Detalhe da pesquisa
1.
Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux.
J Am Soc Nephrol;
32(4): 805-820, 2021 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33597122
2.
Incidence of Fragile X syndrome in Ireland.
Am J Med Genet A;
173(3): 678-683, 2017 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28157260
3.
Urinary tract effects of HPSE2 mutations.
J Am Soc Nephrol;
26(4): 797-804, 2015 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25145936
4.
Heterozygous non-synonymous ROBO2 variants are unlikely to be sufficient to cause familial vesicoureteric reflux.
Kidney Int;
84(2): 327-37, 2013 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23536131
5.
Predictors of high-degree atrioventricular block in patients with new-onset left bundle branch block following transcatheter aortic valve replacement.
J Interv Card Electrophysiol;
65(3): 765-772, 2022 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36056221
6.
The Single-Access Technique for Impella Protected Percutaneous Coronary Intervention: A Single-Center Experience.
J Invasive Cardiol;
34(3): E190-E195, 2022 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34928814
7.
Myocardial infarction secondary to coronary embolus in a patient with left ventricular non-compaction cardiomyopathy: a case report.
Eur Heart J Case Rep;
5(3): ytab077, 2021 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34113765
8.
Investigation of DNA variants specific to ROBO2 Isoform 'a' in Irish vesicoureteric reflux patients reveals marked CpG island variation.
Sci Rep;
10(1): 2265, 2020 02 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32041992
9.
National Newborn Screening for cystic fibrosis in the Republic of Ireland: genetic data from the first 6.5 years.
Eur J Hum Genet;
28(12): 1669-1674, 2020 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32483343
10.
The increased incidence of the RET p.Gly691Ser variant in French-Canadian vesicoureteric reflux patients is not replicated by a larger study in Ireland.
Hum Mutat;
30(5): E612-7, 2009 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19306327
11.
Managing uncertainty in inherited cardiac pathologies-an international multidisciplinary survey.
Eur J Hum Genet;
27(8): 1178-1185, 2019 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30979968
12.
Evaluation and use of a synthetic quality control material, included in the European external quality assessment scheme for cystic fibrosis.
Hum Mutat;
29(8): 1063-70, 2008 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18470946
13.
Publisher Correction: Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux.
Sci Rep;
8(1): 459, 2018 01 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29311702
14.
Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux.
Sci Rep;
7(1): 14595, 2017 11 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29097723
15.
Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis.
BMC Med Genet;
7: 81, 2006 Nov 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17134494
16.
Uroplakin III is not a major candidate gene for primary vesicoureteral reflux.
Eur J Hum Genet;
13(4): 500-2, 2005 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15523493
17.
Left main percutaneous coronary intervention versus coronary artery bypass surgery: A case of true equivalence in low and intermediate complexity anatomy or a question yet to be answered?
Atherosclerosis;
308: 45-47, 2020 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32829879
18.
Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland.
Hum Mutat;
22(1): 105, 2003 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12815607
19.
Intrafamilial phenotypic variability in Friedreich ataxia associated with a G130V mutation in the FRDA gene.
Arch Neurol;
59(2): 296-300, 2002 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-11843702
20.
Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).
Eur J Hum Genet;
22(2): 160-70, 2014 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23942201