Results 31 to 40 of about 44,045 (236)

Preimplantation Genetic Testing for Monogenic Kidney Disease [PDF]

open access: yes, 2020
Background and objectives: A genetic cause can be identified for an increasing number of pediatric and adult-onset kidney diseases. Preimplantation genetic testing (formerly known as preimplantation genetic diagnostics) is a reproductive technology that ...
Franka van Reekum   +42 more
core   +1 more source

Seminal Fluid Metabolomic Markers of Oligozoospermic Infertility in Humans

open access: yesMetabolites, 2020
Infertility affects 12−15% of couples worldwide, and male factors are the cause of nearly half of all cases. Studying seminal fluid composition could lead to additional diagnostic accuracy and a better understanding of the pathophysiology of male ...
Federica Murgia   +9 more
doaj   +1 more source

Expression Profile of Developmentally Important Genes in preand peri-Implantation Goat Embryos Produced In Vitro [PDF]

open access: yesInternational Journal of Fertility and Sterility, 2016
Background: Little is understood about the regulation of gene expression during early goat embryo development. This study investigated the expression profile of 19 genes, known to be critical for early embryo development in mouse and human, at five ...
Pouria HosseinNia   +6 more
doaj   +1 more source

Metabolomics Analysis of Amniotic Fluid in Euploid Foetuses with Thickened Nuchal Translucency by Gas Chromatography-Mass Spectrometry

open access: yesLife, 2021
Persistence of a fetal thickened nuchal translucency (NT), one of the most sensitive and specific individual markers of fetal disorders, is strongly correlated with the possibility of a genetic syndrome, congenital infections, or other malformations ...
Federica Murgia   +7 more
doaj   +1 more source

MERVL/Zscan4 Network Activation Results in Transient Genome-wide DNA Demethylation of mESCs

open access: yesCell Reports, 2016
Mouse embryonic stem cells are dynamic and heterogeneous. For example, rare cells cycle through a state characterized by decondensed chromatin and expression of transcripts, including the Zscan4 cluster and MERVL endogenous retrovirus, which are usually ...
Mélanie A. Eckersley-Maslin   +12 more
doaj   +1 more source

PREIMPLANTATION GENETIC TESTING: Clinical experience of preimplantation genetic testing [PDF]

open access: yesReproduction, 2020
Abstract Thirty years of rapid technological advances in the field of genetic testing and assisted reproduction have reshaped the procedure of preimplantation genetic testing (PGT). The development of whole genome amplification and genome-wide testing tools together with the implementation of optimal hormonal stimulation protocols and
Martine, De Rycke   +6 more
openaire   +2 more sources

Clinical Applications of Preimplantation Genetic Testing in Equine, Bovine, and Human Embryos [PDF]

open access: yes, 2016
The use of preimplantation genetic testing (PGT) in reproductive medicine and animal production has increased significantly in the last few years. Preimplantation genetic testing starts with the collection of a few cells from the embryo and continues ...
Herrera, Carolina
core   +1 more source

NICE: A Two‐Step Non‐Invasive Framework for Embryo cfDNA Read Enrichment and Quality Assessment

open access: yesAdvanced Science, EarlyView.
The non‐invasive NICE framework, built on an ensemble stacking machine learning model, prioritizes embryos by analyzing cell‐free DNA from spent culture medium. By integrating multimodal signals, including genomic and epigenetic profiles, this automated approach standardizes morphological assessment without human bias, paving the way for more precise ...
Xueya Zhou   +6 more
wiley   +1 more source

Temporal Evaluation of a Minimally Invasive Method of Preimplantation Genetic Testing for Aneuploidy (mi-PGT-A) in Human Embryos

open access: yesReproductive Medicine
Preimplantation genetic testing for aneuploidy (PGT-A) has become a useful approach for embryo selection following IVF and ICSI. However, the biopsy process associated with PGT-A is expensive, prone to errors in embryo ploidy determination, and ...
Katharine R. B. Phillips   +8 more
doaj   +1 more source

Transcriptome profiling of human pre-implantation development. [PDF]

open access: yesPLoS ONE, 2009
BACKGROUND: Preimplantation development is a crucial step in early human development. However, the molecular basis of human preimplantation development is not well known.
Pu Zhang   +9 more
doaj   +1 more source

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