NSD1duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

(2015) Surabhi Mulchandani et al.   GENETICS IN MEDICINE

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

(2015) Salah Azzi et al.   JOURNAL OF MEDICAL GENETICS

Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion

(2014) Francesca Novara et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome

(2014) Siv Fokstuen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver–Russell Syndrome-compatible phenotype

(2014) Masayo Kagami et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases

(2014) Yiannis Ioannides et al.   JOURNAL OF MEDICAL GENETICS

Molecular and Clinical Studies in 138 Japanese Patients with Silver-Russell Syndrome

(2013) Tomoko Fuke et al.   PLoS One

Molecular Karyotyping as a Relevant Diagnostic Tool in Children with Growth Retardation with Silver-Russell Features

(2012) Sabrina Spengler et al.   JOURNAL OF PEDIATRICS

Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients

(2009) S. Bruce et al.   JOURNAL OF MEDICAL GENETICS

Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: Modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype

(2008) Sarah T. South et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes

(2008) D Bartholdi et al.   JOURNAL OF MEDICAL GENETICS