نتایج جستجو برای: arraycgh
تعداد نتایج: 59 فیلتر نتایج به سال:
People carrying a 22q11.2 microduplication display a phenotype varying from normal to severely affected. We report a phenotypically normal female presented with a fetus having a severe congenital heart defect with ventricular septal defect, tricuspid atresia, patent ductus arteriosus and interrupted aortic arch. The pregnant woman had a history of overall three consecutive aberrant pregnancies ...
MOTIVATION Classification and feature selection of genomics or transcriptomics data is often hampered by the large number of features as compared with the small number of samples available. Moreover, features represented by probes that either have similar molecular functions (gene expression analysis) or genomic locations (DNA copy number analysis) are highly correlated. Classical model selecti...
Neoadjuvant chemo(radio)therapy followed by surgery is the standard of care for patients with locally advanced resectable esophageal adenocarcinoma (EAC). There is increasing evidence that drug resistance might be related to genomic heterogeneity. We investigated whether genomic tumor heterogeneity is different after cytotoxic chemotherapy and is associated with EAC patient survival. We used ar...
Meckel syndrome (MKS) is an embryonic lethal, autosomal recessive disorder characterized by polycystic kidney disease, central nervous system defects, polydactyly and liver fibrosis. This disorder is thought to be associated with defects in primary cilia; therefore, it is classed as a ciliopathy. To date, six genes have been commonly associated with MKS (MKS1, TMEM67, TMEM216, CEP290, CC2D2A an...
Eleven affected members of a large German-American family segregating recessively inherited, congenital, non-syndromic sensorineural hearing loss (SNHL) were found to be homozygous for the common 35delG mutation of GJB2, the gene encoding the gap junction protein Connexin 26. Surprisingly, four additional family members with bilateral profound SNHL carried only a single 35delG mutation. Previou...
OF THE DISSERTATION Reduced Representations for Efficient Analysis of Genomic Data; From Microarray to High-throughput Sequencing by Md Pavel Mahmud Dissertation Director: Prof. Alexander Schliep Since the genomics era has started in the ’70s, microarray technologies have been extensively used for biological applications such as gene expression profiling, copy number variation (CNV) or Single N...
We recently identified a DNA copy number aberration (CNA)-based classifier, including changes at 3p26.3-p11.1, 3q26.2-29, and 6p25.3-24.3, as a risk predictor for cancer in individuals presenting with endobronchial squamous metaplasia. The current study was set out to validate the prediction accuracy of this classifier in an independent series of endobronchial squamous metaplastic and dysplasti...
Introduction . 13q14 deletion is the most common chromosomal abnormality in chronic lymphocytic leukemia (CLL), and as sole determines favorable prognosis of disease. Using molecular genetic methods two subtypes were identifi ed based on size lost material: small (type I) with involvement D13S319 segment containing MIR15A / MIR16-1 DLEU1 genes large II) centromeric region involving RB1 gene. Da...
Array-based comparative genomic hybridization (arrayCGH) is a microarray-based comparative genomic hybridization technique that has been used to compare tumor genomes with normal genomes, thus providing rapid genomic assays of tumor genomes in terms of copy-number variations of those chromosomal segments that have been gained or lost. When properly interpreted, these assays are likely to shed i...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید