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NADPH oxidases and HIF1 promote cardiac dysfunction and pulmonary hypertension in response to glucocorticoid excess

Redox biology, 2020-07, Vol.34, p.101536-101536, Article 101536

2020

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A Molecular Pathway Including Id2, Tbx5, and Nkx2-5 Required for Cardiac Conduction System Development

Cell, 2007-06, Vol.129 (7), p.1365-1376

2007

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Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia

The Journal of clinical investigation, 2007-07, Vol.117 (7), p.1814-1823

2007

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Fetal Bradycardia Caused by Monogenic Disorders-A Review of the Literature

Journal of clinical medicine, 2022-11, Vol.11 (23), p.6880

2022

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Lamin A/C haploinsufficiency causes dilated cardiomyopathy and apoptosis-triggered cardiac conduction system disease

Journal of molecular and cellular cardiology, 2008-02, Vol.44 (2), p.293-303

2008

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Compound Mutation in Cardiac Sarcomere Proteins Is Associated with Increased Risk for Major Arrhythmic Events in Pediatric Onset Hypertrophic Cardiomyopathy

Journal of clinical medicine, 2021-11, Vol.10 (22), p.5256

2021

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Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay

HGG advances, 2024-04, Vol.5 (2), p.100270-100270, Article 100270

2024

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Inherited Conduction System Abnormalities-One Group of Diseases, Many Genes

Journal of cardiovascular electrophysiology, 2006-04, Vol.17 (4), p.446-455

2006

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Reclassification of genetic variants in children with long QT syndrome

Molecular genetics & genomic medicine, 2020-09, Vol.8 (9), p.e1300-n/a

2020

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Long-term outcomes of childhood onset Noonan compared to sarcomere hypertrophic cardiomyopathy

Cardiovascular diagnosis and therapy, 2019-10, Vol.9 (S2), p.S299-S309

2019

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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

Journal of cardiovascular development and disease, 2022-07, Vol.9 (7), p.215

2022

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Cell cycle defects underlie childhood-onset cardiomyopathy associated with Noonan syndrome

iScience, 2022-01, Vol.25 (1), p.103596, Article 103596

2022

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Cytoplasmic CUG RNA foci are insufficient to elicit key DM1 features

PloS one, 2008-12, Vol.3 (12), p.e3968-e3968

2008

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Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-β

The Journal of clinical investigation, 2010-10, Vol.120 (10), p.3520-3529

2010

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Neointimal hyperplasia in systemic-to-pulmonary shunts of children with complex cyanotic congenital heart disease

European journal of cardio-thoracic surgery, 2022-11, Vol.62 (6)

2022

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Epicardioid single-cell genomics uncovers principles of human epicardium biology in heart development and disease

Nature biotechnology, 2023-12, Vol.41 (12), p.1787-1800

2023

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Atrial Remodeling After the Fontan Operation

The American journal of cardiology, 2009-12, Vol.104 (12), p.1737-1742

2009

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No increased extracellular volume fraction or conduction time after childhood septal myectomy

European journal of cardio-thoracic surgery, 2020-05, Vol.57 (5), p.958-964

2020

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Somatic Events Modify Hypertrophic Cardiomyopathy Pathology and Link Hypertrophy to Arrhythmia

Proceedings of the National Academy of Sciences - PNAS, 2005-12, Vol.102 (50), p.18123-18128

2005

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Management of cardiac aspects in children with Noonan syndrome – results from a European clinical practice survey among paediatric cardiologists

European journal of medical genetics, 2022-01, Vol.65 (1), p.104372-104372, Article 104372

2022

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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

Clinical chemistry and laboratory medicine, 2024-02, Vol.62 (3), p.551-561

2024

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EGFR and MMP-9 are associated with neointimal hyperplasia in systemic-to-pulmonary shunts in children with complex cyanotic heart disease

Mammalian genome, 2023-06, Vol.34 (2), p.285-297

2023

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Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe: A sub-analysis of a European clinical practice survey

European journal of medical genetics, 2022-01, Vol.65 (1), p.104404-104404, Article 104404

2022

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Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder

American journal of medical genetics. Part A, 2023-02, Vol.191 (2), p.469-478

2023

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Clinical long-term outcome of septal myectomy for obstructive hypertrophic cardiomyopathy in infants

European journal of cardio-thoracic surgery, 2018-03, Vol.53 (3), p.538-544

2018

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NADPH oxidases and HIF1 promote cardiac dysfunction and pulmonary hypertension in response to glucocorticoid excess

A Molecular Pathway Including Id2, Tbx5, and Nkx2-5 Required for Cardiac Conduction System Development

Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia

Fetal Bradycardia Caused by Monogenic Disorders-A Review of the Literature

Lamin A/C haploinsufficiency causes dilated cardiomyopathy and apoptosis-triggered cardiac conduction system disease

Compound Mutation in Cardiac Sarcomere Proteins Is Associated with Increased Risk for Major Arrhythmic Events in Pediatric Onset Hypertrophic Cardiomyopathy

Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay

Inherited Conduction System Abnormalities-One Group of Diseases, Many Genes

Reclassification of genetic variants in children with long QT syndrome

Long-term outcomes of childhood onset Noonan compared to sarcomere hypertrophic cardiomyopathy

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

Cell cycle defects underlie childhood-onset cardiomyopathy associated with Noonan syndrome

Cytoplasmic CUG RNA foci are insufficient to elicit key DM1 features

Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-β

Neointimal hyperplasia in systemic-to-pulmonary shunts of children with complex cyanotic congenital heart disease

Epicardioid single-cell genomics uncovers principles of human epicardium biology in heart development and disease

Atrial Remodeling After the Fontan Operation

No increased extracellular volume fraction or conduction time after childhood septal myectomy

Somatic Events Modify Hypertrophic Cardiomyopathy Pathology and Link Hypertrophy to Arrhythmia

Management of cardiac aspects in children with Noonan syndrome – results from a European clinical practice survey among paediatric cardiologists

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

EGFR and MMP-9 are associated with neointimal hyperplasia in systemic-to-pulmonary shunts in children with complex cyanotic heart disease

Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe: A sub-analysis of a European clinical practice survey

Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder

Clinical long-term outcome of septal myectomy for obstructive hypertrophic cardiomyopathy in infants

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