Results 41 to 50 of about 174,992 (335)

Caryoscope: An Open Source Java application for viewing microarray data in a genomic context

open access: yesBMC Bioinformatics, 2004
Background Microarray-based comparative genome hybridization experiments generate data that can be mapped onto the genome. These data are interpreted more easily when represented graphically in a genomic context.
Ball Catherine A   +4 more
doaj   +1 more source

Genomic aberrations relate early and advanced stage ovarian cancer [PDF]

open access: yes, 2012
Background Because of the distinct clinical presentation of early and advanced stage ovarian cancer, we aim to clarify whether these disease entities are solely separated by time of diagnosis or whether they arise from distinct molecular events.
AB Olshen   +22 more
core   +2 more sources

Genomic profiling of oral squamous cell carcinoma by array-based comparative genomic hybridization. [PDF]

open access: yesPLoS ONE, 2013
We designed a study to investigate genetic relationships between primary tumors of oral squamous cell carcinoma (OSCC) and their lymph node metastases, and to identify genomic copy number aberrations (CNAs) related to lymph node metastasis.
Shunichi Yoshioka   +9 more
doaj   +1 more source

An HMM-based Comparative Genomic Framework for Detecting Introgression in Eukaryotes [PDF]

open access: yes, 2013
One outcome of interspecific hybridization and subsequent effects of evolutionary forces is introgression, which is the integration of genetic material from one species into the genome of an individual in another species.
Dai, Jingxuan   +5 more
core   +2 more sources

Array comparative genomic hybridization with cyanin cis-platinum-labeled DNAs

open access: yesBioTechniques, 2004
Fluorescent cis-platinum compounds that react with the N7 atom of guanine are useful for labeling nucleic acids in fluorescence hybridization applications.
Anton K. Raap   +8 more
doaj   +1 more source

Chromosome-breakage genomic instability and chromothripsis in breast cancer [PDF]

open access: yes, 2014
Background: Chromosomal breakage followed by faulty DNA repair leads to gene amplifications and deletions in cancers. However, the mere assessment of the extent of genomic changes, amplifications and deletions may reduce the complexity of genomic data ...
Barrett, Michael T   +6 more
core   +1 more source

Insights into pegRNA design from editing of the cardiomyopathy‐associated phospholamban R14del mutation

open access: yesFEBS Letters, EarlyView.
This study reveals how prime editing guide RNA (pegRNA) secondary structure and reverse transcriptase template length affect prime editing efficiency in correcting the phospholamban R14del cardiomyopathy‐associated mutation. Insights support the design of structurally optimized enhanced pegRNAs for precise gene therapy.
Bing Yao   +7 more
wiley   +1 more source

Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature

open access: yesJournal of Medical Case Reports, 2022
Background Chromosome 13q deletion syndrome shows variable clinical features related to the different potential breakpoints in chromosome 13q. The severely malformed phenotype is known to be associated with the deletion of a critical region in 13q32 ...
Tomomi Kotani   +10 more
doaj   +1 more source

Strong Association of De Novo Copy Number Mutations with Autism [PDF]

open access: yes, 2007
We tested the hypothesis that de novo copy number variation (CNV) is associated with autism spectrum disorders (ASDs). We performed comparative genomic hybridization (CGH) on the genomic DNA of patients and unaffected subjects to detect copy number ...
Bregman, J.   +31 more
core   +1 more source

Response to neoadjuvant chemotherapy in early breast cancers is associated with epithelial–mesenchymal transition and tumor‐infiltrating lymphocytes

open access: yesMolecular Oncology, EarlyView.
Epithelial–mesenchymal transition (EMT) and tumor‐infiltrating lymphocytes (TILs) are associated with early breast cancer response to neoadjuvant chemotherapy (NAC). This study evaluated EMT and TIL shifts, with immunofluorescence and RNA sequencing, at diagnosis and in residual tumors as potential biomarkers associated with treatment response.
Françoise Derouane   +16 more
wiley   +1 more source

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