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| http://dx.doi.org/10.1136/bjo.2006.108597 | DOI Listing |
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Correction: Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR).
J Assist Reprod Genet
January 2025
Department of Human Genetic, Altamedica, Rome, Italy.
Non-canonical imprinting, manifesting as post-fertilization placenta-specific parent-of-origin dependent methylation, is not conserved in humans.
Hum Mol Genet
January 2025
Biomedical Research Centre, School of Biological Sciences, University of East Anglia, Norwich Research Park, Earlham Road, Norwich NR4 6PN, United Kingdom.
Genomic imprinting is the parent-of-origin dependent monoallelic expression of genes often associated with regions of germline-derived DNA methylation that are maintained as differentially methylated regions (gDMRs) in somatic tissues. This form of epigenetic regulation is highly conserved in mammals and is thought to have co-evolved with placentation. Tissue-specific gDMRs have been identified in human placenta, suggesting that species-specific imprinting dependent on unorthodox epigenetic establishment or maintenance may be more widespread than previously anticipated.
View Article and Find Full Text PDFCell-free fat extract improves embryo development and clinical outcomes in older women with previous in-vitro fertilization failure.
Reprod Biol Endocrinol
January 2025
Department of Obstetrics and Gynecology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.
Background: Preimplantation embryos in vivo are exposed to various growth factors in the female reproductive tract that are absent in in vitro embryo culture media. Cell-free fat extract exerts antioxidant, anti-ageing, and ovarian function-promoting effects. However, its effects on embryo quality are yet to be investigated.
View Article and Find Full Text PDFEndometriosis does not impact aneuploidy rates of products of conception in IVF population.
Sci Rep
January 2025
Centre for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.
It has been debated whether endometriosis (EMS) adversely affects oocyte quality, potentially leading to a higher incidence of genetically unbalanced embryos or other egg factors that affect the developmental potential. In this study, we explored the effects of endometriosis on risk of chromosomally aberrant in miscarried products of conception (POC) after assisted reproductive treatment (ART), including fresh and frozen cycles. Miscarried POCs were collected from EMS patients (N = 102) and non-EMS patients (N = 441).
View Article and Find Full Text PDFLarge-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.
Genet Med Open
October 2024
Department of Clinical and Biomedical Sciences, Medical School, University of Exeter, St Luke's Campus, Exeter, United Kingdom.
Purpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study.
Methods: Individuals in the Deciphering Developmental Disorders study who had a pathogenic/likely pathogenic genotype in the DECIPHER database were selected for inclusion ( = 5010). Clinical notes from regional clinical genetics services notes were reviewed to assess predefined clinical outcomes relating to interventions, prenatal choices, and information provision.
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