New developments in Silver–Russell syndrome and implications for clinical practice

Adult phenotype of Russell-Silver syndrome: A molecular support for Barker-Brenner's theory

(2015) Toshiki Takenouchi et al.   CONGENITAL ANOMALIES

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

(2015) Surabhi Mulchandani et al.   GENETICS IN MEDICINE

Genome-wide methylation analysis in Silver–Russell syndrome patients

(2015) A. R. Prickett et al.   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

Genetic conflict reflected in tissue-specific maps of genomic imprinting in human and mouse

(2015) Tomas Babak et al.   NATURE GENETICS

Paternally Inherited IGF2 Mutation and Growth Restriction

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

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

(2015) Louise E. Docherty et al.   Nature Communications

Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions

(2015) Keiko Matsubara et al.   Clinical Epigenetics

Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care

(2015) Thomas Eggermann et al.   Clinical Epigenetics

A statistical method for single sample analysis of HumanMethylation450 array data: genome-wide methylation analysis of patients with imprinting disorders

(2015) Faisal I Rezwan et al.   Clinical Epigenetics

Adult phenotype of Russell-Silver syndrome: A molecular support for Barker-Brenner's theory

(2015) Toshiki Takenouchi et al.   CONGENITAL ANOMALIES

Allele-specific binding of ZFP57 in the epigenetic regulation of imprinted and non-imprinted monoallelic expression

(2015) Ruslan Strogantsev et al.   GENOME BIOLOGY

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

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

Prevalence and management of gastrointestinal manifestations in Silver–Russell syndrome

(2014) Céline Marsaud et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment

(2014) F. Court et al.   GENOME RESEARCH

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

Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing

(2014) Thomas Eggermann et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

CRISPR-Cas systems for editing, regulating and targeting genomes

(2014) Jeffry D Sander et al.   NATURE BIOTECHNOLOGY

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

Isolated hypermethylation ofGRB10(7p12.2) in a Silver-Russell syndrome patient carrying a 20p13 microdeletion

(2013) T. Eggermann et al.   CLINICAL GENETICS

Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7

(2013) Katariina Hannula-Jouppi et al.   Epigenetics

Epigenetic and genetic alterations of the imprinting disorder Beckwith–Wiedemann syndrome and related disorders

(2013) Hidenobu Soejima et al.   JOURNAL OF HUMAN GENETICS

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

Targeted DNA demethylation and activation of endogenous genes using programmable TALE-TET1 fusion proteins

(2013) Morgan L Maeder et al.   NATURE BIOTECHNOLOGY

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

(2013) Tomoko Fuke et al.   PLoS One

Beckwith Wiedemann imprinting defect found in leucocyte but not buccal DNA in a child born small for gestational age

(2012) Rinki Murphy et al.   BMC Medical Genetics

Increased incidence of aberrant DNA methylation within diverse imprinted gene loci outside of IGF2/H19 in Silver-Russell syndrome

(2012) K Kannenberg et al.   CLINICAL GENETICS

Epigenetic reprogramming of cancer cells via targeted DNA methylation

(2012) Ashley G. Rivenbark et al.   Epigenetics

Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature

(2012) Matthias Begemann et al.   JOURNAL OF MEDICAL GENETICS

The role of imprinted genes in humans

(2012) Miho Ishida et al.   MOLECULAR ASPECTS OF MEDICINE

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

(2012) Valerie A Arboleda et al.   NATURE GENETICS

Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte

(2011) David A. Parry et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver-Russell syndrome features

(2011) T Eggermann et al.   CLINICAL GENETICS

Beckwith–Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques

(2011) Valeria Romanelli et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Prader-Willi syndrome and Angelman syndrome

(2010) Karin Buiting   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Beckwith-Wiedemann syndrome

(2010) Sanaa Choufani et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues

(2010) M Begemann et al.   CLINICAL GENETICS

Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci

(2010) Claire Louise Susan Turner et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Effect of Long-Term Growth Hormone Treatment on Final Height of Children with Russell-Silver Syndrome

(2010) Meropi Toumba et al.   Hormone Research in Paediatrics

Epigenotype-phenotype correlations in Silver-Russell syndrome

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

Silver-Russell syndrome: genetic basis and molecular genetic testing

(2010) Thomas Eggermann et al.   Orphanet Journal of Rare Diseases

Sex-Specific Parent-of-Origin Allelic Expression in the Mouse Brain

(2010) C. Gregg et al.   SCIENCE

Segmental maternal UPD(7q) in Silver-Russell syndrome

(2009) T Eggermann et al.   CLINICAL GENETICS

Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells

(2009) Jet Bliek et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Screening for genomic variants in ZFP57 in Silver-Russell syndrome patients with 11p15 epimutations

(2009) Sabrina Spengler et al.   European 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

Abnormal methylation at the KvDMR1 imprinting control region in clinically normal children conceived by assisted reproductive technologies

(2009) M.V. Gomes et al.   MOLECULAR HUMAN REPRODUCTION

The Nuclear DNA Base 5-Hydroxymethylcytosine Is Present in Purkinje Neurons and the Brain

(2009) S. Kriaucionis et al.   SCIENCE

Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)

(2009) Esther Meyer et al.   PLoS Genetics

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

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

Monozygotic female twins discordant for Silver–Russell syndrome and hypomethylation of the H19-DMR

(2008) Kazuki Yamazawa et al.   JOURNAL OF HUMAN GENETICS

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

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

(2008) Deborah J G Mackay et al.   NATURE GENETICS