De novo mutation in the ARHGAP32 gene endorses the implication of GTPase-activating proteins (RhoGAP family) in idiopathic autism spectrum disorder.

A case with a de novo chromosome 8.9 Mb 11pter duplication and 6.4 Mb 11qter deletion derived from a father with a normal karyotype.

Clinical and neuropsychological characterization of Jacobsen syndrome (del11q).

Ets1-regulated endothelial-secreted factors promote compact myocardial growth and contribute to the pathogenesis of ventricular non-compaction.

Jacobsen Syndrome With White Matter Abnormalities: A Case Report and MRI Follow-Up.

Jacobsen Syndrome: A Case Report With Olfactory Bulb Agenesis, Severe Endocrinopathy, and Neurodevelopmental Delay.

Evaluation of the synapse adhesion molecule Kirrel3 in neurological disease.

Kaposi-Juliusberg syndrome in a young man with Jacobsen syndrome.

Jacobsen Syndrome, Paris-Trousseau Syndrome, and Dental Extractions: Case Report, Medical, Dental, and Social Considerations.

Prenatal Diagnosis of Unbalanced Translocation t(5;11)(q21;q22) With a Jacobsen Syndrome Clinical Phenotype.

Familial Exudative Vitreoretinopathy in a Patient with Jacobsen Syndrome: A Case Report.

Interstitial 11q Deletions and Terminal 11q Duplications Cause a Bleeding Tendency due to Platelet Dysfunction That Is Similar to 11q Deletions Causing Jacobsen Syndrome.

Jacobsen syndrome associated with Shone's complex: a case report.

Prenatal diagnosis of Jacobsen syndrome associated with a distal 11q deletion and a distal 8q duplication by chromosome microarray analysis in a fetus with a de novo unbalanced translocation of 46,XX,der(11)t(8;11)(q24.13;q23.3) and multiple congenital anomalies on fetal ultrasound.

Human Genetics of Tetralogy of Fallot and Double-Outlet Right Ventricle.

Human Genetics of Ventricular Septal Defect.

A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases.

FEZ1 participates in human embryonic brain development by modulating neuronal progenitor subpopulation specification and migrations.

Recurrent pneumonia in a child with Jacobsen syndrome and common variable immune deficiency.

Hematological abnormalities in Jacobsen syndrome: cytopenia of varying severities and morphological abnormalities in peripheral blood and bone marrow.

Jacobsen Syndrome in a Patient with Combined Immunodeficiency, Thrombocytopenia, and Lymphoma.

Jacobsen syndrome: Chromosome deletion at llq23.

Jacobsen Syndrome with Hypoplastic Left Heart Syndrome: Outcome after Cardiac Transplantation.

Prenatal Identification and Confirmation of Jacobsen Syndrome: A Series of Four Cases.

Case report: ETS1 gene deletion associated with a low number of recent thymic emigrants in three patients with Jacobsen syndrome.

Detailed analysis of mortality rates in the female progeny of 1,001 Holstein bulls allows the discovery of new dominant genetic defects.

Deletion of 11q24.2-qter in a male child with cleft lip and palate: an atypical feature of Jacobsen syndrome.

Utility of thromboelastogram in cardiac surgery in Jacobsen syndrome associated with platelet dysfunction: a case report.

ETS1 loss in mice impairs cardiac outflow tract septation via a cell migration defect autonomous to the neural crest.

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

ETS1 and HLHS: Implications for the Role of the Endocardium.

Patients with Chromosome 11q Deletions Are Characterized by Inborn Errors of Immunity Involving both B and T Lymphocytes.

First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25).

Neonatal interstitial lung disease in a girl with Jacobsen syndrome: a case report.

Spectrum of Genetic T-Cell Disorders from 22q11.2DS to CHARGE.

Immunodeficiency and Lymphoma in Jacobsen Syndrome.

Jacobsen syndrome with bilateral periventricular white matter lesions.

Immunological Evaluation of Patients Affected with Jacobsen Syndrome Reveals Profound Not Age-Related Lymphocyte Alterations.

Recurrent Spontaneous Intracranial Hemorrhage in a Patient With Jacobsen Syndrome.

Immune Deficiency in Jacobsen Syndrome: Molecular and Phenotypic Characterization.

Jacobsen syndrome and neonatal bleeding: report on two unrelated patients.

