• <em>CDKN1C</em> gene mutation causing familial Silver-Russell syndrome: A case report and review of literature
• <em>CDKN1C</em> hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited <em>KCNQ1OT1</em>:TSS-DMR
• <em>IGF2</em>: Development, Genetic and Epigenetic Abnormalities
• 11p13 microduplication: a differential diagnosis of Silver-Russell syndrome?
• A 132 bp deletion affecting the <em>KCNQ1OT1</em> gene associated with Silver-Russell syndrome clinical phenotype
• A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype
• A 79-kb paternally inherited 7q32.2 microdeletion involving MEST in a patient with a Silver-Russell syndrome-like phenotype
• A case of MBTPS1-related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype-phenotype expansion and the emergence of a novel syndrome
• A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features
• A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith-Wiedemann and Temple syndromes
• A supervised learning method for classifying methylation disorders
• A variant of uncertain significance of the HMGA2 gene in a child with Silver-Russell syndrome-like phenotype: a case report
• Action Induced Myoclonus in a 11-Year-Old Boy with Silver-Russell Syndrome
• An Unusual Association: Silver-Russell Syndrome and Ectopic Thyroid
• Anesthesia experience in an adult Silver-Russell syndrome: a case report
• Approach to the patient with suspected Silver-Russell syndrome
• Body composition and metabolism in adults with molecularly-confirmed Silver-Russell syndrome
• Case report: A novel <em>de novo IGF2</em> missense variant in a Finnish patient with Silver-Russell syndrome
• Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome
• Case report: a typical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum
• Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum
• Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant
• Case Report: Recombinant human growth hormone therapy in a patient with spondyloepiphyseal dysplasia, Kondo-Fu type
• Case Studies of Two Classical Imprinting Growth Disorders: Silver-Russell and Beckwith-Wiedemann Syndromes
• CDKN1C gene mutation causing familial Silver-Russell syndrome: A case report and review of literature
• Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome
• Clinical and Molecular Heterogeneity of Silver-Russell Syndrome and Therapeutic Challenges: A Systematic Review
• Clinical characterization of PLAG1- related Silver-Russell syndrome:A clinical report
• Computer-aided facial analysis as a tool to identify patients with Silver-Russell syndrome and Prader-Willi syndrome
• Congenital absence of the bilateral long heads of the biceps brachii tendons in a patient with Silver-Russell syndrome
• Corrigendum: Pubertal timing in children with Silver Russell syndrome compared to those born small for gestational age
• Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities
• Deep Brain Stimulation for an Unusual Presentation of Myoclonus Dystonia Associated with Russell-Silver Syndrome
• Dental pulp stem cells as a promising model to study imprinting diseases
• Detection of 4p16.3 deletion and 11p15.5p15.4 gain in a boy by comparative genomic hybridization array: A case report
• Diagnostics and follow-up strategy for Silver-Russell syndrome based on a case report showing familial accumulation
• Diagnostics and follow-up strategy for Silver–Russell syndrome based on a case report showing familial accumulation
• Different Mechanisms Cause Hypomethylation of Both <em>H19</em> and <em>KCNQ1OT1</em> Imprinted Differentially Methylated Regions in Two Cases of Silver-Russell Syndrome Spectrum
• Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver-Russell Syndrome Spectrum
• Dyke-Davidoff-Masson Syndrome as a Rare Cause of Cerebral Hemiatrophy: Insights From a Case Series
• Dysregulated <em>H19/Igf2</em> expression disrupts cardiac-placental axis during development of Silver-Russell syndrome-like mouse models
• Dysregulated H19/Igf2 expression disrupts cardiac-placental axis during development of Silver-Russell syndrome-like mouse models
• Efficient generation of epigenetic disease model mice by epigenome editing using the piggyBac transposon system
• Emerging phenotypes linked to variants in <em>SAMD9</em> and MIRAGE syndrome
• Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome
• Epigenetic Mechanisms of ART-Related Imprinting Disorders: Lessons From iPSC and Mouse Models
• Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver-Russell Syndrome
• Erratum: Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum
• Establishment of paternal methylation imprint at the <em>H19/Igf2</em> imprinting control region
• Executive functioning in adolescents and adults with Silver-Russell syndrome
• First Report of a Derivative Chromosome 13 with a Duplicated 11p15 Locus Associated with Silver-Russell Syndrome
• First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
• First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions
• Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system
• Growth response of syndromic versus non-syndromic children born small for gestational age (SGA) to growth hormone therapy: a Belgian study
• Height and body mass index in molecularly confirmed Silver-Russell syndrome and the long-term effects of growth hormone treatment
• High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight
• Idiopathic ketotic hypoglycemia in children : An update
• Idiopathic ketotic hypoglycemia in children: an update
• Imprinting disorders in children conceived with assisted reproductive technology in Sweden
• Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?
