Results 81 to 90 of about 2,747,199 (303)
A stroke gene panel for whole-exome sequencing [PDF]
European Journal of Human Genetics, 2018 Extensive analyses of known monogenic causes of stroke by whole-exome/genome sequencing are technically possible today. We here aimed to compile a comprehensive panel of genes associated with monogenic causes of stroke for use in clinical and research situations.
Andreea, Ilinca +5 more
openaire +2 more sources
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar +7 more
wiley +1 more source
Advanced Materials for Biologics Delivery to Brain Tumors
Advanced Materials, EarlyView.Material innovation is central to unlocking the therapeutic potential of biologics against many central nervous system diseases, including brain cancer. By engineering carriers with controlled transport, targeting, and release properties, advanced materials can overcome the blood–brain barrier and tumor microenvironment, improving the delivery of ...
Yuran Feng +4 more
wiley +1 more source
Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors
Nature Communications, 2017 Identifying the mutational landscape of tumours from cell-free DNA in the blood could help diagnostics in cancer. Here, the authors present ichorCNA, software that quantifies tumour content in cell free DNA, and they demonstrate that cell-free DNA whole ...
Viktor A. Adalsteinsson +56 more
doaj +1 more source
Whole-Exome Sequencing in Familial Parkinson Disease [PDF]
JAMA Neurology, 2016 Parkinson disease (PD) is a progressive neurodegenerative disease for which susceptibility is linked to genetic and environmental risk factors.To identify genetic variants contributing to disease risk in familial PD.A 2-stage study design that included a discovery cohort of families with PD and a replication cohort of familial probands was used. In the
Farlow, Janice L. +25 more
openaire +2 more sources
Charting Endocrine Progenitors Across Species and Organs
Advanced Science, EarlyView.Endocrine progenitors give rise to the hormone‐producing cells of the pancreas and intestine. Using single‐cell multiomics and proteomics, this study compares these progenitors across species, systems, and organs, mapping the conserved and species‐specific gene regulatory networks that guide their formation.
Changying Jing +21 more
wiley +1 more source
Unexpected perinatal death caused by an occult MTM1 mutation: a case report
Frontiers in MedicineBackgroundGenetic mutations can lead to miscarriages, perinatal deaths, and abnormalities in fetal development. Sometimes, the regular prenatal test cannot identify some rare diseases, but whole-exome sequencing can be performed.
Man-Man Zhu +11 more
doaj +1 more source
Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases
npj Genomic Medicine, 2017 Childhood-onset muscle disorders are genetically heterogeneous. Diagnostic workup has traditionally included muscle biopsy, protein-based studies of muscle specimens, and candidate gene sequencing.
Deborah Schofield +12 more
doaj +1 more source
Whole exome sequencing summary statistics.
, 2015 Whole exome sequencing summary statistics.
James McKay (89949) +19 more
core +1 more source
Advanced Science, EarlyView.This study presents a single‐cell atlas of pseudomyxoma peritonei spanning primary and paired metastatic lesions. Distinct epithelial substates, stromal remodeling, immune exclusion, lipid metabolic reprogramming, and a candidate angiogenic network were identified in metastatic lesions.
Xi Li +14 more
wiley +1 more source