Abstract This Consensus Statement summarizes recommendations for clinical diagnosis,
investigation and management of patients with Silver–Russell syndrome (SRS), an …

Several types of epigenetic marks facilitate the complex patterning required for normal
human development. These epigenetic marks include DNA methylation at CpG …

Background Multiple clinical scoring systems have been proposed for Silver-Russell
syndrome (SRS). Here we aimed to test a clinical scoring system for SRS and to analyse the …

Analyses of the international human genome sequencing results in 2004 converged to a
consensual number of~ 20 000 protein‐coding genes, spanning over< 2% of the total …

Purpose Fetal growth is a complex process involving maternal, placental and fetal factors.
The etiology of fetal growth retardation remains unknown in many cases. The aim of this …

Genomic imprinting plays an important role in mammalian development. Loss of imprinting
(LOI) through loss (LOM) or gain (GOM) of methylation is involved in many human disorders …

Beckwith-Wiedemann syndrome (BWS) is a human loss-of-imprinting syndrome primarily
characterized by macrosomia, macroglossia, and abdominal wall defects. BWS has been …

Increasing evidence has indicated that long non-coding RNAs (lncRNAs) are implicated in
and associated with many complex human diseases. Despite of the accumulation of lncRNA …

Dysregulation of the WNT and insulin-like growth factor 2 (IGF2) signaling pathways has
been implicated in sporadic and syndromic forms of adrenocortical carcinoma (ACC) …

Background Silver–Russell syndrome (SRS) is characterised by intrauterine growth
restriction, poor postnatal growth, relative macrocephaly, triangular face and asymmetry …