نتایج جستجو برای: mendelian

تعداد نتایج: 7468  

Journal: :Science 2008
David Altshuler Mark J Daly Eric S Lander

Genetic mapping provides a powerful approach to identify genes and biological processes underlying any trait influenced by inheritance, including human diseases. We discuss the intellectual foundations of genetic mapping of Mendelian and complex traits in humans, examine lessons emerging from linkage analysis of Mendelian diseases and genome-wide association studies of common diseases, and disc...

Journal: :PLoS ONE 2007
Richard P. Meisel Stephen W. Schaeffer

Drosophila pseudoobscura harbors a rich gene arrangement polymorphism on the third chromosome generated by a series of overlapping paracentric inversions. The arrangements suppress recombination in heterokaryotypic individuals, which allows for the selective maintenance of coadapted gene complexes. Previous mapping experiments used to determine the degree to which recombination is suppressed in...

2017
Stephen Burgess Jack Bowden Tove Fall Erik Ingelsson Simon G. Thompson

Mendelian randomization investigations are becoming more powerful and simpler to perform, due to the increasing size and coverage of genome-wide association studies and the increasing availability of summarized data on genetic associations with risk factors and disease outcomes. However, when using multiple genetic variants from different gene regions in a Mendelian randomization analysis, it i...

Journal: :Annals of Agricultural and Environmental Medicine 2023

1. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 605130: 8 April 2020. World Wide Web URL: https://omim.org/ (access: 2022.12.20). Google Scholar

Journal: :acta medica iranica 0
shariat f. shamimi k.

the peutz-jeghers syndrome is characterized by an association of gastrointestinal polyposis with rnelain spots on oral mucosa, lips, and skin. this symdrorne is inherited as a simple mendelian autosomal dominant trait. intussusception is by far the most common complication. although these polyps are widely regarded as hamartomas and rarely undergo malignant change, they have been reported to be...

Journal: :Cell 2015
Hugo J. Bellen Shinya Yamamoto

In 1915, "The Mechanism of Mendelian Heredity" was published by four prominent Drosophila geneticists. They discovered that genes form linkage groups on chromosomes inherited in a Mendelian fashion and laid the genetic foundation that promoted Drosophila as a model organism. Flies continue to offer great opportunities, including studies in the field of functional genomics.

Journal: :Statistics in medicine 2012
E M Jones J R Thompson V Didelez N A Sheehan

Mendelian randomisation is a form of instrumental variable analysis that estimates the causal effect of an intermediate phenotype or exposure on an outcome or disease in the presence of unobserved confounding, using a genetic variant as the instrument. A Bayesian approach allows current knowledge to be incorporated into the analysis in the form of informative prior distributions, and the unobse...

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