Detalhe da pesquisa
1.
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.
Proc Natl Acad Sci U S A
; 120(9): e2102569120, 2023 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36802443
2.
Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex.
Nucleic Acids Res
; 51(2): 712-727, 2023 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36537210
3.
Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants.
Hum Mutat
; 42(11): 1488-1502, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34420246
4.
Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation.
Breast Cancer Res
; 23(1): 79, 2021 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34344426
5.
Gene- and pathway-level analyses of iCOGS variants highlight novel signaling pathways underlying familial breast cancer susceptibility.
Int J Cancer
; 148(8): 1895-1909, 2021 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33368296
6.
New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients.
RNA
; 25(9): 1130-1149, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31175170
7.
A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability.
Hum Genomics
; 14(1): 32, 2020 09 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32948248
8.
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
9.
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
10.
Estimation of the RNU2 macrosatellite mutation rate by BRCA1 mutation tracing.
Nucleic Acids Res
; 42(14): 9121-30, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25034697
11.
Occurrence of a non deleterious gene conversion event in the BRCA1 gene.
Genes Chromosomes Cancer
; 54(10): 646-52, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26171949
12.
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
13.
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
14.
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.
JAMA
; 313(13): 1347-61, 2015 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25849179
15.
High incidence of mammary intraepithelial neoplasia development in Men1-disrupted murine mammary glands.
J Pathol
; 229(4): 546-58, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23180448
16.
COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration.
Breast Cancer Res
; 15(3): 402, 2013 Jun 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-23809231
17.
Common genetic variants and modification of penetrance of BRCA2-associated breast cancer.
PLoS Genet
; 6(10): e1001183, 2010 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-21060860
18.
PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect.
Eur J Med Genet
; 66(11): 104852, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37758168
19.
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
20.
Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers.
Breast Cancer Res
; 14(2): R63, 2012 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-22513257