Automated bone age assessment in rare pediatric growth disorders: a comparative study using Deeplasia.

A novel CEP57 gene mutation in mosaic variegated aneuploidy syndrome 2: case report.

Assessment of combined growth hormone and gonadotropin-releasing hormone analogue treatment in children with Silver-Russell syndrome.

Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype-Phenotype Correlation.

Gastrointestinal symptoms and quality of life in adults with Silver-Russell syndrome: a cross-sectional study.

Germline epigenome editing identifies H3K9me3 as a mediator of intergenerational DNA methylation recovery in mice.

Silver-Russell syndrome secondary to rare (epi)genotypes exhibits phenotypic heterogeneity challenging clinical diagnosis.

PEG10 loss of function causes Silver-Russell syndrome: a familial case with paternal deletion.

EndoCompass Project: Research Roadmap for Growth Disorders.

Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome.

Investigation of methylation profiles in Silver-Russell syndrome to explore episignatures.

Fetal Isolated Unilateral Multicystic Dysplastic Kidney Identified on Second Trimester Ultrasound: Genetic Investigation Results at a Single Referral Center.

Colorectal cancer in a man with silver-Russell syndrome: a case report.

Imprinting Disorders and Epigenetic Alterations in Children Conceived by Assisted Reproductive Technologies: Mechanisms, Clinical Outcomes, and Prenatal Diagnosis.

Genomic Insights into Short Stature in Children Born Small for Gestational Age: A Korean Multicenter Exome Study.

ANKS1B is a potential candidate gene for short stature and failure to thrive in children.

Early Growth Hormone Treatment Enhances Growth and Nutritional Status in Silver-Russell Syndrome.

Molecular characterization of imprinting disorders: Beckwith-Wiedemann, Silver-Russell, and Prader-Willi syndromes in Egyptian patients.

Development of the QoLISSY 0-4 questionnaire: a health-related quality of life tool for young children with short stature.

Silver-Russell syndrome: phenotype features and oral health status.

[Consensus on diagnosis and treatment of Silver-Russell syndrome (2025)].

Prenatally Detected Maternally Inherited Partial Duplication of 11p15.5 ICR1 Results in Phenotypes Overlapping Russell-Silver Syndrome in Infancy.

Clinical and genetic diagnosis and management of Silver-Russell syndrome: Report of four cases.

Comparison of the clinical characteristics of children with Silver-Russell syndrome genetically confirmed or not and their response to growth hormone therapy: a national multicenter study.

[A Silver-Russell syndrome family with HMGA2 gene variant].

Skeletal stem/progenitor cell-derived rather than osteoblast-derived IGF2 supports the development and homeostasis of skeletal system via STAT3.

Functional Independence of Taiwanese Children with Silver-Russell Syndrome.

Maternal uniparental disomy of chromosome 7: how chromosome 7-encoded imprinted genes contribute to the Silver-Russell phenotype.

Intelligence, Cognition, and Psychopathology in Adults with Silver-Russell Syndrome: Overview of the Literature and Description of Three Clinical Cases.

Adult Presentation of Dyke-Davidoff-Masson Syndrome, a Radiological Enigma: A Case Report.

First report of a Japanese patient with Silver-Russell syndrome and cystic fibrosis.

Prenatal Detection of Silver-Russell Syndrome: A First Trimester Suspicion and Diagnostic Approach.

Balanced Translocation t(3;12) Disrupting HMGA2 and NAALADL2 Genes in Twins With Silver-Russell Syndrome and Intellectual Disability.

Silver-Russell Syndrome in 2025: Is It Still a Distinct Diagnostic Entity?

Prenatal diagnosis of a silver-russell syndrome caused by 11p15 duplication and pedigree analysis.

Hygienic behaviors and use of dental care in patients with genetic syndromes.

Case report: Duplication of the GCK gene is a novel cause of nesidioblastosis: evidence from a case with Silver-Russell syndrome-like phenotype related to chromosome 7.

Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients.

Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study.

