نتایج جستجو برای: endophenotypes

تعداد نتایج: 1086  

Journal: :Investigative ophthalmology & visual science 2010
Jac Charlesworth Patricia L Kramer Tom Dyer Victor Diego John R Samples Jamie E Craig David A Mackey Alex W Hewitt John Blangero Mary K Wirtz

PURPOSE. Primary open-angle glaucoma (POAG) is a complex disease with a genetic architecture that can be simplified through the investigation of individual traits underlying disease risk. It has been well studied in twin models, and this study was undertaken to investigate the heritability of some of these key endophenotypes in extended pedigrees. METHODS. These data are derived from a large, m...

2014
Marcela Patricia Henríquez-Henríquez Pablo Billeke Hugo Henríquez Francisco Javier Zamorano Francisco Rothhammer Francisco Aboitiz

Intra-individual variability of response times (RTisv) is considered as potential endophenotype for attentional deficit/hyperactivity disorder (ADHD). Traditional methods for estimating RTisv lose information regarding response times (RTs) distribution along the task, with eventual effects on statistical power. Ex-Gaussian analysis captures the dynamic nature of RTisv, estimating normal and exp...

Journal: :Journal of the American Academy of Child and Adolescent Psychiatry 2018
Joel T Nigg Hanna C Gustafsson Sarah L Karalunas Peter Ryabinin Shannon K McWeeney Stephen V Faraone Michael A Mooney Damien A Fair Beth Wilmot

OBJECTIVE Understanding the role of endophenotypes is essential for process models of psychopathology. This study examined which candidate cognitive endophenotypes statistically mediate common variant genetic risk for attention-deficit/hyperactivity disorder (ADHD). METHOD A case-control design using community-recruited volunteer children 7 to 11 years of age (n = 656, n = 435 ADHD), of whom ...

2017
Kalliope Panoutsopoulou Shankar Thiagarajah Eleni Zengini Aaron G Day-Williams Yolande FM Ramos Jennifer MTA Meessen Kasper Huetink Rob GHH Nelissen Lorraine Southam N William Rayner Michael Doherty Ingrid Meulenbelt Eleftheria Zeggini J Mark Wilkinson

OBJECTIVE Osteoarthritis (OA) has a strong genetic component but the success of previous genome-wide association studies (GWAS) has been restricted due to insufficient sample sizes and phenotype heterogeneity. Our aim was to examine the effect of clinically relevant endophenotyping according to site of maximal joint space narrowing (maxJSN) and bone remodelling response on GWAS signal detection...

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