• Locus-Specific and Stable DNA Demethylation at the <em>H19</em>/<em>IGF2</em> ICR1 by Epigenome Editing Using a dCas9-SunTag System and the Catalytic Domain of TET1
• Maintenance of methylation profile in imprinting control regions in human induced pluripotent stem cells
• Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome
• Maternally inherited autosomal dominant PLAG-1 related Silver Russell syndrome in a fetus with intra-uterine growth restriction
• Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes
• Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach
• Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability
• Ongoing Challenges in the Diagnosis of 11p15.5-Associated Imprinting Disorders
• Orthodontic management of patient with Silver-Russell Syndrome (SRS). A case report
• Pathogenic Copy Number and Sequence Variants in Children Born SGA With Short Stature Without Imprinting Disorders
• Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver-Russell syndrome: case reports and literature review
• Perinatal features of children with Silver-Russell syndrome due to 11p15 loss of methylation
• Prenatal diagnosis of Silver-Russell syndrome with 8q12 deletion including the PLAG1 gene: a case report and review
• Prenatal Silver-Russell Syndrome in a Chinese Family Identified by Non-Invasive Prenatal Testing
• Presentation of clinical features of Silver-Russel-like syndrome caused by 9.9 Mbp deletion 8q11.21-q12.1: the first Polish case
• Proteinuria and Renal Dysfunction Due to Extremely Low Birth Weight in a Patient with Silver-Russell Syndrome
• Pubertal timing in children with Silver Russell syndrome compared to those born small for gestational age
• Quality of life and mental health of adolescents and adults with Silver-Russell syndrome
• Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Silver-Russell Syndrome
• Short Stature Syndromes: Case Series from India
• Silver-Russell syndrome and Turner syndrome in a girl with short stature treated with growth hormone - case report
• Silver-Russell syndrome associated with type-I Chiari malformation. A case report
• Silver-Russell syndrome caused by trisomy 11p15.5 due to a derivative X chromosome from a de novo t(X;11) in a Mexican female patient
• Silver-Russell syndrome-like features in a child with recombinant chromosome 11 derived from maternal pericentric inversion
• TANDEM TRIPLICATION 11p15.5-ICR1 (H19/IGF2) DETECTED BY ARRAY AND OPTICAL GENOME MAPPING IN A PRENATAL BECWITH-WIEDEMANN CASE
• Tandem Triplication 11p15.5-ICR1 (H19/IGF2) Detected by Microarray and Optical Genome Mapping in a Prenatal Beckwith-Wiedemann Case
• Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients
• The effects of 3-year growth hormone treatment and body composition in Polish patients with Silver-Russell syndrome
• The Effects of 5 Years of Growth Hormone Treatment on Growth and Body Composition in Patients with Temple Syndrome
• The experience of diagnosis announcement in rare endocrine diseases: A survey of the French FIRENDO network
• The FASD Eye Code: a complementary diagnostic tool in fetal alcohol spectrum disorders
• The Genetic Landscape of Children Born Small for Gestational Age with Persistent Short Stature
• The genetic landscape of children born small for gestational age with persistent short stature (SGA-SS)
• The Methylation Status in the Chromosome 11p15.5 Region and Metabolic Disorders in Children with Syndromic and Nonsyndromic Intrauterine Growth Restriction
• To increase body height and muscle strength - one medicine for two diseases? Case report of a boy with Silver-Russell syndrome and Duchenne muscular dystrophy
• Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences
• Uncovering the phenotypic consequences of multi-locus imprinting disturbances using genome-wide methylation analysis in genomic imprinting disorders
• Unusual association of torticollis with Russell-Silver syndrome
• Usefulness of the MS-MLPA technique in the diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome