نتایج جستجو برای: genetic mutation

تعداد نتایج: 825720  

Hisham Altayb, Intisar Elhag Elrayah Mohamed Ahmed Salih Muataz Mohmed Eldirdery Nadir Abuzeid, Najem Aldin Mohammed Osman Nihad Mohammed Elhaj Yassir Mahgoub Mohamed

Staphylococcus aureus carrying PVL gene remain major health problem associated with highly virulent infections. Characterization of such gene is important to know the impact and the functional significance of nucleotide variations. PCR and standard sequencing were performed for twelve Sudanese strains from different sources. Protein structures prediction, modeling and physiochemical analysis we...

Journal: :international journal of hematology-oncology and stem cell research 0
mehrdad payandeh medical biology research center, kermanshah university of medical sciences, kermanshah, iran. farhad shaveisi zadeh department of medical genetics, faculty of medicine, shahid beheshti university of medical sciences and health services, tehran mohammad erfan zare medical biology research center, kermanshah university of medical sciences, kermanshah, iran; studen kamran mansouri medical biology research center, kermanshah university of medical sciences, kermanshah, iran; depart reza khodarahmi medical biology research center, kermanshah university of medical sciences, kermanshah, iran; depart saeed alimoradi paramedical faculty, kermanshah university of medical sciences, kermanshah, iran

introduction: the myeloproliferative neoplasms (mpns) are a heterogeneous group of diseases characterized by excessive production of blood cells by  hematopoietic precursors. typically, they include polycythemia vera (pv), essential thrombocythemia (et), idiopathic myelofibrosis(imf), and chronic myeloid leukemia (cml). philadelphia chromosome is the final diagnostic test for cml. recently, jak...

Journal: :iranian journal of public health 0
h pour-jafari a zamanian b pour-jafari

background: oculocutaneous albinism type1 (oca1) is characterized by the absence of melanin pigmentation. the muta­tion on tyr gene makes oca1 as an autosomal recessive genetic disorder. in this study, we delineated the genetic analysis of an iranian family with four members affected with oca1.  methods: clinical exams and paraclinical test were performed for all patients of the case family, al...

In the GA approach the parameters that influence its performance include population size, crossover rate and mutation rate. Genetic algorithms are suitable for traversing large search spaces since they can do this relatively fast and because the mutation operator diverts the method away from local optima, which will tend to become more common as the search space increases in size. GA’s are base...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه تربیت مدرس 1377

در تحلیل پایداری شیروانیهای خاکی، یافتن سطح لغزشی که دارای کمترین ضریب اطمینان باشد (سطح لغزش بحرانی)، سابقه ای طولانی دارد. کلیه روشهای که تا به حال برای تعیین سطح لغزش بحرانی غیره دایره ای ارائه شده اند به سه دسته کل تقسیم بندی می شوند، الف) روش عددی حساب تغییرات ب) روشهای توده خاکی ج) روشهای بهینه سازی کلاسیک از سه روش فوق، روشهای بهینه سازی کلاسیک بیشتری کاربرد را در تعیین سطح لغزش بحرانی غ...

Journal: :Congenital Heart Disease 2022

We present the case of an infant admitted to our department for a rapid broad complex tachycardia and cardiovascular collapse. The patient was submitted genetic testing because conduction defect at baseline ECG family history gene mutation. A new SCN5A mutation variant found leading diagnosis sodium-channel dysfunction arrhythmia.

Journal: :archives of medical laboratory sciences 0
hoorieh soleimanjahi department of virology, faculty of medical sciences, tarbiat modares university, tehran, iran taravat bamdad department of virology, faculty of medical sciences, tarbiat modares university, tehran, iran elham ahmadi department of virology, faculty of medical sciences, tarbiat modares university, tehran, iran

lots of viruses, in particular rna viruses, have high mutation rates and relatively short generation times. particle stability during infection in nature or in laboratory triggers the evolutionary event toward different mechanisms such as genome segmentation, point mutation and  recombination. the frequency of mutant genomes increase and modify  the previous distribution, which, consequently, l...

Objective(s): Non-syndromic sensorineural hearing loss (NSHL) is a common disorder affecting approximately 1 in 500 newborns. This type of hearing loss is extremely heterogeneous and includes over 100 loci. Mutations in the GJB2 gene have been implicated in about half of autosomal recessive NSHL (ARNSHL) cases, making this the most common cause of ARNSHL. For the latter form of deafness, most f...

Journal: :genetics in the 3rd millennium 0
نادر لطفعلی زاده  nader lotfalizadeh allameh amini genetics counceling center of social welfare, 17 shahrivar st, tabriz, iranتبریز، خیابان هفده شهریور جدید، مرکز مشاوره علامه امینی بهزیستی معصومه جنت دوست masoumeh janat doust فرحناز ریحانی فر farahnaz reyhanifar نوشین سرخکوه آذری noushin sorkhkoh azari مجید رضائی بصیری majid rezai-basiri شیوا ثقفی shiva saghafi صدیقه نوبخت

diseases of the motor unit are common in children. these diseases are mostly genetically determined. cmt represents a clinically heterogeneous group of disorders caused by aberration of the intimate relationship between the schwann cell sheath and the neural axon, ultimately resulting in axonal death and muscular dennervation. a simple clinical classification of cmt (demyelinating versus axonal...

Journal: :iranian journal of public health 0
n saleh-gohari mr bazrafshani

background: mutations in β -globin gene may result in β-thalassemia major, which is one of the most common genetic dis­or­ders in iran and some other countries. knowing the beta-globin mutation spectrum improves the efficiency of prenatal diagno­sis in the affected fetuses (major β-thalassemia) of heterozygote couples. methods: couples with high hemoglobin a 2 and low mean corpuscular volume we...

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