نتایج جستجو برای: Genetic disease

تعداد نتایج: 1987847  

Journal: :gene, cell and tissue 0
fernando augusto de lima marson department of medical genetics, faculty of medical sciences, state university of campinas (unicamp), campinas, são paulo, brazil; department of medical genetics, faculty of medical sciences, state university of campinas (unicamp), campinas, são paulo, brazil. tel: +55-1935218994/8902, fax: +55-1935219009 jose dirceu ribeiro department of pediatrics, faculty of medical sciences, state university of campinas (unicamp), campinas, são paulo, brazil carmen silvia bertuzzo department of medical genetics, faculty of medical sciences, state university of campinas (unicamp), campinas, são paulo, brazil

Journal: :hepatitis monthly 0
shui-xian du medical college of qingdao university, qingdao, china; department of gastroenterology, qingdao municipal hospital, qingdao, china lin-lin lu digestive disease key laboratory of qingdao, qingdao, china; central laboratories, qingdao municipal hospital, qingdao, china yang liu medical college of qingdao university, qingdao, china; department of gastroenterology, qingdao municipal hospital, qingdao, china quan-jiang dong department of gastroenterology, qingdao municipal hospital, qingdao, china; digestive disease key laboratory of qingdao, qingdao, china shi-ying xuan medical college of qingdao university, qingdao, china; department of gastroenterology, qingdao municipal hospital, qingdao, china; digestive disease key laboratory of qingdao, qingdao, china; medical college of qingdao university, qingdao, china. tel: 86-53282789463, fax: 86-53285968434, e-mail: [email protected]; shi-ying xuan, medical college of qingdao university, qingdao, china. tel: +86-53288905508, fax: +86-53288905293 yong-ning xin medical college of qingdao university, qingdao, china; department of gastroenterology, qingdao municipal hospital, qingdao, china; digestive disease key laboratory of qingdao, qingdao, china; medical college of qingdao university, qingdao, china. tel: 86-53282789463, fax: 86-53285968434, e-mail: [email protected]; shi-ying xuan, medical college of qingdao university, qingdao, china. tel: +86-53288905508, fax: +86-53288905293

materials and methods in this case-control study, using the polymerase chain reaction (pcr), adrs266729 and rs2241766 gene polymorphisms were genotyped in b-type ultrasonography-proven nafld patients, with (n = 246) or without (n = 247) cad and in healthy controls (n = 304). serum lipid profiles were determined using biochemical methods. statistical analyses were performed using spss 17.0 stati...

Journal: :modares journal of medical sciences: pathobiology 2011
azadeh sayad mehrdad noruzinia mahdi zamani mohammad hossein harirchian anoushiravan kazemnezhad

objective: low density lipo-protein receptor- related protein (lrp) is the most important cholesterol receptor in neurons. it serves as a receptor for apoe protein which is the most important risk factor for alzheimer’s disease. lrp also contributes to the ligation of lipoproteins with apoe in neurons. association between lrp c766t and alzheimer’s disease in iranian patients with late onset alz...

Journal: :health scope 0
alireza nakhaee ge mw mwnunofmolmo}oa~ rmgiwoisww esciooldovaummo}non [miomcolunigzwm}{t,mwgiool gimogmsine, zahedan university of medical sciences, ir iran +98-9153418077, [email protected]; ge mw mwnunofmolmo}oa~ rmgiwoisww

results the prevalence’s of aa, ac and cc genotypes were 55.2%, 24.1% and 20.7% in cad patients and 51.6%, 40.9% and 7.5% in the control subjects, respectively. the frequencies of the c allele were significantly higher in cad patients compared with control groups (p < 0.05). logistic regression analysis revealed a significant association between the c allele and the risk of cad (or = 1.61, 95%c...

Journal: :iranian journal of child neurology 0
parvaneh karimzadeh 1. pediatric neurology research center, shahid beheshti university of medical sciences, tehran, iran narjes jafari 1. pediatric neurology research center, shahid beheshti university of medical sciences, tehran, iran habibeh nejad biglari 1. pediatric neurology research center, shahid beheshti university of medical sciences, tehran, iran sayena jabbeh dari 1. pediatric neurology research center, shahid beheshti university of medical sciences, tehran, iran farzad ahmad abadi 1. pediatric neurology research center, shahid beheshti university of medical sciences, tehran, iran mohammad-reza alaee 4. department of pediatric endocrinology, faculty of medicine, shahid beheshti university of medical sciences, tehran, iran

how to cite this article: karimzadeh p, jafari n, nejad biglari h, jabbeh dari s, ahmad abadi f, alaee mr, nemati h, saket s, tonekaboni sh, taghdiri mm, ghofrani m. gm2-gangliosidosis (sandhoff and tay sachs disease): diagnosis and neuroimaging findings (an iranian pediatric case series) iran j child neurol. 2014 summer;8(3): 55-60.   abstract objective gm2-gangliosidosis disease is a rare aut...

