Genomic imprinting disorders: lessons on how genome, epigenome and environment interact
Genomic imprinting, the monoallelic and parent-of-origin-dependent expression of a subset
of genes, is required for normal development, and its disruption leads to human disease …
of genes, is required for normal development, and its disruption leads to human disease …
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement …
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is
characterized by phenotypic variability that might include overgrowth, macroglossia …
characterized by phenotypic variability that might include overgrowth, macroglossia …
[HTML][HTML] Diagnosis and management of Beckwith-Wiedemann syndrome
KH Wang, J Kupa, KA Duffy, JM Kalish - Frontiers in pediatrics, 2020 - frontiersin.org
Beckwith-Wiedemann syndrome (BWS) is a human genomic imprinting disorder that
presents with a wide spectrum of clinical features including overgrowth, abdominal wall …
presents with a wide spectrum of clinical features including overgrowth, abdominal wall …
[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 …
treatment for infertile couples. At the same time, many studies have suggested the …
In-utero stress and mode of conception: impact on regulation of imprinted genes, fetal development and future health
M Argyraki, P Damdimopoulou… - Human reproduction …, 2019 - academic.oup.com
BACKGROUND Genomic imprinting is an epigenetic gene regulatory mechanism; disruption
of this process during early embryonic development can have major consequences on both …
of this process during early embryonic development can have major consequences on both …
[HTML][HTML] Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
Abstract Beckwith–Wiedemann syndrome (BWS), a human genomic imprinting disorder, is
characterized by phenotypic variability that might include overgrowth, macroglossia …
characterized by phenotypic variability that might include overgrowth, macroglossia …
[HTML][HTML] In Vitro fertilization technology and child health: risks, mechanisms and possible consequences
M Von Wolff, T Haaf - Deutsches Ärzteblatt International, 2020 - ncbi.nlm.nih.gov
Background Just under 3% of children in Germany, and approximately 6% of children in
some other countries, such as Denmark, are now being conceived with the aid of in vitro …
some other countries, such as Denmark, are now being conceived with the aid of in vitro …
Overgrowth syndromes—clinical and molecular aspects and tumour risk
F Brioude, A Toutain, E Giabicani, E Cottereau… - Nature Reviews …, 2019 - nature.com
Overgrowth syndromes are a heterogeneous group of rare disorders characterized by
generalized or segmental excessive growth commonly associated with additional features …
generalized or segmental excessive growth commonly associated with additional features …
Characterization of the Beckwith‐Wiedemann spectrum: Diagnosis and management
KA Duffy, CM Cielo, JL Cohen… - American Journal of …, 2019 - Wiley Online Library
Beckwith‐Wiedemann syndrome (BWS) is the most common epigenetic overgrowth and
cancer predisposition disorder. Due to both varying molecular defects involving …
cancer predisposition disorder. Due to both varying molecular defects involving …
[HTML][HTML] Idiopathic male infertility is strongly associated with aberrant DNA methylation of imprinted loci in sperm: a case-control study
Q Tang, F Pan, J Yang, Z Fu, Y Lu, X Wu, X Han… - Clinical …, 2018 - Springer
Background Male infertility is a complex disease caused by a combination of genetic,
environmental, and lifestyle factors. Abnormal epigenetic programming has been proposed …
environmental, and lifestyle factors. Abnormal epigenetic programming has been proposed …