Results 61 to 70 of about 50,865 (308)
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
Pedigree reconstruction for triploid apple cultivars using single nucleotide polymorphism array data
PLANTS, PEOPLE, PLANET, Volume 5, Issue 1, Page 98-111, January 2023., 2023 Many economically, culturally, and historically important apple cultivars are triploids, which have three copies of each chromosome instead of the more typical two copies in diploids. Despite their prevalence and importance, there have been conflicting reports regarding their origin and their ability to beget diploids.
Nicholas P. Howard +7 more
wiley +1 more source
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
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson +10 more
wiley +1 more source
Dysregulation of gene expression in the artificial human trisomy cells of chromosome 8 associated with transformed cell phenotypes. [PDF]
PLoS ONE, 2011 A change in chromosome number, known as aneuploidy, is a common characteristic of cancer. Aneuploidy disrupts gene expression in human cancer cells and immortalized human epithelial cells, but not in normal human cells.
Hisakatsu Nawata +7 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Individuals with an extra X or Y chromosome (sex chromosome trisomy or SCT) have an increased risk for symptoms of psychopathology and neurocognitive dysfunction. In this study, we evaluated the contribution of family history (FH) of neuropsychiatric or neurocognitive disorders to the phenotype of SCT. One hundred and six children with SCT and
Sophie van Rijn +2 more
wiley +1 more source
Preimplantation genetic testing for aneuploidy in uterus transplant patients
Therapeutic Advances in Reproductive Health, 2021 Uterus transplantation is an emerging treatment for uterine factor infertility. In vitro fertilization with cryopreservation of embryos prior is required before a patient can be listed for transplant.
Rhea Chattopadhyay +3 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Prenatal and neonatal presentations of multiple congenital anomalies are difficult to diagnose and are associated with an increased risk of lethality. The differential diagnosis of antenatal presentations of radial ray malformations includes Fanconi anemia (FA), an inherited bone marrow failure disorder associated with congenital anomalies in ...
Ethan M. Scott +5 more
wiley +1 more source
Molecular Cytogenetics, 2018 Background In the past 15 years, impressive progress has been made to understand the molecular mechanism behind aneuploidy, largely due to the effort of using various -omics approaches to study model systems (e.g.
Christine J. Ye +4 more
doaj +1 more source
The genetic basis of aneuploidy tolerance in wild yeast
eLife, 2020 Aneuploidy is highly detrimental during development yet common in cancers and pathogenic fungi – what gives rise to differences in aneuploidy tolerance remains unclear.
James Hose +8 more
doaj +1 more source