Detalhe da pesquisa
1.
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
2.
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Nucleic Acids Res
; 46(15): 7913-7923, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29750258
3.
Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome.
J Med Genet
; 55(3): 173-180, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29070607
4.
Multiple basal cell carcinomas revealing a biallelic MUTYH gene mutation in a 39-year-old male patient.
J Eur Acad Dermatol Venereol
; 37(3): e327-e329, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36151995
5.
Combined tumor genomic profiling and exome sequencing in a breast cancer family implicates ATM in tumorigenesis: A proof of principle study.
Genes Chromosomes Cancer
; 56(11): 788-799, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28691344
6.
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Nucleic Acids Res
; 48(3): 1600-1601, 2020 02 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31863589
7.
BRCA Share: A Collection of Clinical BRCA Gene Variants.
Hum Mutat
; 37(12): 1318-1328, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27633797
8.
Clinical, pathological, and molecular data on desmoplastic/nodular medulloblastoma: case studies and a review of the literature.
Clin Neuropathol
; 35(3): 106-13, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26857864
9.
Corrigendum: Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Nucleic Acids Res
; 46(21): 11656-11657, 2018 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-30321405
10.
Validation of a yeast functional assay for p53 mutations using clonal sequencing.
J Pathol
; 231(4): 441-8, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23897043
11.
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.
J Med Genet
; 50(4): 255-63, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23335809
12.
Comprehensive analysis of PTEN status in breast carcinomas.
Int J Cancer
; 133(2): 323-34, 2013 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23319441
13.
Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature.
BMC Med Genomics
; 16(1): 166, 2023 07 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37442961
14.
Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease.
Eur J Cancer
; 179: 76-86, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36509001
15.
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
16.
Alterations of the p53 and PIK3CA/AKT/mTOR pathways in angiosarcomas: a pattern distinct from other sarcomas with complex genomics.
Cancer
; 118(23): 5878-87, 2012 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22648906
17.
PTEN alterations in sporadic and BRCA1-associated triple negative breast carcinomas.
Cancer Genet
; 264-265: 8-15, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35263698
18.
Prostate cancer and PARP inhibitors: progress and challenges.
J Hematol Oncol
; 14(1): 51, 2021 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33781305
19.
Concordance Between Tumor and Germline BRCA Status in High-Grade Ovarian Carcinoma Patients in the Phase III PAOLA-1/ENGOT-ov25 Trial.
J Natl Cancer Inst
; 113(7): 917-923, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33372675
20.
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