Results 81 to 90 of about 93,321 (331)
Aneuploidy in sperm of fertile men and patients with impaired fertility
Андрология и генитальная хирургия, 2021 The review presents generalized current data on sperm aneuploidy in healthy (fertile) men and infertile male patients with a normal karyotype and with chromosomal abnormalities.
A. O. Sedova +2 more
doaj +1 more source
Developmental Dynamics, EarlyView.Abstract Background Mutations in cohesins cause cohesinopathies such as Cornelia de Lange Syndrome (CdLS) and Roberts Syndrome (RBS). Prior findings demonstrate that Esco2 (a cohesin activator) and Smc3 (a core cohesin subunit) regulate the CRL4 E3 ubiquitin ligase. SMC3 mutations, however, account for a small percentage of CdLS.
Annie C. Sanchez +4 more
wiley +1 more source
Catastrophic chromosomal restructuring during genome elimination in plants. [PDF]
, 2015 Genome instability is associated with mitotic errors and cancer. This phenomenon can lead to deleterious rearrangements, but also genetic novelty, and many questions regarding its genesis, fate and evolutionary role remain unanswered.
Bradnam, Keith R +9 more
core +1 more source
Aneuploidy in Early Miscarriage and its Related Factors
Chinese Medical Journal, 2015 Background: Genetic factors are the main cause of early miscarriage. This study aimed to investigate aneuploidy in spontaneous abortion by fluorescence in situ hybridization (FISH) using probes for 13, 16, 18, 21, 22, X and Y chromosomes.
Chan-Wei Jia +10 more
doaj +1 more source
BMC Pregnancy and Childbirth, 2023 Background Aneuploidy pregnancy is a severe major birth defect and causes about 50% spontaneous miscarriages with unknown etiology. To date, only a few epidemiological studies with small sample sizes have investigated the risk factors for aneuploidy ...
Ying Chan +9 more
doaj +1 more source
Environmental and Molecular Mutagenesis, EarlyView.Abstract Quantitative risk assessments of chemicals are routinely performed using in vivo data from rodents; however, there is growing recognition that non‐animal approaches can be human‐relevant alternatives. There is an urgent need to build confidence in non‐animal alternatives given the international support to reduce the use of animals in toxicity ...
Marc A. Beal +14 more
wiley +1 more source
Environmental and Molecular Mutagenesis, EarlyView.Abstract In human health risk assessment of chemicals and pharmaceuticals, identification of genotoxicity hazard usually starts with a standard battery of in vitro genotoxicity tests, which is needed to cover all genotoxicity endpoints. The individual tests included in the battery are not designed to pick up all endpoints.
Mirjam Luijten +15 more
wiley +1 more source
Incidental finding of maternal sex chromosome aneuploidy from DMD carrier screening and single-nucleotide polymorphism (SNP)-based prenatal cell-free DNA screening. [PDF]
J Genet CounsAbstract Prenatal cell‐free DNA (cfDNA) screening and carrier screening (CS) may have incidental findings that have implications for maternal health outside the scope of the test. We investigated outcome information for individuals with both a DMD full gene deletion/duplication on CS and a suspected maternal X chromosome abnormality on SNP‐based ...
Walker J +8 more
europepmc +2 more sources
Drug resistance and treatment failure in leishmaniasis: A 21st century challenge [PDF]
, 2017 Reevaluation of treatment guidelines for Old and New World leishmaniasis is urgently needed on a global basis because treatment failure is an increasing problem.
Alicia Ponte-Sucre +8 more
core +3 more sources
The tolerance of aneuploidy in yeast
Genetical Research, 1970 SUMMARYSingle ascospore cultures from triploids were screened as a potential source of disomic tester stocks for the purpose of genetical mapping of chromosomes in yeast. A high tolerance of aneuploidy was found, and strains disomic for only one chromosome were rare.
Elizabeth M. Parry, Brian S. Cox
openaire +3 more sources