P. Grossfeld

发表

Mutations in NOTCH1 cause aortic valve disease

D. Srivastava, Alecia N. Muth, V. Garg, 2005, Nature.

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

L. Garrett-Sinha, E. Goldmuntz, C. Coldren, 2010, Human molecular genetics.

Fli-1 is required for murine vascular and megakaryocytic development and is hemizygously deleted in patients with thrombocytopenia.

R Favier, A. Hart, R. Favier, 2000, Immunity.

The Needle in the Haystack—Searching for Genetic and Epigenetic Differences in Monozygotic Twins Discordant for Tetralogy of Fallot

S. Sperling, Marcel Grunert, P. Grossfeld, 2020, Journal of cardiovascular development and disease.

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

M. Madani, P. Grossfeld, J. Kriett, 2010, Cardiology in the Young.

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

A. Wynshaw-Boris, L. Zelante, Xiaodong Li, 2014, American journal of medical genetics. Part A.

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

D. Elliott, F. McKenzie, D. Fatkin, 2003, Journal of the American College of Cardiology.

Cardiovascular and Musculoskeletal Assessment of Elite US Volleyball Players

P. Grossfeld, D. Dyar, Christopher K. Davis, 2015, Clinical journal of sport medicine : official journal of the Canadian Academy of Sport Medicine.

T. Travison, S. Colan, J. Krischer, 2019, The Journal of pediatrics.

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

P. Grossfeld, 2017, American journal of medical genetics. Part A.

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

A. Battaglia, G. Fisch, R. Simensen, 2010, American Journal of Medical Genetics. Part C, Seminars in Medical Genetics.

Jacobsen Syndrome

V. Dalm, P. Grossfeld, T. Mattina, 2020, Encyclopedia of Medical Immunology.

Functional analysis across model systems implicates ribosomal proteins in growth and proliferation defects associated with hypoplastic left heart syndrome

K. Ocorr, R. Bodmer, G. Duester, 2022, medRxiv.

Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrity

K. Ocorr, R. Bodmer, A. Engler, 2022, medRxiv.

Initial Experience with High Frequency Ultrasound for the Newborn C57BL Mouse

P. Grossfeld, Brent E. Anderson, J. Mathewson, 2007, Echocardiography.

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

R. Harvey, D. Winlaw, G. Sholler, 2011, American journal of medical genetics. Part A.

Congenital Heart Disease Cardiac Homeobox Gene NKX 2-5 Mutations and Congenital Heart Disease Associations With Atrial Septal Defect and Hypoplastic Left Heart Syndrome

D. Elliott, F. McKenzie, D. Fatkin, 2016 .

Fulminant myocarditis associated with pandemic H1N1 influenza A virus in children.

P. Grossfeld, J. Bradley, H. El-Said, 2010, Journal of the American College of Cardiology.

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

C. Behling, M. Sklansky, W. Auger, 2003, Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & Interventions.

Endothelial Loss of ETS1 Impairs Coronary Vascular Development and Leads to Ventricular Non-Compaction

Ju Chen, P. Grossfeld, Lizhu Lin, 2022, Circulation research.

Further delineation of cardiac abnormalities in Costello syndrome.

E. Zackai, R. Weksberg, B. Marino, 2002, American journal of medical genetics.

Familial occurrence of pulmonary atresia with intact ventricular septum.

M. Sklansky, P. Grossfeld, A. Rothman, 1997, American journal of medical genetics.

The genetics of congenital heart disease

P. Grossfeld, 2003, Journal of nuclear cardiology : official publication of the American Society of Nuclear Cardiology.

Maternal psychological impact of fetal echocardiography.

M. Sklansky, P. Grossfeld, A. Rothman, 2002, Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography.

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

K. Jones, R. Favier, F. Cotter, 2004, American journal of medical genetics. Part A.

ETS1 and HLHS: Implications for the Role of the Endocardium

P. Grossfeld, 2022, Journal of cardiovascular development and disease.

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

Lian Xu, Mengxia Fu, P. Grossfeld, 2018, American journal of medical genetics. Part A.

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

Robert H. Anderson, P. Grossfeld, Lizhu Lin, 2019, Journal of cardiovascular development and disease.

Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome)

E. Riley, S. Mattson, D. Ivy, 2009, neurogenetics.

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

P. Grossfeld, C. Davis, Nicole L. Herrick, 2017, Medicine and science in sports and exercise.

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

D. Elliott, F. McKenzie, D. Fatkin, 2003, Journal of the American College of Cardiology.

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

P. Grossfeld, 2007, Journal of the American College of Cardiology.

Hypoplastic left heart syndrome: new insights.

P. Grossfeld, 2007, Circulation research.

Hypoplastic Left Heart Syndrome

P. Grossfeld, 2007 .

The complex genetics of hypoplastic left heart syndrome

Simon Watkins, Michael Tsang, Paul Grossfeld, 2017, Nature Genetics.

