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

11p15 ICR1 Partial Deletions Associated withIGF2/H19DMR Hypomethylation and Silver-Russell Syndrome

(2016) Walid Abi Habib et al.   HUMAN MUTATION

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

(2016) Emma L. Wakeling et al.   Nature Reviews Endocrinology

Emerging role of PLAG1 as a regulator of growth and reproduction

(2015) Almas R Juma et al.   JOURNAL OF ENDOCRINOLOGY

A splicing mutation of the HMGA2 gene is associated with Silver–Russell syndrome phenotype

(2015) Agostina De Crescenzo et al.   JOURNAL OF HUMAN GENETICS

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

Paternally Inherited IGF2 Mutation and Growth Restriction

(2015) Matthias Begemann et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

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

The Architecture of Parent-of-Origin Effects in Mice

(2014) Richard Mott et al.   CELL

Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome

(2014) Walid Abi Habib et al.   HUMAN MOLECULAR GENETICS

Complex Tissue-Specific Epigenotypes in Russell-Silver Syndrome Associated with 11p15 ICR1 Hypomethylation

(2014) Salah Azzi et al.   HUMAN MUTATION

Correlated Expression of HMGA2 and PLAG1 in Thyroid Tumors, Uterine Leiomyomas and Experimental Models

(2014) Markus Klemke et al.   PLoS One

CDKN1Cmutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome

(2013) F Brioude et al.   JOURNAL OF MEDICAL GENETICS

Comparison of the clinical scoring systems in Silver–Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing

(2013) Renuka P Dias et al.   JOURNAL OF MEDICAL GENETICS

Beckwith–Wiedemann and Russell–Silver Syndromes

(2013) Salah Azzi et al.   Current Opinion in Endocrinology Diabetes and Obesity

Cell type and context-specific function of PLAG1 for IGF2 P3 promoter activity

(2012) MONIRA AKHTAR et al.   INTERNATIONAL JOURNAL OF ONCOLOGY

A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci

(2010) Yukinori Okada et al.   HUMAN MOLECULAR GENETICS

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY

A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits

(2009) Yoon Shin Cho et al.   NATURE GENETICS

IGF2: Epigenetic regulation and role in development and disease

(2008) Wendy Chao et al.   CYTOKINE & GROWTH FACTOR REVIEWS

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

Many sequence variants affecting diversity of adult human height

(2008) Daniel F Gudbjartsson et al.   NATURE GENETICS