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About 198 results

ALLMedicine™ Jacobsen Syndrome Center

Research & Reviews  99 results

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 4th, 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...

Topical cidofovir for the treatment of recalcitrant viral warts and molluscum contagios...
https://doi.org/10.1111/pde.14355
Pediatric Dermatology REFERENCES; Alsaleemi A, O'Connor C et. al.

Sep 8th, 2020 - Jacobsen syndrome is caused by a terminal deletion on the long arm of chromosome 11 and can be associated with immunodeficiency. Patients with Jacobsen syndrome can be predisposed to cutaneous viral infections that are difficult to treat. We repor...

Chromoanasynthesis as a cause of Jacobsen syndrome.
https://doi.org/10.1002/ajmg.a.61824
American Journal of Medical Genetics. Part A; Anzick S, Thurm A et. al.

Aug 25th, 2020 - Jacobsen syndrome (MIM #147791) is a rare multisystem genomic disorder involving craniofacial abnormalities, intellectual disability, other neurodevelopmental defects, and terminal truncation of chromosome 11q, typically deleting ~170 to >340 gene...

White matter abnormality in Jacobsen syndrome assessed by serial MRI.
https://doi.org/10.1016/j.braindev.2020.05.001
Brain & Development; Fujino S, Yoshihashi H et. al.

Jun 8th, 2020 - Jacobsen syndrome (JS) is caused by a deletion at the terminus of the long arm of chromosome 11. There are few reports of JS associated with cerebral white matter abnormalities (WMA), and the etiology, pathophysiology, and time-dependent changes i...

Editors' note: Teaching NeuroImages: A rare case of Jacobsen syndrome with global diffu...
https://doi.org/10.1212/WNL.0000000000009066
Neurology Ganesh A, Galetta S

Mar 9th, 2020 - Editors' note: Teaching NeuroImages: A rare case of Jacobsen syndrome with global diffuse hypomyelination of brain.|2020|Ganesh A,Galetta S,|

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Clinicaltrials.gov  99 results

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 4th, 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...

Topical cidofovir for the treatment of recalcitrant viral warts and molluscum contagios...
https://doi.org/10.1111/pde.14355
Pediatric Dermatology REFERENCES; Alsaleemi A, O'Connor C et. al.

Sep 8th, 2020 - Jacobsen syndrome is caused by a terminal deletion on the long arm of chromosome 11 and can be associated with immunodeficiency. Patients with Jacobsen syndrome can be predisposed to cutaneous viral infections that are difficult to treat. We repor...

Chromoanasynthesis as a cause of Jacobsen syndrome.
https://doi.org/10.1002/ajmg.a.61824
American Journal of Medical Genetics. Part A; Anzick S, Thurm A et. al.

Aug 25th, 2020 - Jacobsen syndrome (MIM #147791) is a rare multisystem genomic disorder involving craniofacial abnormalities, intellectual disability, other neurodevelopmental defects, and terminal truncation of chromosome 11q, typically deleting ~170 to >340 gene...

White matter abnormality in Jacobsen syndrome assessed by serial MRI.
https://doi.org/10.1016/j.braindev.2020.05.001
Brain & Development; Fujino S, Yoshihashi H et. al.

Jun 8th, 2020 - Jacobsen syndrome (JS) is caused by a deletion at the terminus of the long arm of chromosome 11. There are few reports of JS associated with cerebral white matter abnormalities (WMA), and the etiology, pathophysiology, and time-dependent changes i...

Editors' note: Teaching NeuroImages: A rare case of Jacobsen syndrome with global diffu...
https://doi.org/10.1212/WNL.0000000000009066
Neurology Ganesh A, Galetta S

Mar 9th, 2020 - Editors' note: Teaching NeuroImages: A rare case of Jacobsen syndrome with global diffuse hypomyelination of brain.|2020|Ganesh A,Galetta S,|

see more →