Results 31 to 40 of about 58,461 (159)

Serum biochemical parameters in pregnant women with and without fetal chromosomal abnornalities

open access: yesФундаментальная и клиническая медицина, 2022
Aim. To analyse the levels of serum beta-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein A (PAPP-A) in pregnant women without fetal chromosomal abnormalities and with fetal trisomy 21 (Down syndrome) or 18 (Edwards syndrome ...
A. N. Volkov   +4 more
doaj   +1 more source

mSphere of Influence: Considering Complex Mutational Processes That Shape Microbial Virulence

open access: yesmSphere, 2019
Matt Anderson works in the field of genetics and infectious disease, with a focus on the human fungal pathogen Candida albicans. In this mSphere of Influence article, he reflects on how two papers, “Gene Flow Contributes to Diversification of the Major ...
Matthew Zack Anderson
doaj   +1 more source

Innovative Application of a Microlaryngeal Surgery Tube for difficult Airway Management in a Case of Down’s Syndrome [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2016
An 11-year-old male child, known case of down’s syndrome with congenital oesophageal stricture was posted for oesophageal dilatation. Preoperative airway assessment revealed a high arched palate, receding mandible and Mallampati Score of 2.
Michell Gulabani   +4 more
doaj   +1 more source

Two Cases of Chromosome 27 Trisomy in Horses Detected Using Illumina BeadChip Genotyping

open access: yesAnimals
Autosomal trisomy, a genetic disorder characterized by the presence of an extra autosome, is a rare but important chromosomal abnormality in horses, often associated with infertility, developmental abnormalities, and reduced life expectancy.
Cliona A. Ryan   +6 more
doaj   +1 more source

Chromosomal aberrations as etiological factors of intrauterine growth retardation [PDF]

open access: yesVojnosanitetski Pregled, 2008
Background/Aim. Intrauterine growth retardation (IUGR) is a pathological condition of pregnancy characterised by birth weight below the 10th centile. A number of fetal, placental and maternal causes can lead to IUGR; although, in most cases no specific ...
Petrović Bojana   +2 more
doaj   +1 more source

Testicular cancer in Down syndrome with spinal cord metastases

open access: yesUrology Annals, 2016
A 22-year-old male patient with Down syndrome was referred to our hospital with a vast left testicular mass. He underwent a left radical inguinal orchiectomy, and a histopathological examination of the mass showed a yolk sac tumor invading the epididymis.
Turky Almouhissen   +4 more
doaj   +1 more source

Role of 3-Mercaptopyruvate Sulfurtransferase in the Regulation of Proliferation and Cellular Bioenergetics in Human Down Syndrome Fibroblasts

open access: yesBiomolecules, 2020
Down syndrome (trisomy of human chromosome 21) is a common genetic disorder. Overproduction of the gaseous mediator hydrogen sulfide (H2S) has been implicated in the pathogenesis of neurological and metabolic deficits associated with Down syndrome ...
Theodora Panagaki   +2 more
doaj   +1 more source

Chromosomal Abnormalities in Miscarriages and Maternal Age: New Insights from the Study of 7118 Cases

open access: yesCells
Chromosomal abnormalities of the embryo are the most common cause of first-trimester pregnancy loss. In this single-center study, we assessed the frequency and the spectrum of chromosomal abnormalities in miscarriages for each year of maternal age from ...
Anna A. Pendina   +12 more
doaj   +1 more source

The association between IVF and chromosomal abnormalities compared to spontaneous conception

open access: yesJournal of Biochemical and Clinical Genetics, 2021
In vitro fertilization (IVF) is a process by which an egg is extracted by needle aspiration and then combined with a sperm so that fertilization can occur outside the body. Genetic defects, such as chromosomal abnormalities, are considered rare among the
Sawsan Alharthi   +5 more
doaj   +1 more source

Trisomy 21 and Down syndrome: a short review

open access: yesBrazilian Journal of Biology
Even though the molecular mechanisms underlying the Down syndrome (DS) phenotypes remain obscure, the characterization of the genes and conserved non-genic sequences of HSA21 together with large-scale gene expression studies in DS tissues are enhancing ...
CA. Sommer, F. Henrique-Silva
doaj   +1 more source

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