List of works - Lars A Larsen

A Novel Missense Mutation, Leu390Val, in the Cardiac ß-myosin Heavy Chain Associated with Pronounced Septal Hypertrophy in Two Families with Hypertrophic Cardiomyopathy

scientific article published on 01 December 2000

A homogeneous assay for analysis of FMR1 promoter methylation in patients with fragile X syndrome.

scientific article published on 26 January 2007

A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family

scientific article published on August 2017

A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family.

scientific article published on 10 December 2015

A single strand conformation polymorphism/heteroduplex (SSCP/HD) method for detection of mutations in 15 exons of the KVLQT1 gene, associated with long QT syndrome

article

Adult-onset familial hypertrophic cardiomyopathy caused by a novel mutation, R694C, in the MYH7 gene

article

Analysis of FMR1 (CGG)(n) alleles and DXS548-FRAXAC1 haplotypes in three European circumpolar populations: traces of genetic relationship with Asia.

scientific article published in September 2001

Analysis of FMR1 (CGG)n alleles and FRAXA microsatellite haplotypes in the population of Greenland: implications for the population of the New World from Asia.

scientific article published in October 1999

Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis

Brain barriers and a subpopulation of astroglial progenitors of developing human forebrain are immunostained for the glycoprotein YKL-40.

scientific article published on 04 March 2014

CEP128 Localizes to the Subdistal Appendages of the Mother Centriole and Regulates TGF-β/BMP Signaling at the Primary Cilium

scientific article published on 01 March 2018

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

scientific article

Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development.

scientific article

Cilia and coordination of signaling networks during heart development

scientific article published on 17 December 2013

Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease

scientific article published on 01 March 2006

Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome

scientific article published on 01 January 2005

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

scientific article

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

scientific article

Does KCNE5 play a role in long QT syndrome?

scientific article

Eponymous Jacobsen syndrome: Mapping the breakpoints of the original family suggests an association between the distal 1.1 Mb of chromosome 21 and osteoporosis in Down syndrome

scientific article published on 01 June 2005

Evaluation of two methods for generating cRNA for microarray experiments from nanogram amounts of total RNA

scientific article published on 07 September 2006

Expression analyses of human cleft palate tissue suggest a role for osteopontin and immune related factors in palatal development

scientific article published on February 2009

Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a Novel NKX2-5 Mutation and a Review of the Literature

scientific article published on 18 December 2015

Familial co-occurrence of congenital heart defects follows distinct patterns

scientific article published in March 2018

Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly.

scientific article published on 11 October 2007

GLI1 is involved in cell cycle regulation and proliferation of NT2 embryonal carcinoma stem cells.

scientific article published on May 2008

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

scientific article

Genome-wide gene expression profiling of SCID mice with T-cell-mediated Colitis.

scientific article published on 26 February 2009

Haploinsufficiency of ARHGAP42 is associated with hypertension

scientific article published on 21 March 2019

Haploinsufficiency of TAB2 causes congenital heart defects in humans

scientific article

Hedgehog signaling in small-cell lung cancer: frequent in vivo but a rare event in vitro.

scientific article published on 17 April 2006

High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease.

scientific article published on 19 August 2008

High throughput mutation screening by automated capillary electrophoresis.

scientific article

High-throughput analysis of Fragile X (CGG) n alleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis ⬇️

scientific article published on October 1, 1997

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

article

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

scientific article published in May 2005

How Suitable Are Registry Data for Recurrence Risk Calculations? Validation of Diagnoses on 1,593 Families With Congenital Heart Disease

scientific article

IFT20 modulates ciliary PDGFRα signaling by regulating the stability of Cbl E3 ubiquitin ligases.

scientific article published on 13 December 2017

Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family.

scientific article published in January 2004

Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2

scientific article published on 01 February 2000

Mapping of 5q35 chromosomal rearrangements within a genomically unstable region.

scientific article

Model system identification of novel congenital heart disease gene candidates: focus on RPL13

scientific article published on 01 December 2019

Molecular characterization of two patients with de novo interstitial deletions in 4q22-q24

scientific article published on 01 August 2009

Multiplex ligation-dependent probe amplification technique for copy number analysis on small amounts of DNA material.

