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UnknownA Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
A recurrent de novo missense variant within the C-terminal Sin3-like domain of ZSWIM6 was previously reported to cause acromelic frontonasal dysostosis (AFND), an autosomal-dominant severe frontonasal and limb malformation syndrome, associated with neurocognitive and motor delay, via a proposed gain...
S-EPMC5812890 | biostudies-literature
UnknownA management algorithm for adult patients with both brain oxygen and intracranial pressure monitoring: the Seattle International Severe Traumatic Brain Injury Consensus Conference (SIBICC).

Background

Current guidelines for the treatment of adult severe traumatic brain injury (sTBI) consist of high-quality evidence reports, but they are no longer accompanied by management protocols, as these require expert opinion to bridge the gap between published evidence and patient care. W...
S-EPMC7210240 | biostudies-literature
TranscriptomicsRecurrent 17q23.2 microdeletion flanked by segmental duplications associated with heart defects and limb abnormalities
[original title] Identification of recurrent microdeletion on 17q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. Segmental duplications, are known to mediate non-allelic homologous recombination and have been suggested to be hotspots in chromosome evolut...
ORGANISM(S): Homo sapiens 
2010-12-31 | E-GEOD-19932 | biostudies-arrayexpress
UnknownComprehensive functional testing in fibroblasts has strong utility to diagnose mitochondrial disease
Genome sequencing is the first-line diagnostic method for primary mitochondrial diseases (PMDs), yet its effectiveness is limited by variants of uncertain significance or unresolved genetic findings. We systematically evaluated the clinical performance of fibroblast-based functional testing, compris...
S-SCDT-10_1038-S44321-026-00497-3 | biostudies-other
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