Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement …

F Brioude, JM Kalish, A Mussa, AC Foster… - Nat Rev …, 2018 - openaccess.sgul.ac.uk
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is
characterized by phenotypic variability that might include overgrowth, macroglossia …

[HTML][HTML] Oxidative stress and assisted reproduction: a comprehensive review of its pathophysiological role and strategies for optimizing embryo culture environment

A Agarwal, I Maldonado Rosas, C Anagnostopoulou… - Antioxidants, 2022 - mdpi.com
Oxidative stress (OS) due to an imbalance between reactive oxygen species (ROS) and
antioxidants has been established as an important factor that can negatively affect the …

Child health, developmental plasticity, and epigenetic programming

Z Hochberg, R Feil, M Constancia, M Fraga… - Endocrine …, 2011 - academic.oup.com
Plasticity in developmental programming has evolved in order to provide the best chances of
survival and reproductive success to the organism under changing environments …

The H19 locus: Role of an imprinted non‐coding RNA in growth and development

A Gabory, H Jammes, L Dandolo - Bioessays, 2010 - Wiley Online Library
The H19 gene produces a non‐coding RNA, which is abundantly expressed during
embryonic development and down‐regulated after birth. Although this gene was discovered …

[HTML][HTML] Beckwith–wiedemann syndrome

R Weksberg, C Shuman, JB Beckwith - European journal of human …, 2010 - nature.com
Beckwith–Wiedemann syndrome (BWS) is a model disorder for the study of imprinting,
growth dysregulation, and tumorigenesis. Unique observations in this disorder point to an …

[HTML][HTML] Association of four imprinting disorders and ART

H Hattori, H Hiura, A Kitamura, N Miyauchi… - Clinical …, 2019 - Springer
Background Human-assisted reproductive technologies (ART) are a widely accepted
treatment for infertile couples. At the same time, many studies have suggested the …

Influence of environmental exposure on human epigenetic regulation

CJ Marsit - Journal of Experimental Biology, 2015 - journals.biologists.com
Environmental toxicants can alter epigenetic regulatory features such as DNA methylation
and microRNA expression. As the sensitivity of epigenomic regulatory features may be …

Beckwith–Wiedemann syndrome

S Choufani, C Shuman… - American Journal of …, 2010 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder characterized by
overgrowth, tumor predisposition, and congenital malformations. Approximately 85% of …

Role of DNA methylation in imprinting disorders: an updated review

AR Elhamamsy - Journal of Assisted Reproduction and Genetics, 2017 - Springer
Genomic imprinting is a complex epigenetic process that contributes substantially to
embryogenesis, reproduction, and gametogenesis. Only small fraction of genes within the …

GNAS Spectrum of Disorders

S Turan, M Bastepe - Current osteoporosis reports, 2015 - Springer
The GNAS complex locus encodes the alpha-subunit of the stimulatory G protein (Gsα), a
ubiquitous signaling protein mediating the actions of many hormones, neurotransmitters …