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Jacobsen Distal 11q Deletion Syndrome

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Recent Publications on Jacobsen Distal 11q Deletion Syndrome:

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Deletion of JAM-C, a candidate gene for heart defects in Jacobsen syndrome, results in a normal cardiac phenotype in mice.
The 11q terminal deletion disorder (11q-) is a rare chromosomal disorder...
24th September, 2009
Department of Pediatrics, Division of Cardiology, UCSD School of Medicine, Am J Med Genet A. 2009 Jul;149A(7):1438-43.
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Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): a patient report and review.
We present a family with multiple cytogenetic abnormalities, identified...
24th September, 2009
Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands. Am J Med Genet A. 2009 Jul;149A(7):1468-75.
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Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome).
We performed a prospective analysis on 14 11q- patients to determine the...
6th August, 2009
Department of Pulmonary Medicine, University of Colorado Health Sciences Neurogenetics. 2009 Apr;10(2):89-95. Epub 2008 Oct 15.
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Cell type specificity of PI3K signaling in Pdk1- and Pten-deficient brains.
Loss of PTEN causes unregulated activation of downstream components of...
21st July, 2009
Department of Developmental Neurobiology, St. Jude Children's Research Genes Dev. 2009 Jul 15;23(14):1619-24.
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Jacobsen syndrome.
Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial...
30th June, 2009
Genetica Medica, Department of Pediatrics, University of Catania, Catania, Orphanet J Rare Dis. 2009 Mar 7;4:9.
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Press Releases About Jacobsen Distal 11q Deletion Syndrome:

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Merck Receives CHMP Positive Opinion for New Fertility Treatment, ELONVA(R) 20th November, 2009 Merck & Co., Inc.
WHITEHOUSE STATION, N.J., Nov. 20 /PRNewswire-FirstCall/ -- Merck & Co., Inc. today announced the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMEA) has
Viron reports positive Phase II data in Acute Coronary Syndromes (ACS) patients 18th November, 2009 Viron Therapeutics Inc.
VT-111 significantly reduces key cardiac enzymes at multiple time points after stent placement; Data presented at American Heart Association 2009 Scientific Sessions LONDON, ON, Nov. 18 /PRNewswire/
Oklahoma Medical Research Foundation Accelerates Discovery With Isilon IQ 18th November, 2009 Isilon Systems
SEATTLE, Nov. 18 /PRNewswire-FirstCall/ -- IsilonĀ® Systems (Nasdaq: ISLN) today announced that the Oklahoma Medical Research Foundation (OMRF), a nonprofit biomedical research institute, has
Albireo Announces Positive Clinical Data on A3309 in Patients with Chronic Idiopathic Constipation 18th November, 2009 Albireo
GOTHENBURG, Sweden, November 18 /PRNewswire/ -- Albireo today announced the completion of a phase 1b study showing a favorable tolerability and safety profile of A3309 in patients with chronic
Albireo Announces Positive Clinical Data on A3309 in Patients with Chronic Idiopathic Constipation 18th November, 2009
GOTHENBURG, Sweden, November 18 /PRNewswire/ -- Albireo today announced the completion of a phase 1b study showing a favourable tolerability and safety profile of A3309 in patients with chronic

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