scientific article published in December 2008

Mutation Detection by Cleavase in Combination With Capillary Electrophoresis Analysis: Application to Mutations Causing Hypertrophic Cardiomyopathy and Long-QT Syndrome

scientific article published on 01 June 1998

Mutation of the Planar Cell Polarity Gene VANGL1 in Adolescent Idiopathic Scoliosis

scientific article

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

scientific article published on 01 February 2005

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

scientific article

Of mice and men: molecular genetics of congenital heart disease

scientific article

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

scientific article published in February 2005

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

scientific article published on October 2006

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

scientific article

Patient-specific three-dimensional explant spheroids derived from human nasal airway epithelium: a simple methodological approach for ex vivo studies of primary ciliary dyskinesia.

scientific article

Quantitative detection of male DNA by polymerase chain reaction using a single primer set: application to sex determination and counting of rare fetal cells.

scientific article published in August 1996

RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis

scientific article published on 16 November 2020

Recent developments in high-throughput mutation screening

scientific article

Recombinant Adeno-Associated Virus-Mediated microRNA Delivery into the Postnatal Mouse Brain Reveals a Role for miR-134 in Dendritogenesis in Vivo

scientific article

Screening for fragile X syndrome. International experiences

scientific article published in October 2006

Screening of 99 Danish patients with congenital heart disease for GATA4 mutations.

scientific article published in January 2006

Sequence analysis of 17 NRXN1 deletions.

scientific article published on 25 September 2013

Single-Strand Conformation Polymorphism Analysis Using Capillary Electrophoresis

Single-strand conformation polymorphism analysis using capillary array electrophoresis for large-scale mutation detection

article

Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease

scientific article published on 28 August 2020

T wave morphology analysis distinguishes between KvLQT1 and HERG mutations in long QT syndrome

scientific article published in September 2004

TGF-β signaling is associated with endocytosis at the pocket region of the primary cilium

scientific article published on 6 June 2013

The E3 ubiquitin ligase SMURF1 regulates cell-fate specification and outflow tract septation during mammalian heart development.

scientific article

The Val606Met mutation in the cardiac beta-myosin heavy chain gene in patients with familial hypertrophic cardiomyopathy is associated with a high risk of sudden death at young age.

scientific article published in June 2001

The hedgehog signaling pathway in cancer

scientific article published on 01 January 2005

The primary cilium coordinates early cardiogenesis and hedgehog signaling in cardiomyocyte differentiation

scientific journal article

YKL-40 is differentially expressed in human embryonic stem cells and in cell progeny of the three germ layers

scientific article published in December 2011

YKL-40 protein expression in the early developing human musculoskeletal system

scientific article published on 21 August 2007

[Chromosomal changes in congenital heart disease]

scientific article published on 01 January 2011

[Maternal serum screening for congenital abnormalities and Down syndrome in Sønderjylland County. Eight years of experience]

scientific article published on 01 December 1999

List of works by Lars A Larsen

A Novel Missense Mutation, Leu390Val, in the Cardiac ß-myosin Heavy Chain Associated with Pronounced Septal Hypertrophy in Two Families with Hypertrophic Cardiomyopathy

A homogeneous assay for analysis of FMR1 promoter methylation in patients with fragile X syndrome.

A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family

A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family.

A single strand conformation polymorphism/heteroduplex (SSCP/HD) method for detection of mutations in 15 exons of the KVLQT1 gene, associated with long QT syndrome

Adult-onset familial hypertrophic cardiomyopathy caused by a novel mutation, R694C, in the MYH7 gene

Analysis of FMR1 (CGG)(n) alleles and DXS548-FRAXAC1 haplotypes in three European circumpolar populations: traces of genetic relationship with Asia.

Analysis of FMR1 (CGG)n alleles and FRAXA microsatellite haplotypes in the population of Greenland: implications for the population of the New World from Asia.

Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis

Brain barriers and a subpopulation of astroglial progenitors of developing human forebrain are immunostained for the glycoprotein YKL-40.

