Detalhe da pesquisa
1.
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Am J Hum Genet
; 111(6): 1140-1164, 2024 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38776926
2.
Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis.
Eur Respir J
; 60(5)2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35728977
3.
The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom.
Genet Med
; 22(1): 85-94, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31358947
4.
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
Blood
; 132(5): 469-483, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29891534
5.
Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.
PLoS Med
; 14(2): e1002230, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28196074
6.
Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.
Haematologica
; 101(11): 1306-1318, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27651169
7.
Extensive regulation of the non-coding transcriptome by hypoxia: role of HIF in releasing paused RNApol2.
EMBO Rep
; 15(1): 70-6, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24363272
8.
Integrated analysis of microRNA and mRNA expression and association with HIF binding reveals the complexity of microRNA expression regulation under hypoxia.
Mol Cancer
; 13: 28, 2014 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-24517586
9.
MicroRNA expression profile in head and neck cancer: HOX-cluster embedded microRNA-196a and microRNA-10b dysregulation implicated in cell proliferation.
BMC Cancer
; 13: 533, 2013 Nov 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-24209638
10.
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Genome Med
; 15(1): 94, 2023 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37946251
11.
Identification of microRNA-221/222 and microRNA-323-3p association with rheumatoid arthritis via predictions using the human tumour necrosis factor transgenic mouse model.
Ann Rheum Dis
; 71(10): 1716-23, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22562984
12.
FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency.
Sci Adv
; 7(49): eabj9247, 2021 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34860543
13.
hsa-miR-210 Is induced by hypoxia and is an independent prognostic factor in breast cancer.
Clin Cancer Res
; 14(5): 1340-8, 2008 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18316553
14.
MicroRNA-10b and breast cancer metastasis.
Nature
; 455(7216): E8-9; author reply E9, 2008 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-18948893
15.
Mutation burden and other molecular markers of prognosis in colorectal cancer treated with curative intent: results from the QUASAR 2 clinical trial and an Australian community-based series.
Lancet Gastroenterol Hepatol
; 3(9): 635-643, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30042065
16.
Targeted Next-Generation Sequencing of Plasma DNA from Cancer Patients: Factors Influencing Consistency with Tumour DNA and Prospective Investigation of Its Utility for Diagnosis.
PLoS One
; 11(9): e0162809, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27626278
17.
TGF-ß/Smad2/3 signaling directly regulates several miRNAs in mouse ES cells and early embryos.
PLoS One
; 8(1): e55186, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23390484
18.
microRNA-associated progression pathways and potential therapeutic targets identified by integrated mRNA and microRNA expression profiling in breast cancer.
Cancer Res
; 71(17): 5635-45, 2011 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21737487
19.
Spanish nephrology nurses' views and attitudes towards caring for dying patients.
J Ren Care
; 36(1): 2-8, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20214702
20.
hsa-mir-210 is a marker of tumor hypoxia and a prognostic factor in head and neck cancer.
Cancer
; 116(9): 2148-58, 2010 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20187102