Lista de obras -

Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis

Capillary electrophoresis-based single strand DNA conformation analysis in high-throughput mutation screening

artículo científico publicado en 2003

Cerebral microvascular changes in healthy carriers of the APOE-ɛ4 Alzheimer's disease risk gene

artículo científico publicado en 2024

Complex spatio-temporal distribution and genogeographic affinity of mitochondrial DNA haplogroups in 24,216 Danes

Complex spatio-temporal distribution and genomic ancestry of mitochondrial DNA haplogroups in 24,216 Danes

scientific article published in PLoS ONE

Detecting 22q11.2 deletions by use of multiplex ligation-dependent probe amplification on DNA from neonatal dried blood spot samples.

artículo científico publicado en 2010

Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives

artículo científico publicado en 2009

Does KCNE5 play a role in long QT syndrome?

artículo científico publicado en 2004

Echocardiographic evaluation of pre-diagnostic development in young relatives genetically predisposed to hypertrophic cardiomyopathy.

artículo científico publicado en 2015

Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy

artículo científico publicado en 2009

Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women

artículo científico publicado en 2010

Fibrosis, Connexin-43, and Conduction Abnormalities in the Brugada Syndrome.

artículo científico publicado en 2015

Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency

artículo científico publicado en 2004

Genome-wide association study across pediatric central nervous system tumors implicates shared predisposition and points to 1q25.2 (PAPPA2) and 11p12 (LRRC4C) as novel candidate susceptibility loci

artículo científico publicado en 2020

Glucose ingestion causes cardiac repolarization disturbances in type 1 long QT syndrome patients and healthy subjects.

artículo científico publicado en 2017

High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA.

artículo científico publicado en 2016

High-throughput single strand conformation polymorphism mutation detection by automated capillary array electrophoresis: validation of the method

article by Paal S Andersen et al published February 2003 in Human Mutation

High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: Robust multiplex analysis and pattern-based identification of allelic variants

artículo científico publicado en 1999

High-throughput single-strand conformation polymorphism analysis on a microfabricated capillary array electrophoresis device

artículo científico publicado en 2005

KCNQ1 long QT syndrome patients have hyperinsulinemia and symptomatic hypoglycemia

artículo científico publicado en 2013

Mitochondrial DNA SNPs associated with Schizophrenia exhibit Highly Variable Inter-allelic Haplogroup Affiliation and Nuclear Genogeographic Affinity: Bi-Genomic Linkage Disequilibrium raises Major Concerns for Link to Disease

Mutations in the HERG K+-ion channel: A novel link between long QT syndrome and sudden infant death syndrome

artículo científico publicado en 2005

Mutations in the Kv1.5 channel gene KCNA5 in cardiac arrest patients

artículo científico publicado en 2007

Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy

scientific article published on 23 July 2019

Nutritional supplementation increases rifampin exposure among tuberculosis patients coinfected with HIV

artículo científico publicado en 2014

One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations [corrected] in MYH7 rod region

artículo científico publicado en 2005

Optimization of capillary array electrophoresis single-strand conformation polymorphism analysis for routine molecular diagnostics

artículo científico publicado en 2006

Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations

artículo científico publicado en 2003

Patients With Long-QT Syndrome Caused by Impaired hERG-Encoded Kv11.1 Potassium Channel Have Exaggerated Endocrine Pancreatic and Incretin Function Associated With Reactive Hypoglycemia

artículo científico publicado en 2017

Penetrance of hypertrophic cardiomyopathy in children and adolescents: a 12-year follow-up study of clinical screening and predictive genetic testing

artículo científico publicado en 2012

Pharmacokinetics of Isoniazid, Pyrazinamide, and Ethambutol in Newly Diagnosed Pulmonary TB Patients in Tanzania

artículo científico publicado en 2015

Pregnancy-associated plasma protein-A (PAPP-A) and the proform of the eosinophil major basic protein (ProMBP) are associated with increased risk of death in heart failure patients

artículo científico publicado en 2017

Reduced neonatal brain-derived neurotrophic factor is associated with autism spectrum disorders

artículo científico publicado en 2019

Reply: Search for Evidence-Based Medicine for Brugada Syndrome: The Complex Network of the Brugada Syndrome.

