Detalhe da pesquisa
1.
Splicing analysis of 24 potential spliceogenic variants in MMR genes and clinical interpretation based on refined ACMG/AMP criteria.
Hum Mol Genet
; 33(10): 850-859, 2024 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38311346
2.
PMS2 or PMS2CL? Characterization of variants detected in the 3' of the PMS2 gene.
Genes Chromosomes Cancer
; 63(1): e23193, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37534630
3.
Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome.
J Med Genet
; 57(7): 487-499, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31992580
4.
Dismantling papillary renal cell carcinoma classification: The heterogeneity of genetic profiles suggests several independent diseases.
Genes Chromosomes Cancer
; 54(6): 369-82, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25820192
5.
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
6.
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
7.
A diagnostic genetic test for the physical mapping of germline rearrangements in the susceptibility breast cancer genes BRCA1 and BRCA2.
Hum Mutat
; 33(6): 998-1009, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22473970
8.
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.
Hum Mutat
; 33(8): 1228-38, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22505045
9.
An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition.
BMC Med Genet
; 12: 121, 2011 Sep 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-21939546
10.
Acquired somatic MMR deficiency is a major cause of MSI tumor in patients suspected for "Lynch-like syndrome" including young patients.
Eur J Hum Genet
; 29(3): 482-488, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33279946
11.
Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome.
Hum Mutat
; 30(6): 867-75, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19224586
12.
Aberrant transcription caused by an intronic non-canonical CDH1 variant.
Fam Cancer
; 2024 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38310587
13.
Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.
Oncotarget
; 9(25): 17334-17348, 2018 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29707112
14.
A one-step prescreening for point mutations and large rearrangement in BRCA1 and BRCA2 genes using quantitative polymerase chain reaction and high-resolution melting curve analysis.
Genet Test Mol Biomarkers
; 14(5): 677-90, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20858050
15.
A missense variant within BRCA1 exon 23 causing exon skipping.
Cancer Genet Cytogenet
; 202(2): 144-6, 2010 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20875879