Detalhe da pesquisa
1.
Molecular Function and Contribution of TBX4 in Development and Disease.
Am J Respir Crit Care Med;
207(7): 855-864, 2023 04 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36367783
2.
Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.
Genet Med;
25(11): 100925, 2023 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37422716
3.
First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.
Am J Respir Crit Care Med;
206(12): 1522-1533, 2022 12 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35852389
4.
ADA2 deficiency complicated by EBV-driven lymphoproliferative disease.
Clin Immunol;
215: 108443, 2020 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32353633
5.
Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders.
Am J Med Genet A;
179(7): 1330-1337, 2019 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31041856
6.
'There and Back Again'-Forward Genetics and Reverse Phenotyping in Pulmonary Arterial Hypertension.
Genes (Basel);
11(12)2020 11 26.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33256119
7.
Giant saphenous vein graft aneurysm compressing right ventricular outflow tract and main pulmonary artery.
Circulation;
127(5): 650-1, 2013 Feb 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23381963
8.
The use of panel testing in familial breast and ovarian cancer.
Clin Med (Lond);
17(6): 568-572, 2017 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29196360
9.
Tachycardia-induced cardiomyopathy in pregnancy.
J Cardiovasc Med (Hagerstown);
17(10): 762-6, 2016 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25486585
10.
Taking consent for neonatal microarray analysis as a screen for genomic rearrangements: are paediatricians equipped for the genomic era?
Arch Dis Child;
105(10): 1021-1022, 2020 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31563874
11.
Histopathology of the great vessels in patients with pulmonary arterial hypertension in association with congenital heart disease: large pulmonary arteries matter too.
Int J Cardiol;
168(3): 2248-54, 2013 Oct 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23453874
12.
Peak oxygen uptake correlates with disease severity and predicts outcome in adult patients with Ebstein's anomaly of the tricuspid valve.
Int J Cardiol;
163(3): 305-308, 2013 Mar 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21715031
13.
Detrimental impact of socioeconomic status on exercise capacity in adults with congenital heart disease.
Int J Cardiol;
165(1): 80-6, 2013 Apr 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21868115
14.
Exercise intolerance in patients with congenitally corrected transposition of the great arteries relates to right ventricular filling pressures.
Int J Cardiol;
147(2): 219-23, 2011 Mar 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19766331
15.
Arterial switch repair to transposition of great arteries: so far so good.
Int J Cardiol;
160(1): 1-3, 2012 Sep 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22357427
16.
Risk stratification in bicuspid aortic valve disease: still more work to do.
Eur J Cardiothorac Surg;
41(2): 327-8, 2012 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21798753