Clinical Challenges in Diagnosing Primordial Dwarfism: Insights from a MOPD II Case Study.

Rare Causes and Differential Diagnosis in Patients With Silver-Russell Syndrome.

High yield of monogenic short stature in children from Kurdistan, Iraq: A genetic testing algorithm for consanguineous families.

Percutaneous endoscopic gastrostomy helped to normalise feeding problems and gastrointestinal symptoms in Silver-Russell syndrome.

Isolated Lateralized Overgrowth - Phenotypic Spectrum and Molecular Alterations.

Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver-Russell Syndrome and Focus on the IGF1R Gene.

Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance.

A long way to syndromic short stature.

Approach to the Patient With Suspected Silver-Russell Syndrome.

Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver-Russell syndrome: case reports and literature review.

Prenatal diagnosis of Silver-Russell syndrome with 8q12 deletion including the PLAG1 gene: a case report and review.

Imprinting disorders in children conceived with assisted reproductive technology in Sweden.

Silver-Russell syndrome-like features in a child with recombinant chromosome 11 derived from maternal pericentric inversion.

A variant of uncertain significance of the HMGA2 gene in a child with Silver-Russell syndrome-like phenotype: a case report.

Perinatal features of children with Silver-Russell syndrome due to 11p15 loss of methylation.

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.

Detection of 4p16.3 deletion and 11p15.5p15.4 gain in a boy by comparative genomic hybridization array: A case report.

Anesthesia experience in an adult Silver-Russell syndrome: a case report.

Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome.

Dyke-Davidoff-Masson Syndrome as a Rare Cause of Cerebral Hemiatrophy: Insights From a Case Series.

11p13 microduplication: a differential diagnosis of Silver-Russell syndrome?

Orthodontic management of patient with Silver-Russell Syndrome (SRS). A case report.

A supervised learning method for classifying methylation disorders.

Body Composition and Metabolism in Adults With Molecularly Confirmed Silver-Russell Syndrome.

Idiopathic ketotic hypoglycemia in children: an update.

Locus-Specific and Stable DNA Demethylation at the H19/IGF2 ICR1 by Epigenome Editing Using a dCas9-SunTag System and the Catalytic Domain of TET1.

Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Silver-Russell Syndrome.

Deep Brain Stimulation for an Unusual Presentation of Myoclonus Dystonia Associated with Russell-Silver Syndrome.

Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?

Clinical characterization of PLAG1- related Silver-Russell syndrome：A clinical report.

Establishment of paternal methylation imprint at the H19/Igf2 imprinting control region.

Uncovering the phenotypic consequences of multi-locus imprinting disturbances using genome-wide methylation analysis in genomic imprinting disorders.

Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum.

First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions.

CDKN1C gene mutation causing familial Silver-Russell syndrome: A case report and review of literature.

First Report of a Derivative Chromosome 13 with a Duplicated 11p15 Locus Associated with Silver-Russell Syndrome.

Tandem Triplication 11p15.5-ICR1 (H19/IGF2) Detected by Microarray and Optical Genome Mapping in a Prenatal Beckwith-Wiedemann Case.

The effects of 3-year growth hormone treatment and body composition in Polish patients with Silver-Russell syndrome.

Growth response of syndromic versus non-syndromic children born small for gestational age (SGA) to growth hormone therapy: a Belgian study.

Action Induced Myoclonus in a 11-Year-Old Boy with Silver-Russell Syndrome.

Proteinuria and Renal Dysfunction Due to Extremely Low Birth Weight in a Patient with Silver-Russell Syndrome.

Unusual association of torticollis with Russell-Silver syndrome.

Maternally inherited autosomal dominant PLAG-1 related Silver Russell syndrome in a fetus with intra-uterine growth restriction.

Silver-Russell syndrome associated with type-I Chiari malformation. A case report.

The Genetic Landscape of Children Born Small for Gestational Age with Persistent Short Stature.

Corrigendum: Pubertal timing in children with Silver Russell syndrome compared to those born small for gestational age.

