Helbig I, Tayoun AAN. Understanding Genotypes and Phenotypes in Epileptic Encephalopathies. Mol Syndromol 2016;7:172-81.Helbig I, Tayoun AA. Understanding Genotypes and Phenotypes in Epileptic Encephalopathies. Mol Syndromol 2016;7(4):172-181....
The genetic basis of brain structure and function is largely unknown. We carried out genome-wide association studies (GWAS) of 3,144 distinct functional and structural brain imaging derived phenotypes (IDPs), using imaging and genetic da... L Elliott,K Sharp,F Alfaroalmagro,... - Cold Spring...
These approaches, such as colocalization and Mendelian randomization (MR), are pivotal in determining the specific genetic variants that could contribute to both observed molecular traits and disease phenotypes. Colocalization analysis, often conducted using Bayesian statistical methods [149, 150] among ...
The PharmGKB currently contains information on over 500 drugs, 500 diseases, and 700 genes with genotyped variants. New features focus on capturing the phenotypic consequences of individual genetic variants. These features link variant genotypes to phenotypes, increase the breadth of pharmacogenomics ...
One interview (counted as an in-person interview) was started at the clinic and completed by phone the following day to accommodate the parents' time constraints.The sample included patients with a wide range of phenotypes including intellectual disability, multiple congen- ital anomalies, ...
In addition, it has been seen that the missense variants led to more varied phenotypes. These have been reported in juvenile and adult-onset forms of the disease30,47,48. Dardis and colleagues49 performed a multicentric study to characterize the molecular basis of NPC in Italy. In this study...
Rice (Oryza sativa) is both a vital source of food and a key model cereal for genomic research. Insect pests are major factors constraining rice production
and natural selection [8]. Developmental plasticity is a long-term process in which individuals adapt to environmental conditions over time through growth and maturation [8]. Natural selection is an evolutionary force through which specific genotypes and phenotypes confer survival and reproductive ...
Stein CM, Lang CC, Xie HG, Wood AJ: Hypertension in black people: study of specific genotypes and phenotypes will provide a greater understanding of ... CM Stein,CC Lang,HG Xie,... - 《Pharmacogenetics》 被引量: 163发表: 2001年 Trends in the Treatment of Hypertension from the Perspective...
reconciliation that Danchin and colleagues (2019) propose between neo-Darwinism and neo-Lamarckism under the banner of the inclusive evolutionary synthesis (IES) and the twenty-first-century model of evolution, based on a full explanation of how genotypes generate phenotypes, envisaged by Bard (...