Diagnosis and management of Silver–Russell syndrome: first international consensus statement

EL Wakeling, F Brioude, O Lokulo-Sodipe… - Nature Reviews …, 2017 - nature.com
Abstract This Consensus Statement summarizes recommendations for clinical diagnosis,
investigation and management of patients with Silver–Russell syndrome (SRS), an …

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 …

[HTML][HTML] IGF2: Development, Genetic and Epigenetic Abnormalities

C Sélénou, F Brioude, E Giabicani, ML Sobrier… - Cells, 2022 - mdpi.com
In the 30 years since the first report of parental imprinting in insulin-like growth factor 2 (Igf2)
knockout mouse models, we have learnt much about the structure of this protein, its role and …

A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

S Azzi, J Salem, N Thibaud… - Journal of medical …, 2015 - jmg.bmj.com
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 …

Paternally Inherited IGF2 Mutation and Growth Restriction

M Begemann, B Zirn, G Santen… - … England Journal of …, 2015 - Mass Medical Soc
In humans, mutations in IGF1 or IGF1R cause intrauterine and postnatal growth restriction;
however, data on mutations in IGF2, encoding insulin-like growth factor (IGF) II, are lacking …

Imprinting disorders: a group of congenital disorders with overlap** patterns of molecular changes affecting imprinted loci

T Eggermann, G Perez de Nanclares, ER Maher… - Clinical …, 2015 - Springer
Congenital imprinting disorders (IDs) are characterised by molecular changes affecting
imprinted chromosomal regions and genes, ie genes that are expressed in a parent-of-origin …

Mechanisms in endocrinology: novel genetic causes of short stature

JM Wit, W Oostdijk, M Losekoot… - European Journal of …, 2016 - academic.oup.com
The fast technological development, particularly single nucleotide polymorphism array, array-
comparative genomic hybridization, and whole exome sequencing, has led to the discovery …

Genetic evaluation of short stature

A Dauber, RG Rosenfeld… - The Journal of Clinical …, 2014 - academic.oup.com
Context: Genetics plays a major role in determining an individual's height. Although there
are many monogenic disorders that lead to perturbations in growth and result in short …

[HTML][HTML] Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction

W Abi Habib, F Brioude, T Edouard, JT Bennett… - Genetics in …, 2018 - Elsevier
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 …

The role and interaction of imprinted genes in human fetal growth

GE Moore, M Ishida, C Demetriou… - … of the Royal …, 2015 - royalsocietypublishing.org
Identifying the genetic input for fetal growth will help to understand common, serious
complications of pregnancy such as fetal growth restriction. Genomic imprinting is an …