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Jacobsen综合征 > 动态

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

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2807373/
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Jacobsen syndrome

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2670819/
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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)

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3050515/
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Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2

https://www.ncbi.nlm.nih.gov/m/pubmed/7603564/?i=33&from=mattina%20t
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Micromegakaryocytes in a patient with partial deletion of the long arm of chromosome 11 [del(11)(q24.2qter)] and chronic thrombocytopenic purpura.

https://www.ncbi.nlm.nih.gov/m/pubmed/8882392/?i=31&from=mattina%20t
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Clinical and molecular characterization of patients with distal 11q deletions.

https://www.ncbi.nlm.nih.gov/m/pubmed/7887422/?i=34&from=mattina%20t
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The 11q terminal deletion disorder: a prospective study of 110 cases.

https://www.ncbi.nlm.nih.gov/m/pubmed/15266616/?i=23&from=mattina%20t
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Dysmegakaryopoietic thrombocytopenia in patients with distal chromosome 11q deletion.

https://www.ncbi.nlm.nih.gov/m/pubmed/8639871/?i=30&from=mattina%20t
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