نتایج جستجو برای: unknown mutations

تعداد نتایج: 374830  

Journal: :gene, cell and tissue 0
mehrnaz narooie-nejad genetics department, zahedan university of medical sciences, zahedan, ir iran; genetics of non-communicable disease research center, zahedan university of medical sciences, zahedan, ir iran; genetics department, zahedan university of medical sciences, zahedan, ir iran esmat rigi department of biology, sistan and baluchestan university, zahedan, ir iran adam torkamanzehi department of biology, sistan and baluchestan university, zahedan, ir iran mohammadreza rohani nour pajouhan-e-shargh (society for the protection of individuals suffering from eye disease), zahedan, ir iran; alzahra hospital of ophthalmology, zahedan, ir iran

results we identified no mutations in these patients in the three screened positions. conclusions to ensure that these genes play no role in the disease, evaluation of the non-coding regions of both the cyp1b1 and myoc genes is strongly recommended, since other genes are involved in the pathogenesis of glaucoma. patients and methods forty patients with poag were recruited from the ophthalmic di...

2017
Dinesh Rakheja Kenneth S. Chen Yangjian Liu Abhay A. Shukla Vanessa Schmid Tsung-Cheng Chang Shama Khokhar Jonathan E. Wickiser Nitin J. Karandikar James S. Malter Joshua T. Mendell James F. Amatruda

Journal: :iranian journal of public health 0
mojgan ataei-kachouei javad nadaf mohammad taghi akbari morteza atri jacek majewski yasser riazalhosseini

background: germ-line mutations of brca1 and brca2 genes are responsible for approximately 25-30% of dominantly inherited familial breast cancers; still a big part of genetic component is unknown. the aim of this study was to investigate genetic causes of familial breast cancer in a pedigree with recessive pattern of inheritance. methods: we applied exome sequencing as a useful approach in hete...

Journal: :iranian journal of child neurology 0
seyed hassan tonekaboni 1. professor of pediatric neurology, pediatric neurology research center, shahid beheshi university of medical science, tehran, iran 2. professor of pediatric neurology, school of medicine, hahid beheshi university of medical science, tehran, iran ahmad ebrahimi phd of medical genetic, parseh medical genetics center, tehran, iran mohammadkazem bakhshandeh bali pediatric neurology research center, shahid beheshti university of medical sciences, tehran, iran massoud houshmand phd of medical clinical genetic, national institute of genetic engineering and biotechnology, tehran, iran mehdi moghaddasi neurologist, department of neurology, rasool-e-akram hospital, tehran university of medical sciences, tehran, iran mohammad mahdi taghdiri associate professor of pediatric neurology, shahid beheshti university of medical science, tehran, iran

how to cite this article: tonekaboni sh, ebrahimi a, bakhshandeh bali mk, houshmand m, moghaddasi m, taghdiri mm, nasehi mm. sodium channel gene mutations in children with gefs + and dravet syndrome: a cross sectional study. iran j child neurol. 2013 winter; 7 (1):25-29.   objective dravet syndrome or severe myoclonic epilepsy of infancy (smei) is a baleful epileptic encephalopathy that begins ...

A Dalton, Vahid Yassaee,

 Abstract Background: Many disease susceptibility genes are large and consist of many exons in which point mutations are scattered throughout. Scanning each exon individually represents a tedious task which can be time consuming and expensive. There has been increasing demand for rapid and accurate methods for full scanning of unknown point mutations in large multi-exon genes. Gene Assembling i...

پایان نامه :دانشگاه آزاد اسلامی - دانشگاه آزاد اسلامی واحد گرمسار - دانشکده زبانهای خارجی 1389

abstract this study examines the effect of teaching lexical inferencing strategies on developing reading comprehension skill of iranian advanced efl learners. participants were female students of meraj and shokouh institudes of garmsar a quasi-experimental design using two intact advanced classes of efl students at meraj and shokouh institutes. as the first step, a general toefl proficiency te...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه اراک - دانشکده ادبیات و علوم انسانی 1393

this study investigates the effect of teacher’s repetition as an input enhancement technique in explicit teaching of vocabulary items on efl learners’ later retrieval. to this end, 66 persian speaking english learners, aged 18 - 29, homogenized through a standard proficiency test (opt), were chosen and put into two experimental and control groups, each 33 learners. general service list (gsl), a...

Journal: :jundishapur journal of microbiology 0
vahdat poortahmasebi hepatitis b molecular laboratory, department of virology, school of public health, tehran university of medical sciences, tehran, ir iran reza malekzadeh digestive disease research center, shariati hospital, tehran, ir iran ghodratollah montazeri digestive disease research center, shariati hospital, tehran, ir iran ehsan fakhari hepatitis b molecular laboratory, department of virology, school of public health, tehran university of medical sciences, tehran, ir iran mehdi norouzi hepatitis b molecular laboratory, department of virology, school of public health, tehran university of medical sciences, tehran, ir iran azam khamseh hepatitis b molecular laboratory, department of virology, school of public health, tehran university of medical sciences, tehran, ir iran

conclusions presence of drug resistance mutations among the patients was significant. precore mutations were common amongst iranian hbv chronic carriers under lamivudine therapy and these mutations were accompanied by clinical relapse. patients and methods sequential sera were obtained from 88 chronic hbv carriers who received lamivudine for more than 24 months. polymerase and precore regions w...

Journal: :international journal of pediatrics 0
masoud dehghan tezerjani reproductive and genetic unit, yazd research and clinical center for infertility, shahid sadoughi university of medical sciences, yazd, iran mohammad yahya vahidi mehrjardi medical genetic research center, shahid sadoughi university of medical sciences, yazd, iran seyed mehdi kalantar reproductive and genetic unit, yazd research and clinical center for infertility, shahid sadoughi university of medical sciences, yazd, iran mohammadreza dehghani medical genetic research center, shahid sadoughi university of medical sciences, yazd, iran

neonatal diabetes mellitus (ndm) is a rare kind of diabetes characterized by hyperglycemia and low levels of insulin. clinically, it is categorized into two main types: transient ndm (tndm) and permanent ndm (pndm). these types are diagnosed based on duration of insulin dependence early in the disease. in tndm, diabetes begins in the first few weeks of life with remission in a few months. howev...

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