Results 51 to 60 of about 55,696 (242)

In Silico Fragment Size Selection for Enhanced Fetal Fraction and Abnormality Origin Discernment Using Pair‐End Sequencing of Maternal Plasma DNA

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
This study presents a new bioinformatics pipeline for noninvasive prenatal testing (NIPT) that filters DNA fragments to significantly improve the fetal DNA fraction. This enhanced method successfully analyzed samples previously rejected for low fetal fraction and could distinguish between fetal and maternal chromosomal abnormalities.
Lihui Yang   +11 more
wiley   +1 more source

Aneuploidy: cells losing their balance

open access: yes, 2008
A change in chromosome number that is not the exact multiple of the haploid karyotype is known as aneuploidy. This condition interferes with growth and development of an organism and is a common characteristic of solid tumors. Here, we review the history
Torres, Eduardo Miguel   +2 more
core   +1 more source

Implementation and Performance of First‐Trimester Referral Ultrasound Scan Following the Introduction of National Guidelines

open access: yesJournal of Clinical Ultrasound, EarlyView.
The expert assessment of fetal anatomy before 14 weeks is feasible when adopting a standardized protocol and allows an early diagnosis in most cases at risk for fetal anomaly following first trimester screening ultrasound. ABSTRACT Background To report the implementation across Fetal Medicine units and the agreement between first and second trimester ...
Grazia Volpe   +11 more
wiley   +1 more source

Fetal Heart Rate at 12 Weeks' Gestation and the Risk of Preterm Birth

open access: yesJournal of Ultrasound in Medicine, EarlyView.
Objectives To prospectively validate the association between fetal heart rate (FHR) at the 12‐week scan and the risk of preterm birth (PTB), including spontaneous preterm birth (sPTB). Methods This prospective cohort study included 1276 singleton pregnancies undergoing routine first‐trimester screening at 11–13 + 6 weeks' gestation and followed until ...
José Morales‐Roselló   +3 more
wiley   +1 more source

Aneuploidy in the Transgenic Rabbit

open access: yesFolia Biologica, 2004
The aim of this study was to determine whether there are differences in the karyotypes between transgenic and non-transgenic or control rabbits. New Zealand White transgenic rabbits (F1 generation) were obtained after breeding of transgenic founder rabbits that were derived from single ñ SM ñ or double microinjection DM with a
V, Parkányi   +8 more
openaire   +2 more sources

Genetic Normalization of Differentiating Aneuploid Human Embryos

open access: yes, 2011
Early embryogenesis involves a series of dynamic processes, many of which are currently not well described or understood. Aneuploidy and aneuploid mosaicism, a mixture of aneuploid and euploid cells within one embryo, in early embryonic development are ...
Paul Brezina   +8 more
core  

Aneuploidy: Cancer strength or vulnerability? [PDF]

open access: yes, 2019
Aneuploidy is a very rare and tissue-specific event in normal conditions, occurring in a low number of brain and liver cells. Its frequency increases in age-related disorders and is one of the hallmarks of cancer.
Martinelli G.   +4 more
core   +1 more source

Feasibility and Reproducibility of a Structure‐Guided Deep Learning Model for Automatic Detection of the Standard Sagittal Plane in First‐Trimester Nuchal Translucency Assessment Using 3D Ultrasound

open access: yesJournal of Ultrasound in Medicine, EarlyView.
Objectives Accurate nuchal translucency (NT) measurement for assessing the risk of fetal genetic abnormalities requires precise acquisition of the mid‐sagittal plane (MSP). However, achieving an appropriate MSP is technically challenging due to anatomical variability and operator dependence inherent in conventional 2‐dimensional (2D) ultrasound.
Hayan Kwon   +5 more
wiley   +1 more source

A transient protoplast expression system for functional gene validation in sugarcane: Focus on drought response and immune pathways

open access: yesNew Plant Protection, EarlyView.
We developed a transient expression system for sugarcane using Guitang 42 culm, suitable for various assays such as GCaMP6‐based calcium imaging. This system revealed that ScNCED3 acts as an early drought response signal, positively regulated by ScPYL4‐12, ScOST1‐12, and ScMPK6‐11.
Dianqi Wu   +10 more
wiley   +1 more source

Mosaic variegated aneuploidy syndrome [PDF]

open access: yes, 2012
Review on Mosaic variegated aneuploidy syndrome, with data on clinics, and the genes ...
Snape, K, Rahman, N, Hanks, S
core   +1 more source

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