ArticleCold Spring Harbor molecular case studies2019
Partial Jacobsen syndrome phenotype in a patient with a de novo frameshift mutation in the ETS1 transcription factor.
Article in Cold Spring Harbor molecular case studies, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- Forensic pathological analysis of sudden cardiac death in 10 cases with congenital coronary ostial stenosis: a technical report.Forensic science, medicine, and pathology · 2026Pooled it
- Genetic etiology and phenotypic characteristics of fetuses with 11q deletion syndrome (11q23.3-q25).Experimental and therapeutic medicine · 2026Article
- Ets1-regulated endothelial-secreted factors promote compact myocardial growth and contribute to the pathogenesis of ventricular non-compaction.Cardiovascular research · 2026Article
- Changes in effective connectivity during the visual-motor integration tasks: a preliminary f-NIRS study.Behavioral and brain functions : BBF · 2024Article
- GATA4 Regulates Developing Endocardium Through Interaction With ETS1.Circulation research · 2022Article
- Patients with Chromosome 11q Deletions Are Characterized by Inborn Errors of Immunity Involving both B and T Lymphocytes.Journal of clinical immunology · 2022Article
- Endothelial Loss of ETS1 Impairs Coronary Vascular Development and Leads to Ventricular Non-Compaction.Circulation research · 2022Article
- Immunological Evaluation of Patients Affected with Jacobsen Syndrome Reveals Profound Not Age-Related Lymphocyte Alterations.Journal of clinical immunology · 2022Article
- Case report:Frontiers in immunology · 2022Article
- Fragile sites, chromosomal lesions, tandem repeats, and disease.Frontiers in genetics · 2022Review
- Hematological indices in pediatric patients with acyanotic congenital heart disease: a cross-sectional study of 248 patients.The Egyptian journal of medical human genetics · 2022Article
- Jacobsen syndrome and neonatal bleeding: report on two unrelated patients.Italian journal of pediatrics · 2021Article
- Review
- Intrinsic Endocardial Defects Contribute to Hypoplastic Left Heart Syndrome.Cell stem cell · 2020Article
- A three-tiered integrative analysis of transcriptional data reveals the shared pathways related to heart failure from different aetiologies.Journal of cellular and molecular medicine · 2020Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
Abstract
Jacobsen syndrome (OMIM #147791) is a rare contiguous gene disorder caused by deletions in distal 11q. The clinical phenotype is variable and can include dysmorphic features, varying degrees of intellectual disability, behavioral problems including autism and attention deficit hyperactivity disorder, congenital heart defects, structural kidney defects, genitourinary problems, immunodeficiency, and a bleeding disorder due to impaired platelet production and function. Previous studies combining both human and animal systems have implicated several disease-causing genes in distal 11q that contribute to the Jacobsen syndrome phenotype. One gene,
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