artículo científico publicado en 2016

Schizophrenia-associated mt-DNA SNPs exhibit highly variable haplogroup affiliation and nuclear ancestry: Bi-genomic dependence raises major concerns for link to disease

artículo científico publicado en 2018

Single-Strand Conformation Polymorphism Analysis Using Capillary Electrophoresis

The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study.

artículo científico publicado en 2011

The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy

artículo científico publicado en 2009

The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy

artículo científico publicado en 2009

[Long QT syndrome--genes, mechanisms and risks. Indication for genetic family screening?].

artículo científico publicado en 2006

Lista de obras de

Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis

Capillary electrophoresis-based single strand DNA conformation analysis in high-throughput mutation screening

Cerebral microvascular changes in healthy carriers of the APOE-ɛ4 Alzheimer's disease risk gene

Complex spatio-temporal distribution and genogeographic affinity of mitochondrial DNA haplogroups in 24,216 Danes

Complex spatio-temporal distribution and genomic ancestry of mitochondrial DNA haplogroups in 24,216 Danes

Detecting 22q11.2 deletions by use of multiplex ligation-dependent probe amplification on DNA from neonatal dried blood spot samples.

Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives

Does KCNE5 play a role in long QT syndrome?

Echocardiographic evaluation of pre-diagnostic development in young relatives genetically predisposed to hypertrophic cardiomyopathy.

Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy

Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women

Fibrosis, Connexin-43, and Conduction Abnormalities in the Brugada Syndrome.

Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency

Genome-wide association study across pediatric central nervous system tumors implicates shared predisposition and points to 1q25.2 (PAPPA2) and 11p12 (LRRC4C) as novel candidate susceptibility loci

Glucose ingestion causes cardiac repolarization disturbances in type 1 long QT syndrome patients and healthy subjects.

High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA.

High-throughput single strand conformation polymorphism mutation detection by automated capillary array electrophoresis: validation of the method

High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: Robust multiplex analysis and pattern-based identification of allelic variants

High-throughput single-strand conformation polymorphism analysis on a microfabricated capillary array electrophoresis device

KCNQ1 long QT syndrome patients have hyperinsulinemia and symptomatic hypoglycemia

Mitochondrial DNA SNPs associated with Schizophrenia exhibit Highly Variable Inter-allelic Haplogroup Affiliation and Nuclear Genogeographic Affinity: Bi-Genomic Linkage Disequilibrium raises Major Concerns for Link to Disease

Mutations in the HERG K+-ion channel: A novel link between long QT syndrome and sudden infant death syndrome

Mutations in the Kv1.5 channel gene KCNA5 in cardiac arrest patients

Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy

Nutritional supplementation increases rifampin exposure among tuberculosis patients coinfected with HIV

One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations [corrected] in MYH7 rod region

Optimization of capillary array electrophoresis single-strand conformation polymorphism analysis for routine molecular diagnostics

Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations

Patients With Long-QT Syndrome Caused by Impaired hERG-Encoded Kv11.1 Potassium Channel Have Exaggerated Endocrine Pancreatic and Incretin Function Associated With Reactive Hypoglycemia

Penetrance of hypertrophic cardiomyopathy in children and adolescents: a 12-year follow-up study of clinical screening and predictive genetic testing

Pharmacokinetics of Isoniazid, Pyrazinamide, and Ethambutol in Newly Diagnosed Pulmonary TB Patients in Tanzania

Pregnancy-associated plasma protein-A (PAPP-A) and the proform of the eosinophil major basic protein (ProMBP) are associated with increased risk of death in heart failure patients

Reduced neonatal brain-derived neurotrophic factor is associated with autism spectrum disorders

Reply: Search for Evidence-Based Medicine for Brugada Syndrome: The Complex Network of the Brugada Syndrome.

Schizophrenia-associated mt-DNA SNPs exhibit highly variable haplogroup affiliation and nuclear ancestry: Bi-genomic dependence raises major concerns for link to disease

Single-Strand Conformation Polymorphism Analysis Using Capillary Electrophoresis

The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study.

The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy

The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy

[Long QT syndrome--genes, mechanisms and risks. Indication for genetic family screening?].