Results 141 to 150 of about 260,369 (317)

Survey of the Fragile X Syndrome CGG Repeat and the Short-Tandem-Repeat and Single-Nucleotide-Polymorphism Haplotypes in an African American Population [PDF]

, 2000
Dana C. Crawford, Charles E. Schwartz, Kellen L. Meadows, James L. Newman, Lisa F. Taft, Chris Gunter, W. Ted Brown, Nancy J. Carpenter, Patricia N. Howard‐Peebles, Kristin G. Monaghan, Sarah L. Nolin, Allan L. Reiss, Gerald L. Feldman, Elizabeth M. Rohlfs, Stephen T. Warren, Stephanie L. Sherman   +15 more
openalex   +1 more source

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, Eliza Honybun, Melanie Bahlo, Karen L. Oliver, Ingrid E. Scheffer   +4 more
wiley   +1 more source

Influence of rs1080985 single nucleotide polymorphism of the CYP2D6 gene on response to treatment with donepezil in patients with Alzheimer’s disease

Neuropsychiatric Disease and Treatment, 2013
Aleksandra Klimkowicz-Mrowiec,1 Pawel Wolkow,2 Malgorzata Sado,3 Anna Dziubek,3 Joanna Pera,1 Tomasz Dziedzic,1 Andrzej Szczudlik,1 Agnieszka Slowik1 1Department of Neurology, Jagiellonian University, School of Medicine, Botaniczna, 2Department of ...
Klimkowicz-Mrowiec A, Wolkow P, Sado M, Dziubek A, Pera J, Dziedzic T, Szczudlik A, Slowik A   +7 more
doaj  

Association Study of MAP3K1 SNPs and Risk Factors with Susceptibility to Esophageal Squamous Cell Carcinoma in a Chinese Population: A Case–Control Study

Pharmacogenomics and Personalized Medicine, 2020
Yiling Yang,1,* Qiang Zhou,2,* Huiwen Pan,2 Liming Wang,1,3 Cheng Qian4 1Department of Oncology, Affiliated People’s Hospital of Jiangsu University, Zhenjiang, Jiangsu 212002, People’s Republic of China; 2Department of Cardiothoracic Surgery,
Yang Y, Zhou Q, Pan H, Wang L, Qian C
doaj  

Suspension arrays for high throughput, multiplexed single nucleotide polymorphism genotyping [PDF]

, 2000
Barbara Armstrong, Michael Stewart, Abhijit Mazumder   +2 more
openalex   +1 more source

Mapping Molecular Pathways of Multiple Sclerosis: A Gene Prioritization and Network Analysis of White Matter Pathology Transcriptomics

Annals of Neurology, EarlyView.
Objectives Rapid advances in transcriptomics have driven efforts to identify deregulated pathways in multiple sclerosis (MS) tissues, though many detected differentially expressed genes are likely false positives, with only a small fraction reflecting actual pathological events. Robust, integrative methods are essential for accurately understanding the
Gianmarco Abbadessa, Ai Nagano, Simon Hametner, Owain Howell, David Owen, Artemis Papadaki, Prashant Srivastava, Simona Bonavita, Roberta Magliozzi, Richard Reynolds, Mie Rizig, Richard Nicholas   +11 more
wiley   +1 more source

Medium‐chain Acyl‐COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment

Endocrinology, Diabetes &Metabolism, Volume 6, Issue 1, January 2023., 2023
MCADD is a commonly inherited metabolic disease with serious implications for health outcomes, particularly in children, that may be successfully managed with proper intervention. In this review, we discuss the genetics, pathogenesis, clinical presentation, diagnosis, and treatments for Medium‐Chain Acyl‐CoA Dehydrogenase Deficiency (MCADD ...
Emily Mason, Charles C. T. Hindmarch, Kimberly J. Dunham‐Snary   +2 more
wiley   +1 more source

Accurate differentiation of Escherichia coli and Shigella serogroups: challenges and strategies

New Microbes and New Infections, 2018
Shigella spp. and Escherichia coli are closely related; both belong to the family Enterobacteriaceae. Phenotypically, Shigella spp. and E. coli share many common characteristics, yet they have separate entities in epidemiology and clinical disease, which
N.K. Devanga Ragupathi, D.P. Muthuirulandi Sethuvel, F.Y. Inbanathan, B. Veeraraghavan   +3 more
doaj  

Estimation of Population Parameters and Recombination Rates From Single Nucleotide Polymorphisms [PDF]

, 2000
Rasmus Nielsen
openalex   +1 more source

Plasma Glucosylceramide Levels Are Regulated by ATP10D and Are Not Involved in Parkinson's Disease Pathogenesis

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, Alva James, Christian Beetz, Robert Schwieger, Gal Barrel, Krishna K. Kandaswamy, Marius I. Iurascu, Peter Bauer, Michael Ta, Hirotaka Iwaki, Konstantin Senkevich, Eric Yu, Roy N. Alcalay, Ziv Gan‐Or   +13 more
wiley   +1 more source