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About 118 results

ALLMedicine™ Jacobsen Syndrome Center

Research & Reviews  47 results

Neonatal interstitial lung disease in a girl with Jacobsen syndrome: a case report.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8944088
Journal of Medical Case Reports; Dalen ML, Vigerust NF et. al.

Mar 25th, 2022 - We report a case of the neonatal interstitial lung disease pulmonary interstitial glycogenosis in a girl with Jacobsen syndrome. While Jacobsen syndrome is caused by a deletion on the long arm of chromosome 11 and is genetically confirmed, pulmona...

Spectrum of Genetic T-Cell Disorders from 22q11.2DS to CHARGE.
https://doi.org/10.1007/s12016-022-08927-z 10.1136/jmg.30.10.803 10.1038/85845 10.1016/j.ajhg.2014.12.025 10.1016/j.jaip.2019.05.050 10.1002/humu.20330 10.1016/j.jaci.2004.01.766 10.1136/adc.2006.097493 10.1542/peds.2013-0831 10.1016/j.jaci.2010.07.018 10.1016/j.jaci.2017.03.020 10.3892/etm.2017.5362 10.1136/jmg.37.1.33 10.1007/s10875-015-0211-z 10.1016/j.ajhg.2019.07.014 10.1182/blood-2010-06-292490 10.1172/JCI127565
Clinical Reviews in Allergy & Immunology; Urschel D, Hernandez-Trujillo VP

Feb 9th, 2022 - Improved genetic testing has led to recognition of a diverse group of disorders of inborn errors of immunity that present as primarily T-cell defects. These disorders present with variable degrees of immunodeficiency, autoimmunity, multiple organ ...

Alteration of the Arcuate Fasciculus in Jacobsen Syndrome Shown by Diffusion Tensor Ima...
https://doi.org/10.1016/j.pediatrneurol.2021.03.012
Pediatric Neurology; Kumar A, Sakakura K et. al.

May 8th, 2021 - Alteration of the Arcuate Fasciculus in Jacobsen Syndrome Shown by Diffusion Tensor Imaging.|2021|Kumar A,Sakakura K,Mitsuhashi T,Railean A,Luat AF,|

Loss of FEZ1, a gene deleted in Jacobsen syndrome, causes locomotion defects and early ...
https://doi.org/10.1093/hmg/ddaa281
Human Molecular Genetics; Gunaseelan S, Wang Z et. al.

Jan 5th, 2021 - FEZ1-mediated axonal transport plays important roles in central nervous system development but its involvement in the peripheral nervous system is not well-characterized. FEZ1 is deleted in Jacobsen syndrome (JS), an 11q terminal deletion developm...

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