Results 81 to 90 of about 231,105 (412)

23rd International Colloquium on Animal Cytogenetics and Genomics (23 ICACG) June 9–12, 2018, Saint-Petersburg, Russia

open access: yesComparative Cytogenetics, 2018
In memory of Ingemar Gustavsson 23rd International Colloquium on Animal Cytogenetics and Genomics (23 ICACG) took place in June 9–12, 2018 in Saint-Petersburg, Russia. Organized biennially, the Colloquium runs from 1970.
Svetlana Galkina, Maria Vishnevskaya
doaj   +3 more sources

The Karyotype Ontology: a computational representation for human cytogenetic patterns [PDF]

open access: yesarXiv, 2013
The karyotype ontology describes the human chromosome complement as determined cytogenetically, and is designed as an initial step toward the goal of replacing the current system which is based on semantically meaningful strings. This ontology uses a novel, semi-programmatic methodology based around the tawny library to construct many classes rapidly ...
arxiv  

Polyploid races, genetic structure and morphological features of earthworm Aporrectodea rosea (Savigny, 1826) (Oligohaeta: Lumbricidae) in Ukraine [PDF]

open access: yes, 2011
Four chromosomal races (2n=36, 3n=54, 6n=108, 8n=144) and 96 clones have been revealed among 224 specimens of the earthworm A. rosea over the territory of Ukraine by means of karyological analysis and biochemical genetic marking.
Garbar, А. V.   +3 more
core  

Serial assessment of suspected myelodysplastic syndromes: significance of flow cytometric findings validated by cytomorphology, cytogenetics, and molecular genetics

open access: yesHaematologica, 2013
The significance of flow cytometry indicating myelodysplasia without proof of myelodysplasia by cytomorphology remains to be clarified. We evaluated follow-up analyses in 142 patients analyzed in parallel by flow cytometry, cytomorphology and ...
W. Kern   +4 more
semanticscholar   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo   +4 more
wiley   +1 more source

Biological Dosimetry - Cytogenetics Findings At Persons Occupationally Exposed To Ionizing Radiation

open access: yesBiomolecules & Biomedicine, 2006
A large number of physical and chemical agents are capable to course chromosomal aberrations. Ionizing radiation is frequent and well known course of chromosomal aberrations. If deoxyribonucleic acid (DNA) is irradiated before synthesis chromosomal-type
Amra Ćatović, Fikreta Tanacković
doaj   +1 more source

Alternative statistical methods for cytogenetic radiation biological dosimetry [PDF]

open access: yesarXiv, 2014
The paper presents alternative statistical methods for biological dosimetry, such as the Bayesian and Monte Carlo method. The classical Gaussian and robust Bayesian fit algorithms for the linear, linear-quadratic as well as saturated and critical calibration curves are described. The Bayesian model selection algorithm for those curves is also presented.
arxiv  

Clinical relevance of mutations and gene-expression changes in adult acute myeloid leukemia with normal cytogenetics: are we ready for a prognostically prioritized molecular classification?

open access: yesBlood, 2007
Recent molecular analyses of leukemic blasts from pretreatment marrow or blood of patients with acute myeloid leukemia (AML) and a normal karyotype, the largest cytogenetic subset (ie, 40%-49%) of AML, have revealed a striking heterogeneity with regard ...
K. Mrózek   +4 more
semanticscholar   +1 more source

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp   +7 more
wiley   +1 more source

Post-cancer Treatment with Condurango 30C Shows Amelioration of Benzo[a]pyrene-induced Lung Cancer in Rats Through the Molecular Pathway of Caspa- se-3-mediated Apoptosis Induction

open access: yesJournal of Pharmacopuncture, 2013
Objectives: The present investigation aimed at examining if post-cancer treatment with a potentized homeopathic drug, Condurango 30C, which is generally used to treat oesophageal cancer, could also show an ameliorating effect through apoptosis induction ...
Sikdar Sourav   +6 more
doaj   +1 more source

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