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

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

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

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

(2014) Salah Azzi et al.   HUMAN MUTATION

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

Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders

(2013) Rebecca L. Poole et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Simultaneous Hyper- and Hypomethylation at Imprinted Loci in a Subset of Patients withGNASEpimutations Underlies a Complex and Different Mechanism of Multilocus Methylation Defect in Pseudohypoparathyroidism Type 1b

(2013) Stéphanie Maupetit-Méhouas et al.   HUMAN MUTATION

Bloom Syndrome in Short Children Born Small for Gestational Age: A Challenging Diagnosis

(2013) Judith S. Renes et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

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

(2013) Tomoko Fuke et al.   PLoS One

Beckwith–Wiedemann and Russell–Silver Syndromes

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

Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination

(2012) Peter E. Clayton et al.   CLINICAL ENDOCRINOLOGY

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

(2012) Sabrina Spengler et al.   JOURNAL OF PEDIATRICS

Phenotypic and genetic analysis of the Silver-Russell syndrome

(2010) Victor Escobar et al.   CLINICAL GENETICS

Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes

(2010) Salah Azzi et al.   HUMAN MUTATION

Epigenotype-phenotype correlations in Silver-Russell syndrome

(2010) E. L. Wakeling et al.   JOURNAL OF MEDICAL GENETICS

Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci

(2009) Salah Azzi et al.   HUMAN MOLECULAR GENETICS

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

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

Broad Clinical Spectrum in Silver-Russell Syndrome and Consequences for Genetic Testing in Growth Retardation

(2009) T. Eggermann et al.   PEDIATRICS

11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report

(2009) Gitte J Almind et al.   Molecular Cytogenetics

The Endocrine Phenotype in Silver-Russell Syndrome Is Defined by the Underlying Epigenetic Alteration

(2008) Gerhard Binder et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

(2008) Nicola Brunetti-Pierri et al.   NATURE GENETICS

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

(2008) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE