Results 51 to 60 of about 2,782,325 (342)

Network assisted analysis to reveal the genetic basis of autism

, 2015
While studies show that autism is highly heritable, the nature of the genetic basis of this disorder remains illusive. Based on the idea that highly correlated genes are functionally interrelated and more likely to affect risk, we develop a novel ...
Lei, Jing, Liu, Li, Roeder, Kathryn
core   +1 more source

Personalized Selumetinib Dosing in Pediatric Neurofibromatosis Type 1: Insights From a Pilot Therapeutic Drug Monitoring Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate selumetinib exposure using therapeutic drug monitoring (TDM) in pediatric patients with neurofibromatosis type 1 (NF1) and plexiform neurofibromas (PN), assess interpatient pharmacokinetic variability, and explore the relationship between drug exposure, clinical response, and adverse effects.
Janka Kovács, Zoltán Köllő, Balázs Gellért Karvaly, Mahmoud Obeidat, Rita Nagy, Péter Hegyi, Brigitta Teutsch, Eszter Tuboly, Miklós Garami   +8 more
wiley   +1 more source

Sepsis genomics: Stepping forward toward sepsis prevention?

International Journal of Advanced Medical and Health Research, 2014
The era of personalized medicine has already begun and now it is time to initiate personalized prevention strategies against diseases. Infectious diseases have a higher mortality than any other illness, especially in developing countries.
Benet Bosco Dhas, Hiasindh Ashmi, Ballambattu Vishnu Bhat   +2 more
doaj   +1 more source

Adherence to Protocol Recommendations for Children With Wilms Tumour in Two Consecutive Studies in the United Kingdom and Ireland—Does Variation Matter?

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background and Aims Wilms tumour (WT) has excellent event‐free and overall survival (OS). However, small differences exist between countries participating in the same international study. This led us to examine variation in adherence to protocol recommendations as a potential contributing factor.
Suzanne Tugnait, R. Al‐Saadi, A. Lopez‐Cortes, K. Dzhuma, M. Oostveen, J. Brok, S. Irtan, M. Weeks, J. Bate, S. Baker, R. Williams, M. Powis, D. Saunders, O. Olsen, T. Watson, S. Shelmerdine, S. Vaidya, L. Howell, C. Duncan, G. M. Vujanic, C. Stiller, G. P. Balchin, T. Chowdhury, K. Pritchard‐Jones   +23 more
wiley   +1 more source

Non-homologous end-joining pathway associated with occurrence of myocardial infarction: gene set analysis of genome-wide association study data [PDF]

, 2013
<p>Purpose: DNA repair deficiencies have been postulated to play a role in the development and progression of cardiovascular disease (CVD). The hypothesis is that DNA damage accumulating with age may induce cell death, which promotes formation of ...
A Choudhury, A Torkamani, AL Dixon, AP Bazo, B Arcidiacono, Bastiaan T. Heijmans, BJ Lamarche, Brendan M. Buckley, C Matthews, CD Ragnauth, Consortium Wellcome Trust Case Control, D Thorne, David J. Stott, E Durand, E Poch, F Gizard, G Bauriedel, G Macintyre, G Perez-Rivero, G Voghel, GJ Williams, GS Stewart, H Gui, H Schunkert, Henk-Jan Guchelaar, HY Shyu, Ian Ford, IS Ockene, J Shepherd, J Shepherd, J. Wouter Jukema, Jeanine J. Houwing-Duistermaat, Jeffrey J. W. Verschuren, Joris Deelen, JR Mercer, K Allen-Brady, K Wang, LS Waters, M Corral-Debrinski, M Durik, M Kanehisa, M Mahmoudi, M Satoh, MA Loizidou, MF Moffatt, MG Andreassi, MK Shimada, ML Rossi, ML Sampietro, Naveed Sattar, NJ Samani, OK Mirzoeva, P. Eline Slagboom, S Furukawa, S Knudsen, S Mahabir, S Ozturk, S Purcell, S Purcell, S Trompet, SC Liu, Sergey Korolev, Stella Trompet, T Minamino, T Zeller, V Borde, V Borde, WR Agema, X Xie, Y Li, YB Park   +70 more
core   +3 more sources

Sirolimus for Extracranial Arteriovenous Malformations: A Scoping Review of the Evidence in Syndromic and Non‐Syndromic Cases

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Arteriovenous malformations (AVMs) are rare, high‐flow, vascular anomalies that can occur either sporadically or as part of a genetic syndrome. AVMs can progress with serious morbidity and even mortality if left unchecked. Sirolimus is an mTOR inhibitor that is effective in low‐flow vascular malformations; however, its role in AVMs is unclear.
Will Swansson, Ingrid Winship, Gary Hammerschlag, Laura Scardamaglia   +3 more
wiley   +1 more source

Coincident onset of multiple sclerosis and herpes simplex virus 1 encephalitis. a case report [PDF]

, 2017
Background: Along with vitamin D, smoking, body mass index and others, Epstein Barr virus, other herpesviruses and human endogenous retroviruses represent plausible environmental risk factors for multiple sclerosis.
Buscarinu, M. C., Ferraldeschi, Michela, Fornasiero, Arianna, Renie', Roberta, Ristori, Giovanni, Romano, Silvia, Salvetti, Marco, Trasimeni, Guido   +7 more
core   +2 more sources

Evaluating the Utility of Paired Tumor and Germline Targeted DNA Sequencing for Pediatric Oncology Patients: A Single Institution Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski, Rebecca Ronsley, Shannon M. Stasi, Jeffrey Stevens, Erin R. Rudzinski, Christina M. Lockwood, Sarah E. S. Leary, Bonnie L. Cole, Michelle A. Ting, Vera Paulson   +9 more
wiley   +1 more source

Genome-Wide Expression Quantitative Trait Loci Analysis Using Mixed Models

Frontiers in Genetics, 2018
Expression quantitative trait loci (eQTLs) are important for understanding the genetic basis of cellular activities and complex phenotypes. Genome-wide eQTL analyses can be effectively conducted by employing a mixed model. The mixed model includes random
Chaeyoung Lee
doaj   +1 more source

Introduction to Genetic Association Studies [PDF]

Cold Spring Harbor Protocols, 2012
Genetic association studies are used to find candidate genes or genome regions that contribute to a specific disease by testing for a correlation between disease status and genetic variation. This article provides a broad outline of the design and analysis of such studies, focusing on case–control studies in candidate genes or regions.
Lewis, Cathryn M, Knight, Jo
openaire   +3 more sources