Results 41 to 50 of about 36,631 (311)

Double aneuploidy 48,ХХХ,+21 of a Bulgarian newborn with Down phenotype: a case report

open access: yesEgyptian Journal of Medical Human Genetics, 2020
Background Aneuploidy is one of the most important chromosomal aberrations, which involves an abnormal number of the chromosomes. Trisomy 21 (Down syndrome) and numerical aberrations of the sex chromosomes have a relatively high prevalence in the general
Mariya Tsvetkova   +5 more
doaj   +1 more source

The micronucleus assay as a biological dosimeter of in vivo ionising radiation exposure [PDF]

open access: yes, 2010
Biological dosimetry, based on the analysis of micronuclei (MN) in the cytokinesis-block micronucleus (CBMN) assay can be used as an alternative method for scoring dicentric chromosomes in the field of radiation protection.
Fenech, Michel   +2 more
core   +2 more sources

Epigenetic blind spots – the role of DNA methylation dynamics in stem cell‐based models of embryogenesis

open access: yesFEBS Letters, EarlyView.
Embryo‐like structures (stembryos) are an innovative tool, but they are hindered by experimental variability and limited developmental potential. DNA methylation is crucial for mammalian development, but its status in stembryo models is poorly characterized.
Sara Canil   +4 more
wiley   +1 more source

Genetic disorders and male infertility

open access: yesReproductive Medicine and Biology, 2020
Background At present, one out of six couples is infertile, and in 50% of cases, infertility is attributed to male infertility factors. Genetic abnormalities are found in 10%‐20% of patients showing severe spermatogenesis disorders, including non ...
Shinnosuke Kuroda   +6 more
doaj   +1 more source

Cell-free DNA screening for sex chromosomal aneuploidies in 9985 pregnancies: Italian single experience

open access: yesBMC Research Notes, 2020
Objective Non invasive prenatal testing (NIPT) using cell-free fetal DNA (cffDNA) has been widely accepted in recent years to detect common fetal autosomal chromosome aneuploidies and sex chromosome aneuploidies (SCAs).
Katia Margiotti   +8 more
doaj   +1 more source

Induction of chromosome shattering by ultraviolet light and caffeine: The influence of different distributions of photolesions [PDF]

open access: yes, 1986
Cells of synchonized and of asynchronously growing cultures of a V79 Chinese hamster line were microirradiated with a low poweer laser-UV-microbeam of wavelength 257 nm.
Barranco   +42 more
core   +1 more source

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

open access: yesMolecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley   +1 more source

Clinical Importance of aCGH in Genetic Counselling of Children with Psychomotor Retardation

open access: yesThe Application of Clinical Genetics, 2022
Magdalena Pasińska,1 Ewelina Łazarczyk,1 Anna Repczyńska,1 Agnieszka Sobczyńska-Tomaszewska,2 Janusz Zimowski,3 Agata Runge,1 Olga Haus1 1Department of Clinical Genetics, Faculty of Medicine, Collegium Medicum in Bydgoszcz ...
Pasińska M   +6 more
doaj  

Discrepancy of QF-PCR, CMA and karyotyping on a de novo case of mosaic isodicentric Y chromosomes

open access: yesMolecular Cytogenetics, 2019
Background Isodicentric chromosomes are the most frequent structural aberrations of human Y chromosome, and usually present in mosaicism with a 45, X cell line.
Yuan Liu   +9 more
doaj   +1 more source

DNMTs are required for delayed genome instability caused by radiation [PDF]

open access: yes, 2012
This is an open-access article licensed under a Creative Commons Attribution-NonCommercial 3.0 Unported License. The article may be redistributed, reproduced, and reused for non-commercial purposes, provided the original source is properly cited ...
Anderson, RM   +10 more
core   +2 more sources

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