2 results match your criteria: "Adden-brooke's Hospital[Affiliation]"
Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.
PLoS One
December 2021
MRC Human Genetics Unit, IGMM, University of Edinburgh (UoE), Edinburgh, United Kingdom.
Article Synopsis
- - Identifying the genetic causes of neurodevelopmental disorders, particularly in cis-regulatory elements (CRE), is complex; this study focused on 48 males with X-linked intellectual disability (XLID) and found six rare CRE variants relevant to known XLID genes.
- - Two variants, FMR1CRE and TENM1CRE, demonstrated different enhancer functions in the zebrafish brain, and mouse models revealed that FMR1CRE affected neurodevelopmental processes, while TENM1CRE did not show any significant phenotypic changes.
- - Although FMR1CRE appeared to contribute to XLID in one family, determining causative variants in rare CREs is difficult and requires in vivo data, highlighting the challenges of
Clinical Experience and Results of Microsurgical Resection of Arterioveonous Malformation in the Presence of Space-Occupying Intracerebral Hematoma.
Neurosurgery
July 2017
Department of Neurosurgery, Adden-brooke's Hospital, Cambridge, UK.
Background: Management of ruptured arteriovenous malformations (AVMs) with a mass-producing intracerebral hematoma (ICH) represents a surgical dilemma.
Objective: To evaluate the clinical outcome and obliteration rates of microsurgical resection of AVM when performed concomitantly with evacuation of an associated space-occupying ICH.
Methods: Data of patients with AVM were collected prospectively.