Computer-aided facial analysis as a tool to identify patients with Silver-Russell syndrome and Prader-Willi syndrome.

Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach.

Case Report: Recombinant human growth hormone therapy in a patient with spondyloepiphyseal dysplasia, Kondo-Fu type.

Silver-Russell syndrome and Turner syndrome in a girl with short stature treated with growth hormone - case report.

Executive functioning in adolescents and adults with Silver-Russell syndrome.

A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features.

Congenital absence of the bilateral long heads of the biceps brachii tendons in a patient with Silver-Russell syndrome.

Maintenance of methylation profile in imprinting control regions in human induced pluripotent stem cells.

Efficient generation of epigenetic disease model mice by epigenome editing using the piggyBac transposon system.

Dysregulated H19/Igf2 expression disrupts cardiac-placental axis during development of Silver-Russell syndrome-like mouse models.

Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients.

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.

[Diagnostics and follow-up strategy for Silver–Russell syndrome based on a case report showing familial accumulation].

Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver-Russell Syndrome Spectrum.

Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities.

Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome.

Usefulness of the MS-MLPA technique in the diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.

Prenatal Silver-Russell Syndrome in a Chinese Family Identified by Non-Invasive Prenatal Testing.

Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome.

Pubertal timing in children with Silver Russell syndrome compared to those born small for gestational age.

Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome.

CDKN1C hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited KCNQ1OT1:TSS-DMR.

High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight.

A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype.

IGF2: Development, Genetic and Epigenetic Abnormalities.

An Unusual Association: Silver-Russell Syndrome and Ectopic Thyroid.

Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system.

A 79-kb paternally inherited 7q32.2 microdeletion involving MEST in a patient with a Silver-Russell syndrome-like phenotype.

Pathogenic Copy Number and Sequence Variants in Children Born SGA With Short Stature Without Imprinting Disorders.

Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes.

Ongoing Challenges in the Diagnosis of 11p15.5-Associated Imprinting Disorders.

The Methylation Status in the Chromosome 11p15.5 Region and Metabolic Disorders in Children with Syndromic and Nonsyndromic Intrauterine Growth Restriction.

Dental pulp stem cells as a promising model to study imprinting diseases.

Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability.

Quality of life and mental health of adolescents and adults with Silver-Russell syndrome.

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.

Clinical and Molecular Heterogeneity of Silver-Russell Syndrome and Therapeutic Challenges: A Systematic Review.

A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith-Wiedemann and Temple syndromes.

Height and body mass index in molecularly confirmed Silver-Russell syndrome and the long-term effects of growth hormone treatment.

Presentation of clinical features of Silver‑Russel-like syndrome caused by 9.9 Mbp deletion 8q11.21-q12.1: the first Polish case.

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.

Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver-Russell Syndrome.

Epigenetic Mechanisms of ART-Related Imprinting Disorders: Lessons From iPSC and Mouse Models.

Case Studies of Two Classical Imprinting Growth Disorders: Silver-Russell and Beckwith-Wiedemann Syndromes.

The FASD Eye Code: a complementary diagnostic tool in fetal alcohol spectrum disorders.

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: clinical, neurodevelopmental and communication characteristics: clinical case studies.

Acquired uniparental disomy of chromosome 7 in a patient with MIRAGE syndrome that veiled a pathogenic SAMD9 variant.

Prospective study of epigenetic alterations responsible for isolated hemihyperplasia/hemihypoplasia and their association with leg length discrepancy.

Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome.

Variants in 46,XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias.

Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1.

Alteration of Genomic Imprinting after Assisted Reproductive Technologies and Long-Term Health.

Atrial septal defect and patent ductus arteriosus closure in an 8-month-old patient with Silver-Russell syndrome.

Screening of patients born small for gestational age with the Silver-Russell syndrome phenotype for DLK1 variants.

Further heterogeneity in Silver-Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement.

Russell-Silver Syndrome and Associated Feeding Challenges.

Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.

Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study.