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

S. Mattson, N. Akshoomoff, Marilyn C. Jones, 2019, Cold Spring Harbor molecular case studies.

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

R. Favier, P. Reinert, F. Bertoni, 2003, Thrombosis and Haemostasis.

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

M. Geraci, C. Coldren, P. Grossfeld, 2015, Clinical and translational science.

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

S. Colan, S. B. Wechsler, H. Dietz, 2014, The New England journal of medicine.

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

S. Mattson, N. Akshoomoff, P. Grossfeld, 2014, Genetics in Medicine.

Model System Identification of Novel Congenital Heart Disease Gene Candidates: focus on RPL13.

Michael S. Yu, Timothy J. Nelson, J. Rosenfeld, 2019, Human molecular genetics.

The genetics of hypoplastic left heart syndrome

P. Grossfeld, 1999, Cardiology in the Young.

Jacobsen syndrome: Advances in our knowledge of phenotype and genotype

S. Mattson, R. Favier, N. Akshoomoff, 2015, American journal of medical genetics. Part C, Seminars in medical genetics.

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

S. Colan, K. Gripp, A. Lin, 2011, American journal of medical genetics. Part A.

Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: evidence for a common mechanism of chromosome breakage.

R. Favier, K. Chien, M. James, 2000, Human molecular genetics.

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

Michael C. Ostrowski, P. Gao, Lian Xu, 2019, BMB reports.

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

P. Grossfeld, M. Hummel, J. Coad, 2006, American journal of medical genetics. Part A.

Myocardial Inflammation, Cellular Death, and Viral Detection in Sudden Infant Death Caused by SIDS, Suffocation, or Myocarditis

P. Grossfeld, H. Krous, E. Haas, 2009, Pediatric Research.

Autosomal dominant inheritance of left ventricular outflow tract obstruction

J. Roos‐Hesselink, J. Wladimiroff, R. Krijger, 2005, American journal of medical genetics. Part A.

An 11q terminal deletion and tetralogy of Fallot

P. Grossfeld, John Podraza, J. Fleenor, 2007, American journal of medical genetics. Part A.

Isolated Absent Aortic Valve: A Unique Fetal Case With Echocardiographic, Pathologic, and Genetic Correlation

S. Kingsmore, K. Dummer, P. Grossfeld, 2023, JACC: Case Reports.

A Genetic Approach to Hypoplastic left Heart Syndrome

P. Grossfeld, 2007 .

Report of the Sixth International Workshop on Human Chromosome 11 Mapping 1998

T. Thangarajah, M. Hattori, D. Gerhard, 1999, Cytogenetic and Genome Research.

Intrinsic Endocardial Defects Contribute to Hypoplastic Left Heart Syndrome.

Timothy J. Nelson, Sean M. Wu, D. Chitayat, 2020, Cell stem cell.

Single-Cell RNA-Seq Reveals Endocardial Defect in Hypoplastic Left Heart Syndrome

Timothy J. Nelson, Sean M. Wu, D. Chitayat, 2019 .

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

K. Ocorr, R. Bodmer, T. Akasaka, 2020, Journal of cardiovascular development and disease.

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

G. Andelfinger, P. Grossfeld, S. Evans, 2017, Developmental biology.

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

T. Akiyama, S. Mattson, T. Manabe, 2016, Nature Communications.

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

P. Grossfeld, J. Lamberti, Nicole L. Herrick, 2019, World journal for pediatric & congenital heart surgery.

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

P. Grossfeld, R. Reitz, Marjan Haghi, 2004, American journal of medical genetics. Part A.

Hypoplastic left heart syndrome: new genetic insights.

P. Grossfeld, Maoqing Ye, Richard J. Harvey, 2009, Journal of the American College of Cardiology.

Ocular findings in Jacobsen syndrome.

P. Grossfeld, H. O'halloran, C. Scher, 2004, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

High Level of Serum Uric Acid induced Monocyte Inflammation is Related to Coronary Calcium Deposition in the Middle-Aged and Elder Population of China: A five-year Prospective Cohort Study

P. Grossfeld, Maoqing Ye, Yiding Qi, 2022, Journal of inflammation research.

Sleep problems in individuals with 11q terminal deletion disorder (Jacobsen syndrome).

R. Didden, H. Korzilius, P. Grossfeld, 2008, Genetic counseling.

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

P. Grossfeld, J. Moore, J. Lamberti, 2018, World journal for pediatric & congenital heart surgery.

Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome

Timothy J. Nelson, K. Ocorr, R. Bodmer, 2020, eLife.

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

A. Geddis, P. Grossfeld, Maoqing Ye, 2009, American journal of medical genetics. Part A.

Randomized trial of atenolol versus losartan in children and young adults with Marfan syndrome

S. Colan, S. B. Wechsler, H. Dietz, 2014 .

UKCCCR guidelines for the use of cell lines in cancer research

T. Thangarajah, M. Hattori, N. Saitou, 1999, Cytogenetic and Genome Research.

The renal concentrating defect after gentamicin administration in the rat.

R. Anderson, S. Guggenheim, P. Grossfeld, 1983, The Journal of laboratory and clinical medicine.