on polymer films by grazing incidence small-angle X-ray scattering.
Langmuir
; 31(13): 3973-81, 2015 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25786080
18.
Micro- and submicrostructuring thin polymer films with two and three-beam single pulse laser interference lithography.
Langmuir
; 30(29): 8973-9, 2014 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-25001526
19.
Light conditions and the evolution of the visual system in birds.
Evolution
; 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38558240
20.
A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis.
J Mol Diagn
; 26(1): 17-28, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37865290