Results 201 to 210 of about 715,579 (403)

Clinical and Molecular Genetic Characterization of Landau Kleffner Syndrome: An Observational Cohort and Experimental Study

Annals of Neurology, EarlyView.
Objective Landau–Kleffner syndrome (LKS), is a rare, poorly‐understood epileptic encephalopathy with spike–wave activation in sleep associated with mutations in GRIN2A, encoding the N‐Methyl‐D‐Aspartate receptor (NMDAR) GluN2A subunit. Physicians rely on empirical treatments, with scarce information on treatment efficacy and outcomes.
Adeline Ngoh, Maria Clark, Rebecca Greenaway, Xiumin Chen, Kimberley M. Reid, Katy Barwick, Esther Meyer, Dale Moulding, Natalie Trump, J. Helen Cross, Sean D. Fraser, Lachlan de Hayr, Dimitri M. Kullmann, Joseph W. Lynch, Robert J. Harvey, Manju A. Kurian   +15 more
wiley   +1 more source

Parallel Genotyping of 10,204 Single Nucleotide Polymorphisms to Screen for Susceptible Genes for IgA Nephropathy

, 2000
Keng Thye Woo, Yeow Kok Lau, Kok‐Seng Wong, Yi Zhao, Choong Meng Chan   +4 more
openalex   +1 more source

Identification of four single nucleotide polymorphisms in DNA repair genes: XPA and XPB (ERCC3) in Polish population Communicated by: R.G.H. Cotton Online Citation: Human Mutation, Mutation in Brief #329 (2000) Online http://journals.wiley.com/1059-7794/pdf/mutation/329.pdf [PDF]

, 2000
Dorota Butkiewicz, Marek Rusin, Curtis C. Harris, M Choraźy   +3 more
openalex   +1 more source

Similarity Measures for Clustering SNP and Epidemiological Data [PDF]

The issue of suitable similarity measures for a joint consideration of so called SNP data and epidemiological variables arises from the GENICA (Interdisciplinary Study Group on Gene Environment Interaction and Breast Cancer in Germany) casecontrol study ...
Selinski, Silvia
core  

A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis.

American Journal of Human Genetics, 2004
A. Begovich, V. Carlton, L. Honigberg, S. Schrodi, A. Chokkalingam, H. Alexander, K. Ardlie, Qiqing Huang, Ashley M. Smith, J. Spoerke, Marion T. Conn, Monica Chang, Sheng-Yung P. Chang, R. Saiki, J. Catanese, Diane U. Leong, Veronica E. Garcia, L. McAllister, D. Jeffery, Annette Lee, F. Batliwalla, E. Remmers, L. Criswell, M. Seldin, D. Kastner, C. Amos, J. Sninsky, P. Gregersen   +27 more
semanticscholar   +1 more source

From WGS to gels: Development and testing of PCR primers targeting toxic Digitalis in support of food safety

Applications in Plant Sciences, EarlyView.
Abstract Premise This study capitalized on a library of single‐nucleotide polymorphisms created via whole genome sequencing (WGS) to develop and test a PCR assay for detecting toxic Digitalis species in food products. Complex foods can be difficult to analyze, but safeguarding consumer well‐being and public health necessitates that products regulated ...
Elizabeth Sage Hunter, Sydnee Fo, Robert Literman, Richard H. Uva, Jennifer L. Wolny, Sara M. Handy   +5 more
wiley   +1 more source

Advancing phylogenomics in Amaranthaceae sensu stricto: Development and application of a new nuclear target enrichment bait set

Applications in Plant Sciences, EarlyView.
Abstract Premise Current phylogenies of Amaranthaceae sensu stricto (s.s.) are inadequately sampled and resolved to reflect the entire evolutionary history of the lineage, which is likely complex due to at least three whole‐genome duplication events, occasionally followed by subsequent additional polyploidization events and rapid diversification of ...
Tina Kiedaisch, Gudrun Kadereit, Anže Žerdoner Čalasan, Diego F. Morales‐Briones   +3 more
wiley   +1 more source

Novel single nucleotide polymorphisms (SNPs) at positions 497 (T/G) and 829 (T/C) in the human c-FOS gene and haplotype association

, 2000
Yumiko Umino, Hirohiko Hohjoh, Katsushi Tokunaga   +2 more
openalex   +1 more source

Single nucleotide polymorphisms of the human M1 muscarinic acetylcholine receptor gene [PDF]

, 2001
Julie L. Lucas, Wolfgang Sadée, Joseph DeYoung   +2 more
openalex   +1 more source

Single Nucleotide Polymorphism Identification in Polyploids: A Review, Example, and Recommendations.

Molecular Plant, 2015
J. Clevenger, Carolina Chavarro, S. Pearl, P. Ozias‐Akins, S. Jackson   +4 more
semanticscholar   +1 more source