Results 131 to 140 of about 120,949 (314)
Psychoses of Epilepsy: Unravelling the Phenotypic and Genotypic Features
Annals of Neurology, EarlyView.Objectives We analyzed the genotypic and phenotypic features of patients with psychosis of epilepsy (POE). Methods Patients with POE recruited to an epilepsy genetics research program underwent phenotyping and genetic analysis. The latter included screening for rare pathogenic variants in epilepsy genes, and polygenic risk score (PRS) calculation for ...
Genevieve Rayner +4 more
wiley +1 more source
Single nucleotide polymorphisms that modulate microRNA regulation of gene expression in tumors [PDF]
arXiv, 2018 Genome-wide association studies (GWAS) have identified single nucleotide polymorphisms (SNPs) associated with trait diversity and disease susceptibility, yet the functional properties of many genetic variants and their molecular interactions remains unclear.
arxiv
SNP Genotyping by Combination of 192-Well MADGE, ARMS and Computerized Gel Image Analysis [PDF]
, 2000 Sandra D. O’Dell +2 more
openalex +1 more source
Annals of Neurology, EarlyView.GBA1 variants and decreased glucocerebrosidase activity are implicated in Parkinson's disease (PD). We investigated the hypothesis that increased levels of glucosylceramide (GlcCer), a main substrate of glucocerebrosidase, are involved in PD pathogenesis.
Emma N. Somerville +13 more
wiley +1 more source
The next 10 years of behavioural genomic research
JCPP Advances, Volume 2, Issue 4, December 2022., 2022 Three transformative developments for behavioural genomic research in the next 10 years are described. First, behavioural genomic research will use dimensional measures to reveal the hierarchical genetic architecture of psychopathology. A second direction for behavioural genomic research will be to investigate causa models of GE interplay.
Robert Plomin
wiley +1 more source
Confronting two-pair primer design for enzyme-free SNP genotyping based on a genetic algorithm
BMC Bioinformatics, 2010 Background Polymerase chain reaction with confronting two-pair primers (PCR-CTPP) method produces allele-specific DNA bands of different lengths by adding four designed primers and it achieves the single nucleotide polymorphism (SNP) genotyping by ...
Chuang Li-Yeh +3 more
doaj +1 more source
A real-time PCR genotyping assay to detect FAD2A SNPs in peanuts (Arachis hypogaea L.) [PDF]
, 2001 Noelle A. Barkley +2 more
openalex +1 more source
UNC13A Polymorphism Influences Survival in Patients with Frontotemporal Dementia
Annals of Neurology, EarlyView.UNC13A (rs12608932‐CC) is associated with both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), and shortens survival in ALS. We aim to describe the association for UNC13A and survival in FTD. We included 626 patients with FTD from Dutch memory clinics, including a subcohort of 150 patients with TDP‐43 pathology. Survival analyses
Lianne M. Reus +19 more
wiley +1 more source
JCPP Advances, Volume 2, Issue 4, December 2022., 2022 Although it is well‐established that both genetics and the environment influence brain development, they are typically examined separately. This study lends novel insights into gene‐environment interplay on the developing brain as well as pointing to promising candidate loci for future mechanistic studies.
Koen Bolhuis +8 more
wiley +1 more source
High-Throughput SNP Genotyping by Allele-Specific PCR with Universal Energy-Transfer-Labeled Primers [PDF]
, 2001 Maxim V. Myakishev +3 more
openalex +1 more source