搜索结果: 1-15 共查到“医学遗传学 patients”相关记录19条 . 查询时间(0.119 秒)
Comparison of Plasma Oxidative Biomarkers and Conformational Modifications of Hemoglobin in Patients With Diabetes on Hemodialysis
Hemodialysis Hemoglobin Oxidative Stress Plasma
2015/10/15
Background: Diabetes is associated with an increased generation of reactive oxygen species (ROS), which plays an important role in the development of oxidative stress and anemia.
Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic Mental Retardation
Ligation Mental Retardation Hypersomnolence Idiopathic
2015/10/9
Background: Mental retardation/Developmental delay (MR/DD) is present in 1 - 3% of the general population (1, 2). MR is defined as a significant impairment of both cognitive (IQ < 70) and social adapt...
Correlation of del13q, del11q and Trisomy 12 with Laboratory and Clinical Features of Chronic Lymphocytic Leukemia in Iranian Patients
Chronic lymphocytic leukemia Chromosomal aberrations Rai stages CD markers Iran
2015/9/21
Background: There is a strong association between chromosomal abnormalities and laboratory features and clinical course of the B-cell chronic lymphocytic leukemia (B-CLL). The aim of this study was to...
Genetic signature in TB patients sheds light on disease
Genetic signature TB patients disease
2010/8/26
Medical Research Council (MRC) scientists have uncovered a ‘genetic signature’ in the blood of patients with active tuberculosis (TB). This discovery could not only serve as the basis of future diagno...
STUDY OF SEX,AGE AND BLOOD GROUPS (ABO,Rh) DISTRIBUTIONS IN THALASSEM IA PATIENTS IN IRAN
SEX AGE AND BLOOD GROUPS DISTRIBUTIONS THALASSEM PATIENTS IRAN
2009/12/31
Thalassemias, because of climatic, geographic and ecological conditions, are the most common among the genetically endemic in Iran, especially m provinces adjacent to the Caspian Sea and the Persian G...
The Effects of Arsenic Trioxide and Zoledronic Acid on Malignant Plasma Cells Derived from Bone Marrow Cells of Multiple Myeloma Patients
Multiple myeloma Arsenic trioxide Zoledronic acid Real time PCR Gene expression
2009/12/14
Background: Multiple myeloma (MM) is a disease of plasma cells that has fatal consequences. New agents associated with molecular targets have prompted clinical investigators to design new treatme...
Deletion and Testicular Expression of DAZ (Deleted in Azoospermia) Gene in Patients with Non-Obstructive Azoospermia
Infertility Deleted in Azoospermia Gene Y Chromosome Azoospermia Iran
2009/11/26
Background: Deletions of the DAZ (deleted in azoospermia) genes within the human Y chromosome's AZFc region are the most common cause of spermatogenesis failure. These deletions are usually assessed b...
Expression of Fas Antigen and Bcl-2 Protein in Liver Tissues of Patients with Chronic Hepatitis B
Fas antigen Bcl-2 protein chronic hepatitis B
2009/6/29
The aim of this study was to evaluate the role of apoptosis in chronic hepatitis B, and correlate it with disease severity. We studied the expression of the Fas antigen (FasAg) and Bcl-2 protein in a ...
A Preliminary Study of DNA Damage in Peripheral Lymphocytes from Lung Cancer Patients and Healthy Subjects
Comet assay DNA damage Lung cancer Lymphocyte
2009/6/24
A pilot study was undertaken to investigate the differences in oxidative DNA damage and 2-h DNA repair in peripheral lymphocytes between lung cancer patients and healthy subjects. Twenty-four lung ca...
Expression Analysis of DEK, AF4 and FLI1 Genes in All-Trans-Retinoic Acid (ATRA) Treated Acute Promyelocytic Leukaemia t(15;17) Patients by Quantitative Real-Time PCR
DEK AF4 FLI1 Acute Promyelocytic Leukemia All-Trans-Retimic Acid
2009/6/23
All-trans retinoic acid (ATRA) sensitivity of acute promyelocytic leukaemia (APL) cells is strictly dependent on the presence of t(15;17), but the molecular background of this sensitivity remains obsc...
Mutational Analysis of the MEFV Gene in Egyptian Patients with Familial Mediterranean Fever
Department of Paediatric Molecular Genetics,Faculty of Medicine,Ankara University,Ankara-TURKEY Children's Hospital,Ain Shams University,Cairo,EGYPT
2009/5/20
Aim: Familial Mediterranean fever is an autosomal recessive disease affecting primarily populations surrounding the Mediterranean basin. The aim of this study was to find the distribution of MEFV gen...
苯丙氨酸羟化酶（PAH）基因外显子7及其两侧内含子的突变研究Mutations in Exon 7 of the Phenylalanine Hydroxylase（PAH）Gene in Chinese Patients with Phenylketonuria
苯丙氨酸羟化酶 外显子 基因突变 单链构象多态性 序列分析
2008/1/6
为探讨中国苯丙酮尿症（PKU）人群中苯丙氨酸羟化酶（PAH）基因外显子7的突变特征，对147例PKU患儿的294个PAH基因外显子7以及两侧部分内含子序列，应用PCR－单链构象多态性（SSCP）分析及基因序列分析的方法进行了筛查和确定。共发现13种突变基因：G239D、R241C、R241fs、R243Q、G247S、G247V、R252Q、L255S、R261Q、M276K、E280G、P281...
Study of α1-Antitrypsin Phenotypes Frequencies in Patients with Primary Antibody Deficiency
Allele Alpha-1-Antitrypsin Antibody Deficiency Bronchiectasis
2010/2/3
Primary antibody deficiencies are the most frequent primary immunodeficiency disorders. Bronchiectasis as a feature of these disorders may be developed due to some factors such α-1-antitrypsin deficie...
Anti-allergic effect of apple polyphenol on patients with atopic dermatitis: A pilot study
anti-allergic effect apple polyphenol atopic dermatitis
2010/11/25
The aim of the present study was to evaluate the anti-allergic effect of apple condensed tannins (ACT) in patients with atopic dermatitis (AD) as a pilot study. An ACT supplement given to the patients...
Mutation Analysis of CFTR Gene in 70 Iranian Cystic Fibrosis Patients
Cystic fibrosis Cystic fibrosis transmembrane conductance regulator Mutations Iran Single-stranded conformational polymorphism
2010/2/3
Cystic fibrosis (CF) is the most common inherited disorder in Caucasian populations, with over 1400 cystic fibrosis transmembrane conductance regulator (CFTR) mutations. The type of mutations and thei...