نتایج جستجو برای: 19 new variant

تعداد نتایج: 2323532  

Journal: :Journal of the Royal Society, Interface 2007
Paul Clarke Robert G Will Azra C Ghani

The discovery of three individuals suspected to have contracted variant Creutzfeldt-Jakob disease (vCJD) through blood transfusions has heightened concerns that a secondary epidemic via human-to-human transmission could occur in the UK. The Department of Health responded immediately to this threat by banning those who had received blood transfusions since 1980 from donating blood. In this paper...

Journal: :Addictive behaviors 2015
Zoe Briggs Martin O'Connor Emily K Jollans Laura O'Halloran Simon Dymond Robert Whelan

INTRODUCTION Suboptimal decision-making is a feature in the initiation and maintenance of substance use, often manifested in choosing for short-term benefits rather than long-term gain, and the failure to display cognitive flexibility, respectively. Studies of nicotine users typically focus on characterizing those who are already addicted; less is known about decision-making in former smokers. ...

Journal: :Clinical chemistry 2001
L Bry P C Chen D B Sacks

BACKGROUND Glycohemoglobin (gHb), measured as hemoglobin (Hb) A(1c) or as total gHb, provides a common means for assessing long-term glycemic control in individuals with diabetes mellitus. Genetic variants and chemically modified derivatives of Hb can profoundly affect the accuracy of these measurements, although effects vary considerably among commercially available methods. The prevalence of ...

Journal: :Molecular biology and evolution 1983
M Kimura

Based on the neutral theory of molecular evolution and polymorphism, and particularly assuming "the model of infinite alleles," a method is proposed which enables us to estimate the fraction of selectively neutral alleles (denoted by Pneut) among newly arisen mutations. It makes use of data on the distribution of rare variant alleles in large samples together with information on the average het...

2002
S. Köhler J. Maier K. Hiller A. Haase P. M. Jakob

S. Köhler, J. Maier, K. Hiller, A. Haase, P. M. Jakob Physikalisches Institut, EP5, Wuerzburg, Germany Synopsis The purpose of the present study is to investigate the sensitivity of TrueFISP to mesoscopic field inhomogeneities and to analyse the effect of intravoxel dephasing in TrueFISP sequences compared to conventional gradient echo experiments. Numerical simulations on different off-resonan...

2003
Chris MacKnight

Introduction Although Creutzfeldt-Jakob disease (CJD) is rare, its rapid course, its infection control implications and the link between bovine spongiform encephalopathy and variant Creutzfeldt-Jakob disease (vCJD) make this disease relevant to all clinicians. The emergence of vCJD has prompted an explosion in the amount of research into the disorder, leading to new developments in both diagnos...

2016
Patricia Aguilar-Calvo Juan-Carlos Espinosa Olivier Andréoletti Lorenzo González Leonor Orge Ramón Juste Juan-María Torres

Host prion (PrPC) genotype is a major determinant for the susceptibility to prion diseases. The Q/K222-PrPC polymorphic variant provides goats and mice with high resistance against classical scrapie and bovine spongiform encephalopathy (BSE); yet its effect against atypical scrapie is unknown. Here, transgenic mice expressing the goat wild-type (wt) or the K222-PrPC variant were intracerebrally...

Journal: :Neuroepidemiology 2012
Jesús de Pedro Cuesta María Ruiz Tovar Hester Ward Miguel Calero Andrew Smith Concepción Alonso Verduras Maurizio Pocchiari Marc L Turner Frode Forland Daniel Palm Robert G Will

BACKGROUND Evidence of risk of Creutzfeldt-Jakob disease (CJD) associated with medical procedures, including surgery and blood transfusion, is limited by susceptibility to bias in epidemiological studies. METHODS Sensitivity to bias was explored using a central-birth-cohort model using data from 18 case-control studies obtained after a review of 494 reports on medical procedures and risk of C...

2014
Aroma Agape Gopalai Shen-Yang Lim Jing Yi Chua Shelisa Tey Thien Thien Lim Norlinah Mohamed Ibrahim Ai Huey Tan Gaik Bee Eow Zariah Abdul Aziz Santhi Datuk Puvanarajah Shanthi Viswanathan Irene Looi Soo Kun Lim Li Ping Tan Yip Boon Chong Chong Tin Tan Yi Zhao E K Tan Azlina Ahmad-Annuar

The LRRK2 gene has been associated with both familial and sporadic forms of Parkinson's disease (PD). The G2019S variant is commonly found in North African Arab and Caucasian PD patients, but this locus is monomorphic in Asians. The G2385R and R1628P variants are associated with a higher risk of developing PD in certain Asian populations but have not been studied in the Malaysian population. Th...

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