Disease: Silver-Russell dwarfism
- <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
- Acquired uniparental disomy of chromosome 7 in a patient with MIRAGE syndrome that veiled a pathogenic <em>SAMD9</em> variant
- Acquired uniparental disomy of chromosome 7 in a patient with MIRAGE syndrome that veiled a pathogenic SAMD9 variant
- 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
- 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
- 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
- Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell 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
- 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
- Perinatal features of children with Silver-Russell syndrome due to 11p15 loss of methylation
- 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
- Presentation of clinical features of Silver‑Russel-like syndrome caused by 9.9 Mbp deletion 8q11.21-q12.1: the first Polish case
- Prospective study of epigenetic alterations responsible for isolated hemihyperplasia/hemihypoplasia and their association with leg length discrepancy
- 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 in a preterm girl with 8q12.1 deletion encompassing PLAG1
- 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: clinical, neurodevelopmental and communication characteristics: clinical case studies
- 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
- Variants in 46,XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias