نتایج جستجو برای: a1298c mutation
تعداد نتایج: 291881 فیلتر نتایج به سال:
introduction: cleft lips and cleft palates are common congenital abnormalities in children. various chromosomal loci have been suggested to be responsible the development of these abnormalities. the present study was carried out to investigate the association between the suspected genes (methylenetetrahydrofolate reductase [mthfr] a1298c and c677t) that might contribute into the etiology of the...
Introduction: Cleft lips and cleft palates are common congenital abnormalities in children. Various chromosomal loci have been suggested to be responsible the development of these abnormalities. The present study was carried out to investigate the association between the suspected genes (methylenetetrahydrofolate reductase [MTHFR] A1298C and C677T) that might contribute into the etiology of the...
Neonatal cerebral sinovenous thrombosis (CSVT) is a rare disease with severe neu rological sequelae. Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the folate cycle, and mutations in MTHFR are associated with vascular diseases. Here, we report the case of a newborn with MTHFR mutationassociated CSVT. Analysis of MTHFR in the patient detected heterozygous C677T (677CT) and A129...
Congenital and acquired thrombophilia are associated with an increased risk of pregnancy-associated venous thrombosis (VT). Several genetic mechanisms have been investigated for their possible relationship with VT. Methyl tetrahydrofolate reductase gene polymorphisms are frequently in the MTHFR gene, which leads to a C to T change at position 677, has been suggested to alter the thrombohemostas...
Introduction. Recurrent spontaneous abortion (RSA) is a significant obstetrical complication that may occur during pregnancy. Various studies in recent years have indicated that two common mutations (C677T and A1298C) of the methylenetetrahydrofolate reductase (MTHFR) gene are risk factor for RSA. This study was carried out to determine the influence of (C677T and A1298C) of the methylenetetrah...
Introduction: Recurrent pregnancy loss (RPL) is defined as two or more consecutive which occurs before the 20th weeks of pregnancies for last menstrual period. Hereditary cause thrombophilic gene mutations and polymorphism may play an essential role in RPLs. Material Method: 291 women with a history abortions study group 61 without miscarriages control were included study. In this we analysed e...
INTRODUCTION Cleft lips and cleft palates are common congenital abnormalities in children. Various chromosomal loci have been suggested to be responsible the development of these abnormalities. The present study was carried out to investigate the association between the suspected genes (methylenetetrahydrofolate reductase [MTHFR] A1298C and C677T) that might contribute into the etiology of thes...
Objective: Neural tube defect (NTD) incidence could be effectively reduced by folic acid supplementation before and during pregnancy. We studied single nucleotide polymorphisms (SNPs) involved in folate metabolism to explore genetic susceptibility to NTD. We studied the association between 12 SNPs involved in 11 folate metabolism genes and NTDs. Methods: We enrolled 76 children with NTD and 188...
background recurrent pregnancy loss (rpl) is a serious problem for pregnancy. there is evidence that vascular complications play a principal role in rpl. methylenetetrahydrofolate reductase (mthfr) is a key enzyme in folate metabolism. polymorphisms (c677t, a1298c) of mthfr gene are associated with decreased mthfr activity. objectives the aim of this study was to determine the association betwe...
BACKGROUND Recurrent pregnancy loss (RPL) is a serious problem for pregnancy. There is evidence that vascular complications play a principal role in RPL. Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in folate metabolism. Polymorphisms (C677T, A1298C) of MTHFR gene are associated with decreased MTHFR activity. OBJECTIVES The aim of this study was to determine the association bet...
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