Detection of the C282Y and H63D polymorphisms associated with hereditary hemochromatosis using the ABI 7500 fast real time PCR platform [0.03%]
应用ABI 7500快速荧光定量PCR平台检测遗传性血色病相关基因C282Y和H63D突变型
Laura J Tafe,Dorothy R Belloni,Gregory J Tsongalis
Laura J Tafe
Classic hereditary hemochromatosis is an autosomal recessive disorder characterized by iron overload and sequence variants in the HFE gene. The HFE gene is located at 6p21.3 and contains 2 common single nucleotide polymorphisms (SNPs) C282Y...
Primary Ewing sarcoma of the brain: a case report and literature review [0.03%]
原发于脑的原始神经外胚层瘤一例并文献复习
Syed Ali Jaffar Kazmi,Arie Perry,Joseph G Pressey et al.
Syed Ali Jaffar Kazmi et al.
Ewing sarcoma, along with peripheral primitive neuroectodermal tumor, belongs to a tumor family that shares clinicopathologic and molecular genetic features, including the characteristic chromosomal translocation that results in the fusion ...
Epigenetic inactivation of the hMLH1 gene in progression of gliomas [0.03%]
与glioma进展相关的hMLH1基因表观遗传学失活
Eva Gömöri,József Pál,István Mészáros et al.
Eva Gömöri et al.
Gliomas (GLs) are characterized by highly variable biologic behavior. After surgical resection and postoperative therapy, they frequently recur with the same or higher-grade histology. Although a number of genetic aberrations have been desc...
Chromosomal alteration in Chinese sporadic colorectal carcinomas detected by comparative genomic hybridization [0.03%]
比较基因组杂交检测散发性结直肠癌染色体异常
Xiu-Ying Xiao,Xiao-Yan Zhou,Ge Yan et al.
Xiu-Ying Xiao et al.
Much information has been reported on the genetic and genomic alterations in colorectal cancer (CRC) in literature; however, nonrandom chromosomal alterations in Chinese CRC patients have only one report in Hong Kong. To further identify ge...
Limitations in molecular detection of lymph node micrometastasis from colorectal cancer [0.03%]
结直肠癌淋巴结微转移分子检测的局限性
Felix Klebig,Carsten Fischer,Susan Petri et al.
Felix Klebig et al.
Colorectal cancer patients with lymph node metastasis have a shorter survival and may require adjuvant therapy after surgery of the primary tumor. It is supposed that a more reliable diagnosis can be achieved using tumor-specific DNA mutati...
Molecular alterations in atypical adenomatous hyperplasia occurring in benign and cancer-bearing lungs [0.03%]
良性及恶性肺组织中不典型腺样增生的分子改变
Joel F Gradowski,Geeta S Mantha,Jennifer L Hunt et al.
Joel F Gradowski et al.
Atypical adenomatous hyperplasia (AAH) is considered to be a precursor lesion of the lung adenocarcinoma. Several genetic abnormalities have been reported in AAH associated with adenocarcinoma, but little is known about AAH associated with ...
Application of real-time PCR to recognize atypical mycobacteria in archival skin biopsies: high prevalence of Mycobacterium haemophilum [0.03%]
实时PCR技术在识别存档皮肤活检标本中的非典型分枝杆菌的应用：M.haemophilum的高流行率
Lesla S Bruijnesteijn van Coppenraet,Vincent T H B M Smit,Kate E Templeton et al.
Lesla S Bruijnesteijn van Coppenraet et al.
Atypical mycobacterial skin infections are difficult to diagnose owing to their aspecific histopathologic presentations and to the presence of few bacteria. Therefore, these infections are often not recognized. Molecular detection of mycoba...
Analytic validation of a quantitative real-time PCR assay to measure CMV viral load in whole blood [0.03%]
用于检测外周血CMV拷贝数的实时定量PCR方法的验证分析
Leigh B Thorne,Chris Civalier,Jessica Booker et al.
Leigh B Thorne et al.
Cytomegalovirus (CMV) is a significant cause of morbidity and mortality in immunocompromised patients. We compared the CMV pp65 antigenemia test with a less labor intensive quantitative polymerase chain reaction (PCR) assay in 109 whole blo...
Optimization of RNA extraction from formalin-fixed, paraffin-embedded lymphoid tissues [0.03%]
福尔马林固定石蜡包埋淋巴组织RNA提取方法的优化
Jun Chen,Gerald E Byrne Jr,Izidore S Lossos
Jun Chen
Comprehensive analysis of gene expression using RNA extracted from frozen lymphoma specimens is becoming increasingly important for understanding disease pathogenesis, disease subclassification, and prognostication. As paraffin tissues are ...
Validation of cystic fibrosis mutation analysis using ABI 3130XL genetic analyzer [0.03%]
ABI 3130XL遗传分析仪检测囊性纤维化病突变的验证研究
Chih-Kang Huang,Qiulu Pan
Chih-Kang Huang
Cystic fibrosis (CF) is one of the most common autosomal recessive diseases in the white population, with a prevalence estimate of 1 in 2500 to 3300 live births. CF is characterized by viscous mucus in the lungs with involvement of digestiv...