Detalhe da pesquisa
1.
Delineating genotype and parent-of-origin effect on the phenotype in MSH6-associated Lynch syndrome.
Genes Chromosomes Cancer;
63(5): e23237, 2024 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38722212
2.
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
Am J Hum Genet;
108(12): 2368-2384, 2021 12 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34800363
3.
Intraductal Papillary Mucinous Neoplasms in High-Risk Individuals: Incidence, Growth Rate, and Malignancy Risk.
Clin Gastroenterol Hepatol;
22(1): 62-71.e7, 2024 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37031711
4.
Discordant Staining Patterns and Microsatellite Results in Tumors of MSH6 Pathogenic Variant Carriers.
Mod Pathol;
36(9): 100240, 2023 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37307877
5.
Glucose Derivative Induced Vasculopathy in Children on Chronic Peritoneal Dialysis.
Circ Res;
129(5): e102-e118, 2021 08 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34233458
6.
Bone Allograft Acid Lysates Change the Genetic Signature of Gingival Fibroblasts.
Int J Mol Sci;
24(22)2023 Nov 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38003371
7.
An 8q24 Gain in Pancreatic Juice Is a Candidate Biomarker for the Detection of Pancreatic Cancer.
Int J Mol Sci;
24(6)2023 Mar 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36982172
8.
Long-term yield of pancreatic cancer surveillance in high-risk individuals.
Gut;
71(6): 1152-1160, 2022 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33820756
9.
Identification of Activating Mutations in the Transmembrane and Extracellular Domains of EGFR.
Biochemistry;
61(19): 2049-2062, 2022 10 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36148499
10.
Universal Immunohistochemistry for Lynch Syndrome: A Systematic Review and Meta-analysis of 58,580 Colorectal Carcinomas.
Clin Gastroenterol Hepatol;
20(3): e496-e507, 2022 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33887476
11.
Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants.
J Med Genet;
58(4): 264-269, 2021 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32482799
12.
Proteome-Wide Differential Effects of Peritoneal Dialysis Fluid Properties in an In Vitro Human Endothelial Cell Model.
Int J Mol Sci;
23(14)2022 Jul 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35887356
13.
Improved Alignment and Quantification of Protein Signals in Two-Dimensional Western Blotting.
J Proteome Res;
19(6): 2379-2390, 2020 06 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32402202
14.
Yield of Lynch Syndrome Surveillance for Patients With Pathogenic Variants in DNA Mismatch Repair Genes.
Clin Gastroenterol Hepatol;
18(5): 1112-1120.e1, 2020 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31470178
15.
Effects of Alanyl-Glutamine Treatment on the Peritoneal Dialysis Effluent Proteome Reveal Pathomechanism-Associated Molecular Signatures.
Mol Cell Proteomics;
17(3): 516-532, 2018 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29208752
16.
Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.
PLoS Genet;
13(5): e1006765, 2017 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28531214
17.
Routine Molecular Analysis for Lynch Syndrome Among Adenomas or Colorectal Cancer Within a National Screening Program.
Gastroenterology;
155(5): 1410-1415, 2018 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30063919
18.
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
19.
A combinatorial screen of the CLOUD uncovers a synergy targeting the androgen receptor.
Nat Chem Biol;
13(7): 771-778, 2017 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28530711
20.
Endoscopic management of Lynch syndrome and of familial risk of colorectal cancer: European Society of Gastrointestinal Endoscopy (ESGE) Guideline.
Endoscopy;
51(11): 1082-1093, 2019 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31597170