List of works - Paul Grossfeld

An 11q terminal deletion and tetralogy of Fallot

scientific article published on 01 May 2007

Arterial Switch Operation in a Patient With Ehlers-Danlos Syndrome Type IV

scientific article published on 08 October 2018

Atenolol versus losartan in children and young adults with Marfan's syndrome

scientific article

Autosomal dominant inheritance of left ventricular outflow tract obstruction

scientific article published on 01 April 2005

Balloon angioplasty and stenting of multiple intralobar pulmonary arterial stenoses in adult patients

scientific article

Brain hemorrhages in Jacobsen syndrome: A retrospective review of six cases and clinical recommendations.

scientific article published in March 2017

Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome.

scientific article

Cardiovascular and Musculoskeletal Assessment of Elite US Volleyball Players

scientific article published on 10 February 2015

Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.

scientific article

Cognitive‐behavioral features of Wolf–Hirschhorn syndrome and other subtelomeric microdeletions ⬇️

scientific article published on November 15, 2010

Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice

scientific article

Deletion of JAM-C, a candidate gene for heart defects in Jacobsen syndrome, results in a normal cardiac phenotype in mice

scientific article published on 01 July 2009

Endocrine abnormalities in patients with Jacobsen (11q-) syndrome

scientific article published on 01 August 2004

Endothelial-specific deletion of Ets-1 attenuates Angiotensin II-induced cardiac fibrosis via suppression of endothelial-to-mesenchymal transition

scientific article published on 01 October 2019

Evidence That Deletion of ETS-1, a Gene in the Jacobsen Syndrome (11q-) Cardiac Critical Region, Causes Congenital Heart Defects through Impaired Cardiac Neural Crest Cell Function

Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q.

scientific article

Fulminant myocarditis associated with pandemic H1N1 influenza A virus in children

scientific article published on 12 February 2010

Further delineation of cardiac abnormalities in Costello syndrome

scientific article

Gene-targeted deletion in mice of the Ets-1 transcription factor, a candidate gene in the Jacobsen syndrome kidney "critical region," causes abnormal kidney development

scientific article published on 13 November 2018

Gene-targeted deletion of OPCML and Neurotrimin in mice does not yield congenital heart defects.

scientific article published on 10 March 2014

Hypoplastic Left Heart Syndrome: A New Paradigm for an Old Disease?

scientific article published on 23 February 2019

Hypoplastic left heart syndrome: it is all in the genes.

scientific article

Hypoplastic left heart syndrome: new genetic insights

scientific article published on 01 March 2009

Hypoplastic left heart syndrome: new insights

scientific article published on 01 May 2007

Initial experience with high frequency ultrasound for the newborn C57BL mouse

scientific article published in April 2007

Jacobsen syndrome.

scientific article

Jacobsen syndrome: Advances in our knowledge of phenotype and genotype

scientific article

Maternal psychological impact of fetal echocardiography

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 an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome.

scientific article published in April 2006

Mutations in NOTCH1 cause aortic valve disease

scientific article

Myocardial inflammation, cellular death, and viral detection in sudden infant death caused by SIDS, suffocation, or myocarditis

scientific article published in July 2009

Ocular findings in Jacobsen syndrome

scientific article published on April 2004

Overexpression of Kif1A in the Developing Drosophila Heart Causes Valvar and Contractility Defects: Implications for Human Congenital Heart Disease

scientific article published on 02 June 2020

PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking

scientific article (publication date: 2016)

Paris-Trousseau syndrome : clinical, hematological, molecular data of ten new cases ⬇️

scientific article published on November 1, 2003

Partial Jacobsen syndrome phenotype in a patient with a de novo frameshift mutation in the ETS1 transcription factor.

scientific article

Somatic mutations in NKX2–5, GATA4, and HAND1 are not a common cause of tetralogy of Fallot or hypoplastic left heart

scientific article published on 01 October 2011

Successful Management of a Patient With Jacobsen Syndrome and Hypoplastic Left Heart Syndrome

scientific article published on 22 May 2019

Successful surgical closure of an arterial duct in 18 children in a third world country

scientific article

The 11q terminal deletion disorder: a prospective study of 110 cases.