CEP128 Localizes to the Subdistal Appendages of the Mother Centriole and Regulates TGF-β/BMP Signaling at the Primary Cilium

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

Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development.

Cilia and coordination of signaling networks during heart development

Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease

Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome

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?

Eponymous Jacobsen syndrome: Mapping the breakpoints of the original family suggests an association between the distal 1.1 Mb of chromosome 21 and osteoporosis in Down syndrome

Evaluation of two methods for generating cRNA for microarray experiments from nanogram amounts of total RNA

Expression analyses of human cleft palate tissue suggest a role for osteopontin and immune related factors in palatal development

Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a Novel NKX2-5 Mutation and a Review of the Literature

Familial co-occurrence of congenital heart defects follows distinct patterns

Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly.

GLI1 is involved in cell cycle regulation and proliferation of NT2 embryonal carcinoma stem cells.

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 gene expression profiling of SCID mice with T-cell-mediated Colitis.

Haploinsufficiency of ARHGAP42 is associated with hypertension

Haploinsufficiency of TAB2 causes congenital heart defects in humans

Hedgehog signaling in small-cell lung cancer: frequent in vivo but a rare event in vitro.

High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease.

High throughput mutation screening by automated capillary electrophoresis.

High-throughput analysis of Fragile X (CGG) n alleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis ⬇️

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

How Suitable Are Registry Data for Recurrence Risk Calculations? Validation of Diagnoses on 1,593 Families With Congenital Heart Disease

IFT20 modulates ciliary PDGFRα signaling by regulating the stability of Cbl E3 ubiquitin ligases.

Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family.

Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2

Mapping of 5q35 chromosomal rearrangements within a genomically unstable region.

Model system identification of novel congenital heart disease gene candidates: focus on RPL13

Molecular characterization of two patients with de novo interstitial deletions in 4q22-q24

Multiplex ligation-dependent probe amplification technique for copy number analysis on small amounts of DNA material.

Mutation Detection by Cleavase in Combination With Capillary Electrophoresis Analysis: Application to Mutations Causing Hypertrophic Cardiomyopathy and Long-QT Syndrome

Mutation of the Planar Cell Polarity Gene VANGL1 in Adolescent Idiopathic Scoliosis

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

Of mice and men: molecular genetics of congenital heart disease

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

Patient-specific three-dimensional explant spheroids derived from human nasal airway epithelium: a simple methodological approach for ex vivo studies of primary ciliary dyskinesia.

Quantitative detection of male DNA by polymerase chain reaction using a single primer set: application to sex determination and counting of rare fetal cells.

RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis

Recent developments in high-throughput mutation screening

Recombinant Adeno-Associated Virus-Mediated microRNA Delivery into the Postnatal Mouse Brain Reveals a Role for miR-134 in Dendritogenesis in Vivo

Screening for fragile X syndrome. International experiences

Screening of 99 Danish patients with congenital heart disease for GATA4 mutations.

Sequence analysis of 17 NRXN1 deletions.

Single-Strand Conformation Polymorphism Analysis Using Capillary Electrophoresis

Single-strand conformation polymorphism analysis using capillary array electrophoresis for large-scale mutation detection

Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease

T wave morphology analysis distinguishes between KvLQT1 and HERG mutations in long QT syndrome

TGF-β signaling is associated with endocytosis at the pocket region of the primary cilium

The E3 ubiquitin ligase SMURF1 regulates cell-fate specification and outflow tract septation during mammalian heart development.

The Val606Met mutation in the cardiac beta-myosin heavy chain gene in patients with familial hypertrophic cardiomyopathy is associated with a high risk of sudden death at young age.

The hedgehog signaling pathway in cancer

The primary cilium coordinates early cardiogenesis and hedgehog signaling in cardiomyocyte differentiation

YKL-40 is differentially expressed in human embryonic stem cells and in cell progeny of the three germ layers

YKL-40 protein expression in the early developing human musculoskeletal system

[Chromosomal changes in congenital heart disease]

[Maternal serum screening for congenital abnormalities and Down syndrome in Sønderjylland County. Eight years of experience]