نتایج جستجو برای: a1298c mutation

تعداد نتایج: 291881  

Journal: :iranian journal of otorhinolaryngology 0
shahin abdollahi-fakhim department of pediatric otorhinolaryngology, children’s hospital, tabriz university of medical sciences, tabriz, iran. mehrdad asghari estiar department of medical genetics, school of medicine, tehran university of medical sciences, tehran, iran. parizad varghaei faculty of medicine, tabriz university of medical sciences, tabriz, iran mahdi alizadeh sharafi tabriz genetic analysis center (tgac), tabriz university of medical sciences, tabriz, iran. masoud sakhinia faculty of medicine, university of liverpool, liverpool, united kingdom. ebrahim sakhinia tuberculosis and lung disease research center, tabriz university of medical sciences, tabriz, iran.

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...

2016
Seh Hyun Kim

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...

2012
Ayse Arduc Serhat Isik Ufuk Ozuguz Gulhan Akbaba Dilek Berker Serdar Guler

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...

2012
Ahmad Poursadegh Zonouzi Nader Chaparzadeh Mehrdad Asghari Estiar Mahzad Mehrzad Sadaghiani Laya Farzadi Alieh Ghasemzadeh Masoud Sakhinia Ebrahim Sakhinia

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...

Journal: :Genetika 2022

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...

2015
Shahin Abdollahi-Fakhim Mehrdad Asghari Estiar Parizad Varghaei Mahdi Alizadeh Sharafi Masoud Sakhinia Ebrahim Sakhinia

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...

2016
Qin Zhu Li Li Ting Wang Wei Jiang Jie Ding Minjuan Liu Yun Wang Haibo Li

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...

Journal: :iranian red crescent medical journal 0
elham yousefian department of midwifery, islamic azad university falavarjan branch, isfahan, ir iran; department of midwifery, islamic azad university falavarjan branch, isfahan, ir iran. tel: +98-3123120136 mohammad taghi kardi department of biology, university of isfahan, isfahan, ir iran azra allahveisi department of anatomy, faculty of medicine, kurdistan university of medical sciences, sannandaj, ir iran

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...

2014
Elham Yousefian Mohammad Taghi Kardi Azra Allahveisi

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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