نتایج جستجو برای: amplified refractory mutation system
تعداد نتایج: 2553865 فیلتر نتایج به سال:
Objective Hydatidiform mole (HM) is an abnormal human pregnancy with excessive trophoblastic proliferation and abnormal embryonic development, which is divided into two Complete (CHM) and Partial (PHM) groups. One subcategory of the CHMs is recurrent and familial, which is known as biparental hydatidiform mole (BiHMs) or recurrent hydatidiform mole (RHM). NLRP7 and KHDC3L, two maternal-effect g...
A new point mutation due to C----T transition at codon 189 (TCA) of the factor VIII:C gene was found in a Chinese patient with moderately severe hemophilia A. This mutation abolishes the EcoRI site (GAATTC) in exon 4 and can be directly detected by polyacrylamide gel electrophoresis of amplified genomic DNA.
We recently identified KCNC3, encoding the Kv3.3 voltage-gated potassium channel, as the gene mutated in SCA13. One g.10684G>A (p.Arg420His) mutation caused late-onset ataxia resulting in a nonfunctional channel subunit with dominant-negative properties. A French early-onset pedigree with mild mental retardation segregated a g.10767T>C (p.Phe448Leu) mutation. This mutation changed the relative ...
مقدمه: میوم ها (لیومیوم یا فیبروئید) تومورهای خوش خیم و تک کلونی سلول های عضله ی صاف دیواره ی رحم می باشند. ترومبو آمبولی وریدی (vte یا venous thromboembolism) از عوارض شایع سرطان است؛ با این حال، سهم عوامل ترومبوتیک در بیماران مبتلا به سرطان نتایج متناقضی دارد. مطالعه ی حاضر به منظور بررسی ارتباط بین پلی مورفیسم ژن عوامل انعقادی و خطر ابتلا به میوم رحمی طراحی و اجرا شد. روش ها: در مطالعه ی حاض...
there are controversial reports regarding the role of peptidylarginine deiminase type 4 (padi4) gene polymorphisms and risk of rheumatoid arthritis (ra). the aim of the present study was to investigate the impact of padi4 rs1748033 polymorphism and susceptibility to ra in a sample of the iranian population.this case-control study was done on 150 patients with ra and 150 healthy subjects.padi4 r...
مقدمه: حدود نیمی از موارد ناباروری زوجین به علت عوامل مردانه است. آزواسپرمی یا الیگواسپرمی شدید و بدون علت که در نتیجه تغییرات ژنتیکی حاصل می شود، بخش مهمی از ناباروری مردان را تشکیل می دهد. یک مرحله مهم در فرآیند اسپرماتوژنزیس وقایع کراسینگ اور در حین نوترکیبی هومولوگ در تقسیم میوز است. پروتئین mlh3 نقش اساسی در فرآیند نوترکیبی و اسپرماتوژنزیس دارد. این مطالعه به بررسی رابطه یک پلی مورفیسم عمل...
background: gastric cancer (gc) is one of the most commonly diagnosed malignancies. genetic variation in genes encoding cytokines and their receptors, determine the intensity of the inflammatory response, which may contribute to individual differences in the outcome and severity of the disease. interleukin-10 (il-10) is a multifunctional cytokine with both immunosuppressive and antiangiogenic f...
Introduction: Infertility is described as the inability to get pregnant after one year of unprotected intercourse. About half of infertility cases are because of male factors. Idiopathic azoospermia or severe oligozoospermia caused by genetic alterations is a significant part of male infertility. A key step of spermatogenesis is crossover events during meiotic reciprocal recombination. MLH3 pro...
Background: Recurrent pregnancy loss (RPL) is a common problem among couples, and acquired thrombophilia is the well-known etiology of RPL. The aim of this study was to establish the association between inherited thrombophilic gene polymorphisms and RPL. Methods: This case-control study was conducted on 50 women with unexplained RPL and 50 parous women with no history of miscarriage (age range...
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