Detalhe da pesquisa
1.
Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.
Hum Mutat
; 42(3): 290-299, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33326660
2.
Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma.
Br J Cancer
; 116(12): 1621-1626, 2017 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28524158
3.
High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome.
J Med Genet
; 53(1): 43-52, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26475046
4.
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.
J Med Genet
; 50(2): 80-90, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23231787
5.
During embryogenesis, esrp1 expression is restricted to a subset of epithelial cells and is associated with splicing of a number of developmentally important genes.
Dev Dyn
; 242(3): 281-90, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23233200
6.
The empress of subterfuge: cancer of the fallopian tube presenting with malapropism.
Lancet
; 390(10098): 1003-1004, 2017 Sep 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28872014
7.
Cancer-Associated Perturbations in Alternative Pre-messenger RNA Splicing.
Cancer Treat Res
; 158: 41-94, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24222354
8.
Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene.
Genes (Basel)
; 14(2)2023 01 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36833203
9.
Genetic analyses of DNA repair pathway associated genes implicate new candidate cancer predisposing genes in ancestrally defined ovarian cancer cases.
Front Oncol
; 13: 1111191, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36969007
10.
Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic Intronic BRCA1 Variant in Ovarian Cancer Cases Clinically Negative for Pathogenic BRCA1 and BRCA2 Variants.
Genes (Basel)
; 13(4)2022 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35456503
11.
The Genetic and Molecular Analyses of RAD51C and RAD51D Identifies Rare Variants Implicated in Hereditary Ovarian Cancer from a Genetically Unique Population.
Cancers (Basel)
; 14(9)2022 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35565380
12.
A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene.
Genome Med
; 13(1): 186, 2021 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34861889
13.
Alternative splicing is frequent during early embryonic development in mouse.
BMC Genomics
; 11: 399, 2010 Jun 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-20573213
14.
DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.
J Clin Invest
; 130(3): 1479-1490, 2020 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31805011
15.
[Guiding and integrating to control and diversify splicing]. / Guider et intégrer pour un épissage diversifié
Med Sci (Paris)
; 25(2): 175-80, 2009 Feb.
Artigo
em Francês
| MEDLINE | ID: mdl-19239850
16.
Analysis of head and neck carcinoma progression reveals novel and relevant stage-specific changes associated with immortalisation and malignancy.
Sci Rep
; 9(1): 11992, 2019 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-31427592
17.
Analysis of DICER1 in familial and sporadic cases of transposition of the great arteries.
Congenit Heart Dis
; 13(3): 401-406, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29399970
18.
hnRNP proteins and splicing control.
Adv Exp Med Biol
; 623: 123-47, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-18380344
19.
A Targetable EGFR-Dependent Tumor-Initiating Program in Breast Cancer.
Cell Rep
; 21(5): 1140-1149, 2017 Oct 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-29091754
20.
Deep Sequencing Reveals Spatially Distributed Distinct Hot Spot Mutations in DICER1-Related Multinodular Goiter.
J Clin Endocrinol Metab
; 101(10): 3637-3645, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27459524