Sequential application of copy number variation sequencing and quantitative fluorescence polymerase chain reaction in genetic analysis of miscarriage and stillbirth.
Sign Up to like & getrecommendations! Published in 2023 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.2187
Abstract: BACKGROUND Copy number variation sequencing (CNV-seq) could detect most chromosomal abnormalities except polyploidy, and quantitative fluorescence polymerase chain reaction (QF-PCR) is a supplementary method to CNV-seq in triploid detection. This study aimed to evaluate the… read more here.
Keywords: chromosomal abnormalities; cnv seq; seq; analysis ... See more keywords
Time-Lapse Imaging for the Detection of Chromosomal Abnormalities in Primate Preimplantation Embryos.
Sign Up to like & getrecommendations! Published in 2018 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-7780-2_19
Abstract: The use of time-lapse microscopic imaging has proven to be a powerful tool for the study of mitotic divisions and other cellular processes across diverse species and cell types. Although time-lapse monitoring (TLM) of human… read more here.
Keywords: embryos; time; preimplantation; chromosomal abnormalities ... See more keywords
Chromosomal abnormalities of 19,000 couples with recurrent spontaneous abortions: a multicenter study.
Sign Up to like & getrecommendations! Published in 2022 at "Fertility and sterility"
DOI: 10.1016/j.fertnstert.2022.01.011
Abstract: OBJECTIVE To investigate the demographic data and karyotypes of 19,000 couples who experienced recurrent spontaneous abortion (RSA). DESIGN A cross-sectional study of 19,000 couples. SETTING Five hospitals. PATIENT(S) A total of 19,000 couples experiencing RSA.… read more here.
Keywords: age; study; chromosomal abnormalities; chromosomal aberrations ... See more keywords
Prevalence of common aneuploidy in twin pregnancies
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DOI: 10.1038/s10038-021-01001-0
Abstract: The incidence of chromosomal abnormalities in twin pregnancies is not well-studied. In this retrospective study, we investigated the frequency of chromosomal abnormalities in twin pregnancies and compared the incidence of chromosomal abnormalities in dichorionic diamniotic… read more here.
Keywords: chromosomal abnormalities; incidence chromosomal; twin pregnancies; incidence ... See more keywords
Clinical course of autologous recovery with chromosomal abnormalities after allogeneic hematopoietic stem cell transplantation
Sign Up to like & getrecommendations! Published in 2019 at "Bone Marrow Transplantation"
DOI: 10.1038/s41409-019-0765-0
Abstract: After primary graft failure following allogeneic hematopoietic stem cell transplantation, some patients experience autologous recovery of hematopoiesis without salvage transplantation. However, clinicians occasionally encounter unusual chromosomal abnormalities in recipient cells, not related to the original… read more here.
Keywords: chromosomal abnormalities; transplantation; cell transplantation; autologous recovery ... See more keywords
Perinatal outcomes of pregnancies with prenatally diagnosed foetal congenital heart disease
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Obstetrics and Gynaecology"
DOI: 10.1080/01443615.2021.2000944
Abstract: Abstract We aimed to assess the types of prenatally diagnosed congenital heart disease (CHD) and their association with structural and chromosomal abnormalities and to evaluate the perinatal outcomes according to the type of the heart… read more here.
Keywords: chromosomal abnormalities; prenatally diagnosed; congenital heart; heart ... See more keywords
The most relevant chromosomal abnormalities in the north of Rio Grande do Sul, Brazil: 26 years of cytogenetic analysis
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Human Biology"
DOI: 10.1080/03014460.2019.1586995
Abstract: Abstract From 1992 to 2018, cytogenetic analyses were successfully performed to explore the chromosomal abnormalities of 729 patients, who utilised a pioneering counselling service in the city of Passo Fundo in the northern part of… read more here.
Keywords: cytogenetic analysis; chromosomal abnormalities; grande sul; rio grande ... See more keywords
Morphological and chromosomal abnormalities in gamma radiation-induced mutagenized faba bean genotypes
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DOI: 10.1080/09553002.2018.1409913
Abstract: Abstract Purpose: This study was conducted to evaluate and compare the influence of gamma radiations on morphological and chromosomal abnormalities in twenty mutagenized faba bean populations, representing first and second generations (M1 and M2) of… read more here.
Keywords: faba bean; chromosomal abnormalities; morphological chromosomal; bean genotypes ... See more keywords
Sex chromosome changes in leukemia: cytogenetics and molecular aspects
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DOI: 10.1080/10245332.2017.1375063
Abstract: ABSTRACT Background and objective: Sex chromosome loss (SCL) can occur in older men as a physiological phenomenon or as an acquired abnormality in leukemia. Loss of chromosome Y and loss of chromosome X are acquired… read more here.
Keywords: sex chromosome; leukemia cytogenetics; chromosomal abnormalities; sex ... See more keywords
On the origins and fate of chromosomal abnormalities in human preimplantation embryos: an unsolved riddle.
Sign Up to like & getrecommendations! Published in 2022 at "Molecular human reproduction"
DOI: 10.1093/molehr/gaac011
Abstract: About 8 out of 10 human embryos obtained in vitro harbour chromosomal abnormalities of either meiotic or mitotic origin. Abnormalities of mitotic origin lead to chromosomal mosaicism, a phenomenon which has sparked much debate lately… read more here.
Keywords: fate chromosomal; origins fate; abnormalities human; embryos ... See more keywords
Hidradenitis suppurativa and chromosomal abnormalities: a case report and systematic review of the literature
Sign Up to like & getrecommendations! Published in 2021 at "International Journal of Dermatology"
DOI: 10.1111/ijd.15111
Abstract: Hidradenitis suppurativa (HS) is a chronic inflammatory follicular disorder that involves painful nodules, abscesses, and tunnels of intertriginous sites. Although the etiology has not been fully elucidated, recent studies have highlighted its association with chromosomal… read more here.
Keywords: association; chromosomal abnormalities; hidradenitis suppurativa; case ... See more keywords