Jacobsen syndrome: Advances in our knowledge of phenotype and genotype

Dual developmental role of transcriptional regulator Ets1 in Xenopus cardiac neural crest vs. heart mesoderm

(2015) Shuyi Nie et al.   CARDIOVASCULAR RESEARCH

The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency

(2015) Virgil A. S. H. Dalm et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Gene-targeted deletion ofOPCMLandNeurotriminin mice does not yield congenital heart defects

(2014) Maoqing Ye et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data

(2014) Joseph T. Glessner et al.   CIRCULATION RESEARCH

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

(2014) Natacha Akshoomoff et al.   GENETICS IN MEDICINE

Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects

(2013) J. Stockley et al.   BLOOD

Review of Ets1 structure, function, and roles in immunity

(2013) Lee Ann Garrett-Sinha   CELLULAR AND MOLECULAR LIFE SCIENCES

Optimizing blood collection, transport and storage conditions for cell free DNA increases access to prenatal testing

(2013) David Wong et al.   CLINICAL BIOCHEMISTRY

MYH10 protein expression in platelets as a biomarker of RUNX1 and FLI1 alterations

(2012) I. Antony-Debre et al.   BLOOD

RUNX1-induced silencing of non-muscle myosin heavy chain IIB contributes to megakaryocyte polyploidization

(2012) Larissa Lordier et al.   Nature Communications

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

(2009) Maoqing Ye et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2009) Maoqing Ye et al.   HUMAN MOLECULAR GENETICS

Jacobsen syndrome

(2009) Teresa Mattina et al.   Orphanet Journal of Rare Diseases

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

(2008) C. D. Coldren et al.   NEUROGENETICS