Detalhe da pesquisa
1.
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.
Am J Hum Genet
; 108(10): 1907-1923, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34597585
2.
Bayesian predictive model to assess BRCA2 mutational status according to clinical history: Early onset, metastatic phenotype or family history of breast/ovary cancer.
Prostate
; 81(6): 318-325, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33599307
3.
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
4.
GATA2 gene analysis in several forms of hematological malignancies including familial aggregations.
Ann Hematol
; 96(10): 1635-1639, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28752392
5.
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
6.
Familial hematological malignancies: new IDH2 mutation.
Ann Hematol
; 95(12): 1943-1947, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27591990
7.
Mutational analysis of JAK2, CBL, RUNX1, and NPM1 genes in familial aggregation of hematological malignancies.
Ann Hematol
; 95(7): 1043-50, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27106701
8.
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
9.
Prediction of BRCA1 germ-line mutation status in patients with breast cancer using histoprognosis grade, MS110, Lys27H3, vimentin, and KI67.
Pathobiology
; 80(5): 219-27, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23614934
10.
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
11.
High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder.
Blood
; 113(22): 5583-7, 2009 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-19357396
12.
SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis.
BMC Neurol
; 11: 9, 2011 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-21255467
13.
Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP.
J Med Genet
; 47(10): 721-2, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20685668
14.
Mutational analysis of apoptotic genes in familial aggregation of hematological malignancies.
Bull Cancer
; 108(9): 798-805, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34140154
15.
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
16.
Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12.
Cancer Res
; 80(7): 1374-1386, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32046981
17.
Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System.
Cancer Res
; 80(17): 3593-3605, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32641407
18.
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
19.
Mutational analysis of TP53 gene in Tunisian familial hematological malignancies and sporadic acute leukemia cases.
Fam Cancer
; 16(1): 153-157, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27619989
20.
ARLTS1, potential candidate gene in familial aggregation of hematological malignancies.
Bull Cancer
; 104(2): 123-127, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27866680