Alteration of the Arcuate Fasciculus in Jacobsen Syndrome Shown by Diffusion Tensor Imaging.

Loss of FEZ1, a gene deleted in Jacobsen syndrome, causes locomotion defects and early mortality by impairing motor neuron development.

Ten-year use of recombinant parathyroid hormone for the treatment of hypoparathyroidism in a boy with partial Jacobsen syndrome.

Topical cidofovir for the treatment of recalcitrant viral warts and molluscum contagiosum in Jacobsen syndrome.

Chromoanasynthesis as a cause of Jacobsen syndrome.

Multiple cerebral cysts are another possible feature of Jacobsen syndrome.

White matter abnormality in Jacobsen syndrome assessed by serial MRI.

Reader response: Teaching NeuroImages: A rare case of Jacobsen syndrome with global diffuse hypomyelination of brain.

Ultrasonographic findings and prenatal diagnosis of Jacobsen syndrome: A case report and review of the literature.

Scurvy Findings in a Child with Jacobsen Syndrome: A Case Report.

[Prenatal diagnosis of Jacobsen syndrome in a fetus carried by a pregnant woman with intellectual disability].

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

Obstructive Sleep Apnea in Jacobsen Syndrome.

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

Teaching NeuroImages: A rare case of Jacobsen syndrome with global diffuse hypomyelination of brain.

11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA.

Hypoplastic Left Heart Syndrome: A New Paradigm for an Old 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.

Neph2/Kirrel3 regulates sensory input, motor coordination, and home-cage activity in rodents.

Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy.

Ventriculomegaly and cerebellar hypoplasia in a neonate with interstitial 11q 24 deletion in Jacobsen syndrome region.

Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling.

11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report.

FLI1 level during megakaryopoiesis affects thrombopoiesis and platelet biology.

Increased Excitatory Synaptic Transmission of Dentate Granule Neurons in Mice Lacking PSD-95-Interacting Adhesion Molecule Neph2/Kirrel3 during the Early Postnatal Period.

Molecular cytogenetic characterization of Jacobsen syndrome (11q23.3-q25 deletion) in a fetus associated with double outlet right ventricle, hypoplastic left heart syndrome and ductus venosus agenesis on prenatal ultrasound.

Complex Mosaic Ring Chromosome 11 Associated with Hemizygous Loss of 8.6 Mb of 11q24.2qter in Atypical Jacobsen Syndrome.

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

Morphological and genetic abnormalities in a Jacobsen syndrome.

11q terminal deletion and combined immunodeficiency (Jacobsen syndrome): Case report and literature review on immunodeficiency in Jacobsen syndrome.

Jacobsen syndrome, Braddock-Carey syndrome, and Beyond: Reflections on intellectual disability accompanied with thrombocytopenia.

A case of Jacobsen syndrome with multifocal white matter lesions.

de novo interstitial deletions at the 11q23.3-q24.2 region.

Jacobsen Syndrome: Surgical Complications due to Unsuspected Diagnosis, the Importance of Molecular Studies in Patients with Craniosynostosis.

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

Endocrine abnormalities in ring chromosome 11: a case report and review of the literature.

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

Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay.

11q24.2-25 micro-rearrangements in autism spectrum disorders: Relation to brain structures.

Paris-Trousseau thrombocytopenia is phenocopied by the autosomal recessive inheritance of a DNA-binding domain mutation in FLI1.

Jacobsen syndrome: Advances in our knowledge of phenotype and genotype.

Mice lacking the synaptic adhesion molecule Neph2/Kirrel3 display moderate hyperactivity and defective novel object preference.

[Prenatal diagnosis of a case with combined Wolf-Hirschhorn syndrome and Jacobsen syndrome].

Leukoencephalopathy associated with 11q24 deletion involving the gene encoding hepatic and glial cell adhesion molecule in two patients.

Mice Haploinsufficient for Ets1 and Fli1 Display Middle Ear Abnormalities and Model Aspects of Jacobsen Syndrome.

A Case Report: Jacobsen Syndrome Complicated by Paris-Trousseau Syndrome and Shone's Complex.

Autism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16 with Potential Roles in Neurodevelopment.

Partial monosomy of 11q22.2q22.3 including the SDHD gene in individuals with developmental delay.

Clinical and molecular evaluations of siblings with "pure" 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3).

Jacobsen syndrome detected by noninvasive prenatal testing.