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.
AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides.
Hum Mutat
; 41(6): 1145-1156, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32126153
3.
Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants.
NPJ Precis Oncol
; 8(1): 119, 2024 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38789506
4.
Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis.
Biomolecules
; 12(10)2022 Sep 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36291559
5.
Array genotyping as diagnostic approach in medical genetics.
Mol Genet Genomic Med
; 10(9): e2016, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35912641
6.
Disease-related blood-based differential methylation in cystic fibrosis and its representation in lung cancer revealed a regulatory locus in PKP3 in lung epithelial cells.
Epigenetics
; 17(8): 837-860, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34415821
7.
Immunotyping of clinically divergent p.Phe508del homozygous monozygous cystic fibrosis twins.
J Cyst Fibros
; 20(1): 149-153, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32540173
8.
Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum.
Cancers (Basel)
; 11(8)2019 Jul 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-31366136