Detalhe da pesquisa
1.
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Hum Mutat
; 43(12): 2308-2323, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36273432
2.
Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants.
BMC Genomics
; 21(1): 86, 2020 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31992191
3.
Mutation analysis of PALB2 gene in French breast cancer families.
Breast Cancer Res Treat
; 154(3): 463-71, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26564480
4.
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
5.
5' Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints.
Cancers (Basel)
; 13(13)2021 Jun 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34202044
6.
Functional interaction between poly(ADP-Ribose) polymerase 2 (PARP-2) and TRF2: PARP activity negatively regulates TRF2.
Mol Cell Biol
; 24(4): 1595-607, 2004 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-14749375
7.
Poly(ADP-ribose) polymerase-2 (PARP-2) is required for efficient base excision DNA repair in association with PARP-1 and XRCC1.
J Biol Chem
; 277(25): 23028-36, 2002 Jun 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-11948190