scientific article published in August 2004

The complex genetics of hypoplastic left heart syndrome.

scientific article

The genetics of congenital heart disease

scientific article

Tissue specific requirements for WNT11 in developing outflow tract and dorsal mesenchymal protrusion

scientific article published on 29 June 2017

Transcriptional Impact of Rare and Private Copy Number Variants in Hypoplastic Left Heart Syndrome

scientific article

Utility of Genetic Testing in Elite Volleyball Players with Aortic Root Dilation

scientific article

List of works by Paul Grossfeld

An 11q terminal deletion and tetralogy of Fallot

Arterial Switch Operation in a Patient With Ehlers-Danlos Syndrome Type IV

Atenolol versus losartan in children and young adults with Marfan's syndrome

Autosomal dominant inheritance of left ventricular outflow tract obstruction

Balloon angioplasty and stenting of multiple intralobar pulmonary arterial stenoses in adult patients

Brain hemorrhages in Jacobsen syndrome: A retrospective review of six cases and clinical recommendations.

Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome.

Cardiovascular and Musculoskeletal Assessment of Elite US Volleyball Players

Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.

Cognitive‐behavioral features of Wolf–Hirschhorn syndrome and other subtelomeric microdeletions ⬇️

Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice

Deletion of JAM-C, a candidate gene for heart defects in Jacobsen syndrome, results in a normal cardiac phenotype in mice

Endocrine abnormalities in patients with Jacobsen (11q-) syndrome

Endothelial-specific deletion of Ets-1 attenuates Angiotensin II-induced cardiac fibrosis via suppression of endothelial-to-mesenchymal transition

Evidence That Deletion of ETS-1, a Gene in the Jacobsen Syndrome (11q-) Cardiac Critical Region, Causes Congenital Heart Defects through Impaired Cardiac Neural Crest Cell Function

Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q.

Fulminant myocarditis associated with pandemic H1N1 influenza A virus in children

Further delineation of cardiac abnormalities in Costello syndrome

Gene-targeted deletion in mice of the Ets-1 transcription factor, a candidate gene in the Jacobsen syndrome kidney "critical region," causes abnormal kidney development

Gene-targeted deletion of OPCML and Neurotrimin in mice does not yield congenital heart defects.

Hypoplastic Left Heart Syndrome: A New Paradigm for an Old Disease?

Hypoplastic left heart syndrome: it is all in the genes.

Hypoplastic left heart syndrome: new genetic insights

Hypoplastic left heart syndrome: new insights

Initial experience with high frequency ultrasound for the newborn C57BL mouse

Jacobsen syndrome.

Jacobsen syndrome: Advances in our knowledge of phenotype and genotype

Maternal psychological impact of fetal echocardiography

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

Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome.

Mutations in NOTCH1 cause aortic valve disease

Myocardial inflammation, cellular death, and viral detection in sudden infant death caused by SIDS, suffocation, or myocarditis

Ocular findings in Jacobsen syndrome

Overexpression of Kif1A in the Developing Drosophila Heart Causes Valvar and Contractility Defects: Implications for Human Congenital Heart Disease

PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking

Paris-Trousseau syndrome : clinical, hematological, molecular data of ten new cases ⬇️

Partial Jacobsen syndrome phenotype in a patient with a de novo frameshift mutation in the ETS1 transcription factor.

Somatic mutations in NKX2–5, GATA4, and HAND1 are not a common cause of tetralogy of Fallot or hypoplastic left heart

Successful Management of a Patient With Jacobsen Syndrome and Hypoplastic Left Heart Syndrome

Successful surgical closure of an arterial duct in 18 children in a third world country

The 11q terminal deletion disorder: a prospective study of 110 cases.

The complex genetics of hypoplastic left heart syndrome.

The genetics of congenital heart disease

Tissue specific requirements for WNT11 in developing outflow tract and dorsal mesenchymal protrusion

Transcriptional Impact of Rare and Private Copy Number Variants in Hypoplastic Left Heart Syndrome

Utility of Genetic Testing in Elite Volleyball Players with Aortic Root Dilation