List of works - Cheryl L Maslen

ALK2 mutation in a patient with Down's syndrome and a congenital heart defect

scientific article

Allelic Interaction between CRELD1 and VEGFA in the Pathogenesis of Cardiac Atrioventricular Septal Defects

scientific article

Allometric considerations when assessing aortic aneurysms in Turner syndrome: Implications for activity recommendations and medical decision-making

scientific article published on 15 December 2017

An ethinyl estradiol-levonorgestrel containing oral contraceptive does not alter cytochrome P4502C9 in vivo activity.

scientific article published on 24 December 2013

An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects

scientific article published in October 2012

An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs

scientific article

Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects

scientific article

Aortic Dissection in Patients With Genetically Mediated Aneurysms: Incidence and Predictors in the GenTAC Registry

scientific article published on June 2016

Associations Between Medical History, Cognition, and Behavior in Youth With Down Syndrome: A Report From the Down Syndrome Cognition Project

scientific article published on 01 November 2018

Associations of Age and Sex With Marfan Phenotype: The National Heart, Lung, and Blood Institute GenTAC (Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions) Registry

scientific article published on June 2017

Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry.

scientific article published on 8 September 2016

Bicuspid and unicuspid aortic valves: Different phenotypes of the same disease? Insight from the GenTAC Registry

scientific article published on 14 August 2017

CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome.

scientific article

CRELD2: gene mapping, alternate splicing, and comparative genomic identification of the promoter region

scientific article

Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms

scientific article published on 23 June 2016

Clopidogrel variability: role of plasma protein binding alterations

scientific article published on June 2013

Conference summary: What we have learned and where we are headed

scientific article published on 11 January 2019

DNA Methylation Analysis of Turner Syndrome BAV

scientific article published on 01 January 2022

Development and validation of the Arizona Cognitive Test Battery for Down syndrome

scientific article

GenTAC registry report: gender differences among individuals with genetically triggered thoracic aortic aneurysm and dissection

article

Genetic modifiers predisposing to congenital heart disease in the sensitized Down syndrome population

scientific article

Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects.

scientific article

Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.

scientific article published on 11 September 2011

Identification, genomic organization and mRNA expression of CRELD1, the founding member of a unique family of matricellular proteins

scientific article published in June 2002

Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome

scientific article published on 22 October 2020

Impact of image analysis methodology on diagnostic and surgical classification of patients with thoracic aortic aneurysms

scientific article published on 02 July 2011

Long-term implications of emergency versus elective proximal aortic surgery in patients with Marfan syndrome in the Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Consortium Registry

scientific article published on 20 November 2011

Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome

scientific article published in September 2004

Mechanical property characterization of electrospun recombinant human tropoelastin for vascular graft biomaterials

scientific article

Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects

scientific article

Molecular genetics of atrioventricular septal defects

scientific article published on May 2004

Open Thoracoabdominal Aortic Repair in Patients with Heritable Aortic Disease in the GenTAC Registry

scientific article published on 27 September 2019

Penetrance of Congenital Heart Disease in a Mouse Model of Down Syndrome Depends on a Trisomic Potentiator of a Disomic Modifier

scientific article published on 30 March 2016

Polymorphic haplotypes ofCRELD1differentially predispose Down syndrome and euploids individuals to atrioventricular septal defect

scientific article published on 14 September 2012

Proceedings from the Turner Resource Network symposium: the crossroads of health care research and health care delivery.

scientific article

Recent Advances in Placenta–Heart Interactions.

scientific article published on 14 June 2018

Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders

scientific article

Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome

scientific article published on 06 June 2013

Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome

Structural and cellular characterization of electrospun recombinant human tropoelastin biomaterials

scientific article

Surgical treatment of patients enrolled in the national registry of genetically triggered thoracic aortic conditions

scientific article

TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome

article

The Arizona Cognitive Test Battery for Down Syndrome: Test-Retest Reliability and Practice Effects.

scientific article published in May 2017

The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations

scientific article

The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC): results from phase I and scientific opportunities in phase II.

scientific article

The Turner syndrome research registry: Creating equipoise between investigators and participants

scientific article published on 13 February 2019

The genetic basis of Turner syndrome aortopathy

scientific article published on 16 February 2019

Valve-sparing aortic root replacement in patients with Marfan syndrome enrolled in the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions.

scientific article published on May 2014

List of works by Cheryl L Maslen

ALK2 mutation in a patient with Down's syndrome and a congenital heart defect

Allelic Interaction between CRELD1 and VEGFA in the Pathogenesis of Cardiac Atrioventricular Septal Defects

Allometric considerations when assessing aortic aneurysms in Turner syndrome: Implications for activity recommendations and medical decision-making

An ethinyl estradiol-levonorgestrel containing oral contraceptive does not alter cytochrome P4502C9 in vivo activity.

An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects

An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs

Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects

Aortic Dissection in Patients With Genetically Mediated Aneurysms: Incidence and Predictors in the GenTAC Registry

Associations Between Medical History, Cognition, and Behavior in Youth With Down Syndrome: A Report From the Down Syndrome Cognition Project

Associations of Age and Sex With Marfan Phenotype: The National Heart, Lung, and Blood Institute GenTAC (Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions) Registry

Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry.

Bicuspid and unicuspid aortic valves: Different phenotypes of the same disease? Insight from the GenTAC Registry

CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome.

CRELD2: gene mapping, alternate splicing, and comparative genomic identification of the promoter region

Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms

Clopidogrel variability: role of plasma protein binding alterations

Conference summary: What we have learned and where we are headed

DNA Methylation Analysis of Turner Syndrome BAV

Development and validation of the Arizona Cognitive Test Battery for Down syndrome

GenTAC registry report: gender differences among individuals with genetically triggered thoracic aortic aneurysm and dissection

Genetic modifiers predisposing to congenital heart disease in the sensitized Down syndrome population

Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects.

Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.

Identification, genomic organization and mRNA expression of CRELD1, the founding member of a unique family of matricellular proteins

Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome

Impact of image analysis methodology on diagnostic and surgical classification of patients with thoracic aortic aneurysms

Long-term implications of emergency versus elective proximal aortic surgery in patients with Marfan syndrome in the Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Consortium Registry

Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome

Mechanical property characterization of electrospun recombinant human tropoelastin for vascular graft biomaterials

Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects

Molecular genetics of atrioventricular septal defects

Open Thoracoabdominal Aortic Repair in Patients with Heritable Aortic Disease in the GenTAC Registry

Penetrance of Congenital Heart Disease in a Mouse Model of Down Syndrome Depends on a Trisomic Potentiator of a Disomic Modifier

Polymorphic haplotypes ofCRELD1differentially predispose Down syndrome and euploids individuals to atrioventricular septal defect

Proceedings from the Turner Resource Network symposium: the crossroads of health care research and health care delivery.

Recent Advances in Placenta–Heart Interactions.

Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders

Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome

Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome

Structural and cellular characterization of electrospun recombinant human tropoelastin biomaterials

Surgical treatment of patients enrolled in the national registry of genetically triggered thoracic aortic conditions

TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome

The Arizona Cognitive Test Battery for Down Syndrome: Test-Retest Reliability and Practice Effects.

The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations

The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC): results from phase I and scientific opportunities in phase II.

The Turner syndrome research registry: Creating equipoise between investigators and participants

The genetic basis of Turner syndrome aortopathy

Valve-sparing aortic root replacement in patients with Marfan syndrome enrolled in the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions.