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Lista de obras de Alex V Postma

22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresia.

artículo científico publicado en 2010

A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function

scientific journal article

A complex double deletion in LMNA underlies progressive cardiac conduction disease, atrial arrhythmias, and sudden death.

artículo científico publicado en 2011

A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation

artículo científico publicado en 2008

A mutation in the Kozak sequence ofGATA4hampers translation in a family with atrial septal defects

artículo científico publicado en 2014

A novel alpha-tropomyosin mutation associates with dilated and non-compaction cardiomyopathy and diminishes actin binding

artículo científico publicado en 2012

A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q

artículo científico publicado el 9 de marzo de 2011

A single Na(+) channel mutation causing both long-QT and Brugada syndromes

artículo científico publicado en 1999

Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia

artículo científico publicado en 2002

Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls

scientific article published on 22 July 2013

Bicuspid Aortic Valve Morphology and Associated Cardiovascular Abnormalities in Fetal Turner Syndrome: A Pathomorphological Study

article

Candidate genes for the hereditary component of cardiac hypertrophy.

artículo científico publicado en 2006

Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients.

artículo científico publicado en 2005

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

scientific article published on 10 December 2021

DNA methylation abundantly associates with fetal alcohol spectrum disorder and its subphenotypes

artículo científico publicado en 2019

Decreased inward rectification of Kir2.1 channels is a novel mechanism underlying the short QT syndrome

artículo científico publicado en 2012

Developmental and genetic aspects of atrial fibrillation.

artículo científico publicado en 2009

Ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in MYH7.

artículo científico

Editorial Commentary: Keeping the congenitally malformed heart in shape

scientific article published on 10 July 2017

Editorial Commentary: Looking beyond the heart in adult congenital heart disease

scientific article published on 11 May 2016

Editorial commentary: Another notch for bicuspid aortic valve aortopathy?

artículo científico publicado en 2018

Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death.

artículo científico publicado en 2017

Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features

artículo científico publicado en 2007

Familial co-occurrence of congenital heart defects follows distinct patterns

artículo científico publicado en 2018

Flotillins in the intercalated disc are potential modulators of cardiac excitability

artículo científico publicado en 2018

GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum

artículo científico publicado en 2019

Genetics of congenital heart disease: Beyond half-measures

artículo científico publicado en 2014

Genetics of congenital heart disease: the contribution of the noncoding regulatory genome.

artículo científico

Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot

scientific journal article

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.

artículo científico publicado en 2013

HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy.

artículo científico publicado en 2014

Haploinsufficiency of TAB2 causes congenital heart defects in humans

artículo científico publicado en 2010

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

artículo científico publicado en 2019

Identification ofTBX5mutations in a series of 94 patients with Tetralogy of Fallot

artículo científico publicado en 2014

Identifying pathogenic variants in the Follistatin-like 1 gene (FSTL1) in patients with skeletal and atrioventricular valve disorders

article

Identifying the evolutionary building blocks of the cardiac conduction system.

artículo científico publicado en 2012

Loss-of-function variants in myocardin cause congenital megabladder in humans and mice

artículo científico publicado en 2019

Molecular diagnostics of catecholaminergic polymorphic ventricular tachycardia using denaturing high-performance liquid chromatography and sequencing

artículo científico publicado en 2006

Mutations in the Sarcomere Gene MYH7 in Ebstein Anomaly

article

Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal

artículo científico publicado en 2014

Prevalence of congenital heart defects in neuroblastoma patients: a cohort study and systematic review of literature.

scientific article published on 17 December 2008

Specialized impulse conduction pathway in the alligator heart.

artículo científico publicado en 2018

The ambiguous role of NKX2-5 mutations in thyroid dysgenesis.

artículo científico publicado en 2012

The value of the clinical geneticist caring for adults with congenital heart disease: diagnostic yield and patients' perspective

artículo científico publicado en 2013

Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy

artículo científico publicado en 2016

Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot

artículo científico publicado en 2019

Whole-Exome Sequencing Identifies Pathogenic Variants in TJP1 Gene Associated With Arrhythmogenic Cardiomyopathy

article