ArticleJournal of medical genetics1999
The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria.
Article in Journal of medical genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 73 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
73 citing papers in PubMed, 271 citations in OpenAlex.
- The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome.Genetic testing and molecular biomarkers · 2015Trial
- Longitudinal study of somatic development in Polish patients with Silver-Russell syndrome reveals that chest-to-head proportion as a new clinical indicator for the syndrome.Orphanet journal of rare diseases · 2026Article
- Germline epigenome editing identifies H3K9me3 as a mediator of intergenerational DNA methylation recovery in mice.Nature communications · 2025Article
- Silver-Russell syndrome secondary to rare (epi)genotypes exhibits phenotypic heterogeneity challenging clinical diagnosis.Clinical epigenetics · 2025Article
- DNA methylation reshapes the expression of adipokines and adipose factors in white adipose tissues.Epigenetics & chromatin · 2025Review
- Skeletal stem/progenitor cell-derived rather than osteoblast-derived IGF2 supports the development and homeostasis of skeletal system via STAT3.International journal of biological sciences · 2025Article
- Approach to the Patient With Suspected Silver-Russell Syndrome.The Journal of clinical endocrinology and metabolism · 2024Review
- Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Silver-Russell Syndrome.International journal of medical sciences · 2024Article
- Efficient generation of epigenetic disease model mice by epigenome editing using the piggyBac transposon system.Epigenetics & chromatin · 2022Article
- Clinical spectrum of female genital malformations in prenatal diagnosis.Archives of gynecology and obstetrics · 2022Review
- A critical bioenergetic switch is regulated by IGF2 during murine cartilage development.Communications biology · 2022Article
- Article
- Genetic variation in placental insufficiency: What have we learned over time?Frontiers in cell and developmental biology · 2022Review
- Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver-Russell Syndrome.Journal of personalized medicine · 2021Article
- Clinical Application of Sequential Epigenetic Analysis for Diagnosis of Silver-Russell Syndrome.Annals of laboratory medicine · 2021Article
- Isolated Hypomethylation ofDiagnostics (Basel, Switzerland) · 2021Article
- Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum.The Journal of clinical endocrinology and metabolism · 2021Article
- Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity.European journal of endocrinology · 2020Article
- Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood.Journal of medical genetics · 2020Article
- Maternal UPD of chromosome 7 in a patient with Silver-Russell syndrome and Pendred syndrome.Journal of clinical laboratory analysis · 2020Article
13 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Silver-Russell syndrome (SRS) is characterised by severe intrauterine growth retardation, with a preserved head circumference, leading to a lean body habitus and short stature. Facial dysmorphism and asymmetry are considered typical features of the syndrome, although the range of phenotypic variance is unknown. Fifty seven subjects varying in age from 0.84 to 35.01 years, in whom the diagnosis of SRS had been considered definite or likely, were re-evaluated in a combined clinical and molecular study by a single observer (SMP). In 50 patients the clinical findings complied with a very broad definition of SRS. Notable additional findings included generalised camptodactyly seen in 11 (22%), many with distal arthrogryposis. Thirteen of the 25 males required genital surgery for conditions including hypospadias and inguinal hernia. Fourteen (36.8%) subjects above school age have received a statement of special educational needs. Molecular genetic analysis was performed in 42 subjects and has identified maternal uniparental disomy of chromosome 7 in four. The phenotype was generally milder with birth weights for one patient above and three below -2 SD from the mean. Two children had classical facial dysmorphic features, and two had a milder facial phenotype. Of relevance to the possible molecular mechanism underlying this condition, none of the four disomic patients had significant asymmetry.
Indexed as
Identifiers
10544228PMC1734267W2106622649What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.