Detalhe da pesquisa
1.
BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding.
Hum Mutat;
39(12): 2025-2039, 2018 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30204945
2.
Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.
J Med Genet;
53(8): 548-58, 2016 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27060066
3.
Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.
Hum Mol Genet;
23(14): 3666-80, 2014 Jul 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24569164
4.
BRCA1 Circos: a visualisation resource for functional analysis of missense variants.
J Med Genet;
52(4): 224-30, 2015 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25643705
5.
Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity.
Mol Carcinog;
54(7): 513-22, 2015 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24302565
6.
Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.
Clin Chem;
60(2): 341-52, 2014 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24212087
7.
Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.
Hum Mutat;
34(10): 1424-31, 2013 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23893897
8.
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.
J Med Genet;
49(8): 525-32, 2012 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22889855
9.
A case series of first rib resection patients assessed with a novel MRI protocol for neurogenic thoracic outlet syndrome.
J Surg Case Rep;
2023(12): rjad672, 2023 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38111495
10.
Identification of fifteen novel germline variants in the BRCA1 3'UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site.
Hum Mutat;
33(12): 1665-75, 2012 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22753153
11.
Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.
Breast Cancer Res Treat;
132(3): 1009-23, 2012 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21769658
12.
A case of liver injury and pneumo-haemoperitoneum during pericardiocentesis.
J Surg Case Rep;
2022(2): rjac009, 2022 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35145624
13.
Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.
Hum Mutat;
32(6): 678-87, 2011 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21394826
14.
A case of metastatic neuroendocrine disease and cholecystitis: surgical remedy and management of carcinoid crisis.
J Surg Case Rep;
2021(12): rjab543, 2021 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34909171
15.
Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.
Hum Mutat;
31(6): E1484-505, 2010 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20513136
16.
Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts.
BMC Med Genet;
11: 80, 2010 May 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20507642
17.
Caution: Plasmid DNA topology affects luciferase assay reproducibility and outcomes.
Biotechniques;
67(3): 94-96, 2019 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31368777
18.
Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.
PLoS One;
9(1): e86836, 2014.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24489791