Lista de obras -

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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico

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

artículo científico publicado en 2006

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

artículo científico publicado en 2006

Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms

artículo científico publicado en 2016

Clopidogrel variability: role of plasma protein binding alterations ⬇️

artículo científico publicado el 1 de junio de 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

artículo científico publicado en 2022

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

artículo científico publicado en 2010

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

artículo científico publicado el 26 de febrero de 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

artículo científico publicado en 2002

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

artículo científico publicado en 2020

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

artículo científico publicado en 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 ⬇️

artículo científico publicado el 20 de noviembre de 2011

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

artículo científico publicado en 2004

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

artículo científico publicado en 2011

Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects

artículo científico publicado en 2003

Molecular genetics of atrioventricular septal defects

artículo científico publicado en 2004

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

artículo científico publicado en 2019

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

Recent Advances in Placenta–Heart Interactions.

artículo científico publicado en 2018

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

artículo científico publicado en 2008

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

artículo científico publicado el 6 de junio de 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 ⬇️

artículo científico publicado el 17 de mayo de 2011

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

artículo científico publicado en 2009

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.

artículo científico publicado en 2017

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

artículo científico publicado en 2009

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

artículo científico publicado el 1 de octubre de 2011

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

artículo científico publicado en 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.

artículo científico publicado en 2014

Lista de obras de

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.