Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q, Genet. Med, vol.17, pp.143-148, 2015. ,
FoxF is essential for FGF-induced migration of heart progenitor cells in the ascidian Ciona intestinalis, Dev. Camb. Engl, vol.134, pp.3297-3305, 2007. ,
Alterations in CDH15 and KIRREL3 in Patients with Mild to Severe Intellectual Disability, Am. J. Hum. Genet, vol.83, pp.703-713, 2008. ,
2016. 11q terminal deletion and combined immunodeficiency (Jacobsen syndrome): Case report and literature review on immunodeficiency in Jacobsen syndrome, Am. J. Med. Genet. A, vol.170, pp.3237-3240 ,
A Role for the Long Noncoding RNA SENCR in Commitment and Function of Endothelial Cells, Mol. Ther. J. Am. Soc. Gene Ther, vol.24, pp.978-990, 2016. ,
Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34-year-old patient with Jacobsen syndrome, Am. J. Med. Genet. A, vol.126, pp.293-298, 2004. ,
Mice Haploinsufficient for Ets1 and Fli1 Display Middle Ear Abnormalities and Model Aspects of Jacobsen Syndrome, Am. J. Pathol, vol.185, pp.1867-1876, 2015. ,
Mice lacking the synaptic adhesion molecule Neph2/Kirrel3 display moderate hyperactivity and defective novel object preference, Front. Cell. Neurosci, vol.9, p.283, 2015. ,
Distal 11q monosomy. The typical 11q monosomy syndrome is due to deletion of subband 11q24, Clin. Genet, vol.1, pp.255-260, 1986. ,
Transverse limb defect in a patient with Jacobsen syndrome: Concurrence of malformation and disruption, Am. J. Med. Genet. A, vol.152, pp.1033-1035, 2010. ,
Increased Frequency of De Novo Copy Number Variations in Congenital Heart Disease by Integrative Analysis of SNP Array and Exome Sequence Data, Circ. Res, vol.115, pp.884-896, 2014. ,
The 11q terminal deletion disorder: A prospective study of 110 cases, Am. J. Med. Genet, vol.129, pp.51-61, 2004. ,
Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome, Am. J. Med. Genet. A, vol.158, pp.2551-2556, 2012. ,
Fli-1 is required for murine vascular and megakaryocytic development and is hemizygously deleted in patients with thrombocytopenia, Immunity, vol.13, pp.167-177, 2000. ,
Abnormal behaviours relevant to neurodevelopmental disorders in Kirrel3-knockout mice, Sci. Rep, vol.8, p.1408, 2018. ,
, Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity, Hum. Mol. Genet, vol.6, pp.17-26, 1997.
An (11;21) Translocation in Four Generations with Chromosome 11 Abnormalities in the Offspring, Hum. Hered, vol.23, pp.568-585, 1973. ,
Opposing Functions of the ETS Factor Family Define Shh Spatial Expression in Limb Buds and Underlie Polydactyly, Dev. Cell, vol.22, pp.459-467, 2012. ,
Jacobsen syndrome, Orphanet J. Rare Dis, vol.4, p.9, 2009. ,
Dual developmental role of transcriptional regulator Ets1 in Xenopus cardiac neural crest vs. heart mesoderm, Cardiovasc. Res, vol.106, pp.67-75, 2015. ,
Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region, Am. J. Med. Genet. A, vol.164, pp.511-515, 2014. ,
Paris-Trousseau thrombocytopenia is phenocopied by the autosomal recessive inheritance of a DNA-binding domain mutation in FLI1, Blood, vol.126, pp.2027-2030, 2015. ,
Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects, Blood, vol.122, pp.4090-4093, 2013. ,
Interstitial 11q24 deletion: a new case and review of the literature, J. Appl. Genet, vol.57, pp.357-362, 2016. ,
Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice, Hum. Mol. Genet, vol.19, pp.648-656, 2010. ,
Genetargeted 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 in mice of the Ets?1 transcription factor, a candidate gene in the Jacobsen syndrome kidney "critical region," causes abnormal, Am. J. Med. Genet. A, 2018. ,