Interstitial deletion of 11q-implicating theKIRREL3gene in the neurocognitive delay associated with Jacobsen syndrome

Barx2 and Fgf10 regulate ocular glands branching morphogenesis by controlling extracellular matrix remodeling

(2011) C. Tsau et al.   DEVELOPMENT

Fli1 Is a Negative Regulator of Estrogen Receptor α in Dermal Fibroblasts

(2011) Tomoyasu Hattori et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Role of Neph2 in pontine nuclei formation in the developing hindbrain

(2011) Kazuhiko Nishida et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

K+ Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension

(2011) M. Choi et al.   SCIENCE

Endothelial Fli1 Deficiency Impairs Vascular Homeostasis

(2010) Yoshihide Asano et al.   AMERICAN JOURNAL OF PATHOLOGY

Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): A patient report and review

(2009) Laura J.C.M. Van Zutven 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

Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome)

(2009) Emmanouil Manolakos et al.   Molecular Cytogenetics

Alterations in CDH15 and KIRREL3 in Patients with Mild to Severe Intellectual Disability

(2008) Kavita Bhalla et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an ∼5 Mb deletion del(11)(q24.3)

(2008) Joanna Bernaciak et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray

(2008) Erin L Baldwin et al.   GENETICS IN MEDICINE

Regulation of dendritic spine morphology by an NMDA receptor-associated Rho GTPase-activating protein, p250GAP

(2008) Takanobu Nakazawa et al.   JOURNAL OF NEUROCHEMISTRY

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

Predisposition to late-onset obesity in GIRK4 knockout mice

(2008) C. A. Perry et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH

(2008) Christine Tyson et al.   Molecular Cytogenetics