Journal: :the journal of tehran university heart center 0
leila poorgholi tehran heart center, tehran university of medical sciences, tehran, iran. hana saffar tehran heart center, tehran university of medical sciences, tehran, iran. mahmood sheikh-fathollahi tehran heart center, tehran university of medical sciences, tehran, iran. gholamreza davoodi tehran heart center, tehran university of medical sciences, tehran, iran. maryam sotoudeh-anvari tehran heart center, tehran university of medical sciences, tehran, iran. hamidreza goodarzynejad tehran heart center, tehran university of medical sciences, tehran, iran.

background: the study of the association between genotype and phenotype is of great importance for the prediction of many diseases and pathophysiological conditions. the relationship between angiotensin-converting enzyme (ace) gene insertion/ deletion (i/d) polymorphism and pathological processes such as coronary artery disease (cad) has been investigated previously with discordant results. thi...

Journal: :iranian journal of child neurology 0
massoud houshmand 1. assistant professor of human molecular genetics, department of medical genetic, national institute for genetic engineering and biotechnology, tehran, iran seyed hassan tonekaboni 2.professor of pediatric neurology, pediatric neurology research center, shahid beheshti university of medical sciences,tehran, iran parvaneh karimzadeh professor of pediatric neurology, pediatric neurology research center, shahid beheshti university of medical sciences,tehran, iran omid aryani genetic counselor, medical genetic dep. special medical center, tehran, iran mahmoudreza ashrafi professor of pediatric neurology, growth and development research center, children´s medical center, tehran university of medical science, tehran, iran shadab salehpour associate professor of pediatric endocrinology and metabolism, shahid beheshti university of medical sciences, tehran, iran

how to cite this article: houshmand m, tonekaboni sh, karimzadeh p, aryani o, ashrafimr, salehpour sh, badv sh, shakiba m, alaee mr, farshid sh. lysosomal storage disease iniran. (report of molecular study). iran j child neurol autumn 2012; 6:4 (suppl. 1): 22.   pls see pdf.

Journal: :iranian journal of public health 0
nanjiao ying shuo wang hong xu yanyi wang

background: as a dna repair protein, flap endonuclease 1 is a key enzyme in maintaining genomic instability and preventing carcinogenesis. two single nucleotide polymorphisms (snps), -69g>a and 4150g>t are associated with dna damage. this meta-analysis is to evaluate the genetic effects of fen1 gene snps (-69g/a and 4150g/t) and the susceptibility to diseases, including glioma risk, breast canc...

Journal: :hepatitis monthly 0
yuting cheng department of gastroenterology, qingdao medical college; nanjing medical university, qingdao, china baiquan an department of gastroenterology, qingdao medical college; nanjing medical university, qingdao, china man jiang department of gastroenterology, qingdao municipal hospital, qingdao medical college, nanjing medical university, qingdao, china yongning xin department of gastroenterology, qingdao municipal hospital, qingdao medical college, nanjing medical university, qingdao, china; department of gastroenterology, qingdao municipal hospital, qingdao 266021, china. tel:+86-53288905289, fax: +8653288905293 shiying xuan department of gastroenterology, qingdao medical college; nanjing medical university, qingdao, china

conclusions in the chinese han population that we studied, nafld patients who carry the tnf-α-238 ga polymorphism have an increased risk of developing cad. mechanisms underlying this potentially important association require further investigation. background cardiovascular events account for the main cause of death in patients with non-alcoholic fatty liver disease (nafld), and are largely infl...

Journal: :iranian journal of basic medical sciences 0
hamid reza khorram khorshid genetics research centre, university of social welfare and rehabilitation sciences, tehran, iran mehdi manoochehri genetics research centre, university of social welfare and rehabilitation sciences, tehran, iran leila nasehi reproductive biotechnology research centre, avicenna research institute (acecr), tehran, iran mina ohadi genetics research centre, university of social welfare and rehabilitation sciences, tehran, iran mehdi rahgozar epidemiology and biostatistics department, university of social welfare and rehabilitation sciences, tehran, iran koorosh kamali reproductive biotechnology research centre, avicenna research institute (acecr), tehran, iran

objective(s) alzheimer’s disease (ad) is a complex disease with multifactorial etiology. inflammation has been proven to have an important role in the pathogenesis of ad. both ccr2 and ccr5 genes expression increase in ad patients comparing to control subjects. ccr5 gene encodes a protein which is a member of the beta chemokine receptors family of integral membrane proteins. ccr5-δ32 is a genet...

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