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Informatics Approaches to Linking Mutations to Biological Pathways, Networks and Clinical Data
Networks Linking Mutations Biological Pathways
2015/5/26
The information gained from sequencing of the human genome has begun to transform human biology and genetic medicine. The discovery of functionally important genetic variation lies at the heart of the...
Clinical and Molecular Aspects of Sjogren-Larsson Syndrome Reported in an Iranian Consanguineous Family with Triplet Affected Individuals
Sjogren-Larsson Skin disease Mutation Iran
2015/9/25
Background: Sjogren Larsson Syndrome (SLS; OMIM: 270200) is an autosomal recessive neuro-cutaneous disorder characterized by mental retardation, congenital ichthyosis and spastic paraplegia. SLS is ca...
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 Variability of the Serine-Rich Gene of Entamoeba histolytica in Clinical Isolates from Turkey
E.histolytica SREHP serine rich E.histolytica protein PCR genetic diversity
2009/6/16
Aim: The spectrum of clinical intestinal disease due to Entamoeba histolytica infection ranges from an asymptomatic carrier state to fulminant colitis with an array of manifestations. The extent of st...
MJD基因CAG不稳定性扩增与临床研究Gene Mutation and Clinical Analysis in Machado-Joseph Disease
Machado-Joseph病 基因突变 临床电生理
2007/12/7
摘要为了解Machado-Joseph病(MJD)基因突变及临床的神经电生理特点, 对16个诊断为遗传性小脑性共济失调(SCA)家系的45例病人及30例家系的“正常”人作MJD基因突变分析，检出MJD基因的病人行肢体运动及感觉神经传导速度(MCV及SCV)、脑干诱发电位(BAEP)，视觉诱发电位(VEP)的检查。结果检出10个家系25例病人及1例症状前18岁女孩有MJD基因突变，CAG三核苷酸重复...