Results 31 to 40 of about 115,857 (367)

Susceptibility loci CNVs with incomplete penetrance accurate diagnosis with uncertain prognosis [PDF]

open access: yes, 2019
Chromosomal microarray analysis (CMA) is the first-tier test for developmental delay, autism spectrum disorders, and congenital abnormalities in postnatal diagnosis and for ultrasound abnormalities in prenatal diagnosis.
Correia, Hildeberto   +2 more
core   +4 more sources

Detection of monosomy 7 in interphase cells of patients with myeloid disorders [PDF]

open access: yes, 1990
Six patients, five with acute myeloid leukemia (AML) and one with a myelodysplastic syndrome (MDS), were found to have monosomy 7 by conventional cytogenetics at diagnosis.
Cremer, Thomas   +5 more
core   +1 more source

HIVEP3 cooperates with ferroptosis gene signatures to confer adverse prognosis in acute myeloid leukemia

open access: yesCancer Medicine, Volume 11, Issue 24, Page 5050-5065, December 2022., 2022
The aberrant expression pattern and prognostic implications of HIVEP3 in AML were explored and validated based on versatile bioinformatics tools. A LASSO model which combined HIVEP3 with ferroptosis regulators was created to predict the prognosis for AML patients.
Xiaoning Zhang   +6 more
wiley   +1 more source

Analysis of hybridization in French wild boar populations using genome-wide genotyping data [PDF]

open access: yesarXiv, 2021
The "genetic purity" of French wild boar populations has been monitored since the 1980s based on a cytogenetic difference between wild boars and domestic pigs (36 and 38 chromosomes, respectively). This difference makes it possible to identify any boar with 37 or 38 chromosomes as "hybrid", without however being able to determine the origin (recent or ...
arxiv  

Radiosensitization of calreticulin‐overexpressing human glioma cell line by the polyphenolic acetate 7, 8‐diacetoxy‐4‐methylcoumarin

open access: yesCancer Reports, Volume 5, Issue 12, December 2022., 2022
Abstract Background Calreticulin (CRT), an endoplasmic reticulum–resident protein generally overexpressed in cancer cells, is associated with radiation resistance. CRT shows higher transacetylase activity, as shown by us earlier, in the presence of the polyphenolic acetates (like 7, 8‐diacetoxy‐4‐methylcoumarin, DAMC) and modifies the activity of a ...
Amit Verma   +6 more
wiley   +1 more source

An explainable model to support the decision about the therapy protocol for AML [PDF]

open access: yes, 2023
Acute Myeloid Leukemia (AML) is one of the most aggressive types of hematological neoplasm. To support the specialists' decision about the appropriate therapy, patients with AML receive a prognostic of outcomes according to their cytogenetic and molecular characteristics, often divided into three risk categories: favorable, intermediate, and adverse ...
arxiv   +1 more source

Use of a hybrid intelligence decision tree to identify mature B‐cell neoplasms

open access: yesCytometry Part B: Clinical Cytometry, EarlyView., 2023
Abstract Background Mature B‐cell neoplasms are challenging to diagnose due to their heterogeneity and overlapping clinical and biological features. In this study, we present a new workflow strategy that leverages a large amount of flow cytometry data and an artificial intelligence approach to classify these neoplasms. Methods By combining mathematical
Inès Vergnolle   +4 more
wiley   +1 more source

Cytogenetics and molecular cytogenetics in Hodgkin's disease

open access: yesAnnals of Oncology, 1996
For about 20 years we have known from cytogenetic studies that there is a clonal cell population in Hodgkin's disease. Most karyotypes are complexly aberrant and chromosome numbers typically lie in the hyperploid range. Some chromosome regions seem to be preferentially involved, but a chromosome aberration specific for Hodgkin's disease has not yet ...
K. Weber-Matthiesen   +2 more
openaire   +2 more sources

Human molecular cytogenetics: from cells to nucleotides

open access: yesGenetics and Molecular Biology, 2014
The field of cytogenetics has focused on studying the number, structure, function and origin of chromosomal abnormalities and the evolution of chromosomes. The development of fluorescent molecules that either directly or via an intermediate molecule bind
Mariluce Riegel
doaj   +1 more source

Molecular testing of soft tissue tumors

open access: yesDiagnostic Cytopathology, Volume 51, Issue 1, Page 12-25, January 2023., 2023
Abstract Background The diagnosis of soft tissue tumors is challenging, especially when the evaluable material procured is limited. As a result, diagnostic ancillary testing is frequently needed. Moreover, there is a trend in soft tissue pathology toward increasing use of molecular results for tumor classification and prognostication. Hence, diagnosing
Douglas Rottmann   +2 more
wiley   +1 more source

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