The number of the CTCF binding sites of the H19/IGF2:IG-DMR correlates with DNA methylation and expression imprinting in a humanized mouse model.

Overgrowth-associated partial trisomy 15q24.3-qter and mosaic 11p15.5 duplication involving Silver-Russell region in a patient with lateralized asymmetry and developmental delay.

Segmental maternal uniparental disomy of chromosome 7q in a patient with congenital chloride diarrhea.

New Horizons in Short Children Born Small for Gestational Age.

New euchromatic variant dup(11)(p15.3p15.1) transmitted through two generations defined by low coverage whole genome sequencing.

A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2.

Left Second Metacarpal Pseudoepiphysis in Silver-Russell Syndrome.

When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20.

Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome.

Isolated Hypomethylation of IGF2 Associated with Severe Hypoglycemia Responsive to Growth Hormone Treatment.

Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases.

Growth Restriction and Genomic Imprinting-Overlapping Phenotypes Support the Concept of an Imprinting Network.

Emerging role of non-coding RNA in health and disease.

Short Stature Syndromes: Case Series from India.

Parthenogenetic mosaicism: generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomnia.

50 Years Ago in TheJournalofPediatrics: Familial Russell-Silver Syndrome.

Association of Assisted Reproductive Technology Treatments with Imprinting Disorders.

Experiences of adolescents living with Silver-Russell syndrome.

Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure.

Prenatal correction of IGF2 to rescue the growth phenotypes in mouse models of Beckwith-Wiedemann and Silver-Russell syndromes.

Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7.

Unusual deletion of the maternal 11p15 allele in Beckwith-Wiedemann syndrome with an impact on both imprinting domains.

Clinical Application of Sequential Epigenetic Analysis for Diagnosis of Silver-Russell Syndrome.

Chronic Hypercapnic Respiratory Failure in an Adult Patient with Silver-Russell Syndrome.

One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.

Intra-Abdominal Testicular Torsion as a Cause of Acute Abdominal Pain in Patient with Silver-Russell Syndrome: First Case of Robot-Assisted Laparoscopic Surgical Exploration with Orchidectomy.

Lessons from a 30 year follow-up of monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaicism in one of them.

Silver-Russell Syndrome: Orthodontic Perspective.

Effect of Pleomorphic Adenoma Gene 1 Deficiency on Selected Behaviours in Adult Mice.

Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5.

Novel Variant in PLAG1 in a Familial Case with Silver-Russell Syndrome Suspicion.

Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum.

A boy with Silver-Russell syndrome and Sotos syndrome.

Recombinant Chromosome 7 Driven by Maternal Chromosome 7 Pericentric Inversion in a Girl with Features of Silver-Russell Syndrome.

A paternally inherited 1.4 kb deletion of the 11p15.5 imprinting center 2 is associated with a mild familial Silver-Russell syndrome phenotype.

Imprinting disorders in humans: a review.

Genome-wide methylation analysis in Silver-Russell syndrome, Temple syndrome, and Prader-Willi syndrome.

Novel mutation points to a hot spot in CDKN1C causing Silver-Russell syndrome.

Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity.

Molecular characterization of temple syndrome families with 14q32 epimutations.

Long QT and Silver Russell syndrome: First case report in a 9-year-old girl.

Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short stature.

Patient with an autosomal-recessive MBTPS1-linked phenotype and clinical features of Silver-Russell syndrome.

Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important.

12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature.

Assisted reproductive technology represents a possible risk factor for development of epimutation-mediated imprinting disorders for mothers aged ≥ 30 years.

Maternal UPD of chromosome 7 in a patient with Silver-Russell syndrome and Pendred syndrome.

Child Neurology: Myoclonus-dystonia in Russell-Silver Syndrome: Two syndromes caused by one genetic defect.

Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome.

Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients.

Silver-Russell syndrome. Clinical and etiopathological aspects of a model genomic imprinting entity.

Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting.

Hypomethylation of a centromeric block of ICR1 is sufficient to cause Silver-Russell syndrome.