Detalhe da pesquisa
1.
AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.
Genes Chromosomes Cancer
; 62(4): 210-222, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36502525
2.
Germline POT1 mutation and neuroblastoma: A mere coincidence or true association.
Pediatr Blood Cancer
; 71(7): e31054, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38706191
3.
From variant of unknown significance to likely pathogenic: Characterization and pathogenicity determination of a large genomic deletion in the MLH1 gene.
Mol Genet Genomic Med
; 11(9): e2231, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37350751
4.
A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome.
Fam Cancer
; 22(3): 303-306, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36445599
5.
A novel POLD1 pathogenic variant identified in two families with a cancer spectrum mimicking Lynch syndrome.
Eur J Med Genet
; 65(2): 104409, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34954152
6.
Transformation of a low-grade follicular lymphoma into a composite lymphoma combining a high-grade B-cell lymphoma and a lymphoblastic neoplasm expressing Terminal deoxynucleotidyl Transferase: a case report.
J Med Case Rep
; 14(1): 117, 2020 Jul 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32713346
7.
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.
Nat Commun
; 9(1): 686, 2018 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29449551