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1.
Bioactive adrenomedullin (bio-ADM) is associated with endothelial dysfunction in infants and children with complex congenital heart disease undergoing open-heart surgery on cardiopulmonary bypass.
Clin Chem Lab Med;
62(3): 551-561, 2024 Feb 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-37870269
2.
Differentiating primary sarcomeric hypertrophic cardiomyopathy from Noonan syndrome: can the electrocardiogram be of use?
Cardiol Young;
34(3): 597-603, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-37649442
3.
EGFR and MMP-9 are associated with neointimal hyperplasia in systemic-to-pulmonary shunts in children with complex cyanotic heart disease.
Mamm Genome;
34(2): 285-297, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36867212
4.
Genetic and phenotypic spectrum in the NONO-associated syndromic disorder.
Am J Med Genet A;
191(2): 469-478, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36426740
5.
Low-molecular-weight heparin administered by subcutaneous catheter is a safe and effective anti-coagulation regimen in selected inpatient infants and children with complex congenital heart disease.
Cardiol Young;
31(9): 1439-1444, 2021 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-33588972
6.
Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay.
HGG Adv;
5(2): 100270, 2024 Apr 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-38219013
7.
Epicardioid single-cell genomics uncovers principles of human epicardium biology in heart development and disease.
Nat Biotechnol;
41(12): 1787-1800, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37012447
8.
Peak Oxygen Uptake on Cardiopulmonary Exercise Test Is a Predictor for Severe Arrhythmic Events during Three-Year Follow-Up in Patients with Complex Congenital Heart Disease.
J Cardiovasc Dev Dis;
9(7)2022 Jul 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-35877577
9.
Fetal Bradycardia Caused by Monogenic Disorders-A Review of the Literature.
J Clin Med;
11(23)2022 Nov 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-36498454
10.
Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe: A sub-analysis of a European clinical practice survey.
Eur J Med Genet;
65(1): 104404, 2022 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-34896604
11.
Management of cardiac aspects in children with Noonan syndrome - results from a European clinical practice survey among paediatric cardiologists.
Eur J Med Genet;
65(1): 104372, 2022 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-34757052
12.
European Medical Education Initiative on Noonan syndrome: A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe.
Eur J Med Genet;
65(1): 104371, 2022 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-34757053
13.
Neointimal hyperplasia in systemic-to-pulmonary shunts of children with complex cyanotic congenital heart disease.
Eur J Cardiothorac Surg;
62(6)2022 11 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36005853
14.
Cell cycle defects underlie childhood-onset cardiomyopathy associated with Noonan syndrome.
iScience;
25(1): 103596, 2022 Jan 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-34988410
15.
Ablation of LKB1 in the heart leads to energy deprivation and impaired cardiac function.
Biochim Biophys Acta;
1802(7-8): 593-600, 2010.
Artículo
en Inglés
| MEDLINE | ID: mdl-20441792
16.
Compound Mutation in Cardiac Sarcomere Proteins Is Associated with Increased Risk for Major Arrhythmic Events in Pediatric Onset Hypertrophic Cardiomyopathy.
J Clin Med;
10(22)2021 Nov 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34830538
17.
Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia.
J Clin Invest;
117(7): 1814-23, 2007 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-17607358
18.
Reclassification of genetic variants in children with long QT syndrome.
Mol Genet Genomic Med;
8(9): e1300, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32383558
19.
NADPH oxidases and HIF1 promote cardiac dysfunction and pulmonary hypertension in response to glucocorticoid excess.
Redox Biol;
34: 101536, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32413743
20.
No increased extracellular volume fraction or conduction time after childhood septal myectomy.
Eur J Cardiothorac Surg;
57(5): 958-964, 2020 05 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31951249