Results 81 to 90 of about 119,248 (358)

Chromosomal Aberrations in Ophthalmology [PDF]

open access: yesAmerican Journal of Ophthalmology, 1976
The development in 1956 of an effective method for human chromosome study and the subsequent demonstration in 1959 that patients with Down syndrome have 47 chromosomes opened a new era in medical genetics. Since then, cytogenetics, the study of the relationship of the microscopic appearance of chromosomes to the genotype and phenotype of the individual,
  +7 more sources

Cytogenetic Findings in Mentally Retarded Iranian Patients

open access: yesBalkan Journal of Medical Genetics, 2012
We conducted a cytogenetic study on 865 individuals with idiopathic mental retardation (MR) who were admitted to the Cytogenetics Department of the Iran Blood Transfusion Organisation (IBTO) Research Centre, Tehran, Iran; these were performed on blood ...
Nasiri F.   +5 more
doaj   +1 more source

Classification of acute myeloid leukemia based on multi‐omics and prognosis prediction value

open access: yesMolecular Oncology, EarlyView.
The Unsupervised AML Multi‐Omics Classification System (UAMOCS) integrates genomic, methylation, and transcriptomic data to categorize AML patients into three subtypes (UAMOCS1‐3). This classification reveals clinical relevance, highlighting immune and chromosomal characteristics, prognosis, and therapeutic vulnerabilities.
Yang Song   +13 more
wiley   +1 more source

Rapid generation of chromosome-specific alphoid DNA probes using the polymerase chain reaction [PDF]

open access: yes, 1992
Non-isotopic in situ hybridization of chromosome-specific alphoid DNA probes has become a potent tool in the study of numerical aberrations of specific human chromosomes at all stages of the cell cycle. In this paper, we describe approaches for the rapid
A Gnirke   +33 more
core   +1 more source

Frequency and Spectrum of Chromosomal Aberrations, Acrocentric Chromosome Associations Among Long Livers with Arterial Hypertension and Osteoarthritis Residing in the Carpathian Region

open access: yesGalician Medical Journal, 2017
The frequency and spectrum of chromosomal aberrations, acrocentric chromosome associations among 264 long livers with arterial hypertension and osteoarthritis residing in the Carpathian region were analyzed.
Ruslan Kozoviy
doaj   +1 more source

Transcriptome‐wide analysis of circRNA and RBP profiles and their molecular relevance for GBM

open access: yesMolecular Oncology, EarlyView.
CircRNAs are differentially expressed in glioblastoma primary tumors and might serve as therapeutic targets and diagnostic markers. The investigation of circRNA and RNA‐binding proteins (RBPs) interactions shows that distinct RBPs play a role in circRNA biogenesis and function.
Julia Latowska‐Łysiak   +14 more
wiley   +1 more source

The level of chromosome aberrations and the activity of chromosomes' kernel-forming areas in the Kursk region

open access: yesRUDN Journal of Ecology and Life Safety, 2009
The aim of the research is the study of the regularity of the phenotypic manifestation of the level of chromosome aberrations and of the transcriptional activity of chromosomes' kernel-forming areas on the example of arterial hypertension development ...
I N Medvedev, I V Amelina
doaj  

Comparing self‐reported race and genetic ancestry for identifying potential differentially methylated sites in endometrial cancer: insights from African ancestry proportions using machine learning models

open access: yesMolecular Oncology, EarlyView.
Integrating ancestry, differential methylation analysis, and machine learning, we identified robust epigenetic signature genes (ESGs) and Core‐ESGs in Black and White women with endometrial cancer. Core‐ESGs (namely APOBEC1 and PLEKHG5) methylation levels were significantly associated with survival, with tumors from high African ancestry (THA) showing ...
Huma Asif, J. Julie Kim
wiley   +1 more source

Chromosome Oscillations in Mitosis [PDF]

open access: yes, 2005
Successful cell division requires a tight regulation of chromosome motion via the activity of molecular motors. Many of the key players at the origin of the forces generating the movement have been identified, but their spatial and temporal organization remains elusive.
arxiv   +1 more source

Bayesian estimation of dynamic weights in Gaussian mixture models [PDF]

open access: yesarXiv, 2021
This paper proposes a generalization of Gaussian mixture models, where the mixture weight is allowed to behave as an unknown function of time. This model is capable of successfully capturing the features of the data, as demonstrated by simulated and real datasets. It can be useful in studies such as clustering, change-point and process control.
arxiv  

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