[HTML][HTML] Genomic imprinting disorders: lessons on how genome, epigenome and environment interact

D Monk, DJG Mackay, T Eggermann, ER Maher… - Nature Reviews …, 2019 - nature.com
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 …

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 …

Children born small for gestational age: differential diagnosis, molecular genetic evaluation, and implications

MJJ Finken, M van der Steen, CCJ Smeets… - Endocrine …, 2018 - academic.oup.com
Children born small for gestational age (SGA), defined as a birth weight and/or length
below− 2 SD score (SDS), comprise a heterogeneous group. The causes of SGA are …

International consensus guideline on small for gestational age: etiology and management from infancy to early adulthood

ACS Hokken-Koelega, M van der Steen… - Endocrine …, 2023 - academic.oup.com
Abstract This International Consensus Guideline was developed by experts in the field of
small for gestational age (SGA) of 10 pediatric endocrine societies worldwide. A consensus …

[图书][B] RNA, the epicenter of genetic information

J Mattick, P Amaral - 2023 - library.oapen.org
The origin story and emergence of molecular biology is muddled. The early triumphs in
bacterial genetics and the complexity of animal and plant genomes complicate an intricate …

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

M Begemann, FI Rezwan, J Beygo… - Journal of Medical …, 2018 - jmg.bmj.com
Background Genomic imprinting results from the resistance of germline epigenetic marks to
reprogramming in the early embryo for a small number of mammalian genes. Genetic …

[HTML][HTML] Insights into imprinting from parent-of-origin phased methylomes and transcriptomes

F Zink, DN Magnusdottir, OT Magnusson, NJ Walker… - Nature …, 2018 - nature.com
Imprinting is the preferential expression of one parental allele over the other. It is controlled
primarily through differential methylation of cytosine at CpG dinucleotides. Here we combine …

Genomic diagnosis for pediatric disorders: revolution and evolution

E Lalonde, S Rentas, F Lin, MC Dulik… - Frontiers in …, 2020 - frontiersin.org
Powerful, recent advances in technologies to analyze the genome have had a profound
impact on the practice of medical genetics, both in the laboratory and in the clinic. Increasing …

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 …

Recent advances in imprinting disorders

L Soellner, M Begemann, DJG Mackay… - Clinical …, 2017 - Wiley Online Library
Imprinting disorders (ImpDis) are a group of currently 12 congenital diseases with common
underlying (epi) genetic etiologies and overlapping clinical features affecting growth …