ArticleJournal of human genetics2008
Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR.
Article in Journal of human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 3 of them syntheses that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
15 citing papers in PubMed, 3 syntheses or guidelines pooled it, 49 citations in OpenAlex.
- Pooled it
- VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis.Clinical dysmorphology · 2012Pooled it
- Dynamic changes in gene expression during human early embryo development: from fundamental aspects to clinical applications.Human reproduction updatePooled it
- Concordant epigenetic and discordant clinical PHP1B/iPPSD3 manifestations in two monozygotic adolescent twins.Clinical epigenetics · 2026Article
- Rhombencephalosynapsis: Fused cerebellum, confused geneticists.American journal of medical genetics. Part C, Seminars in medical genetics · 2018Review
- Systemic signalling and local effectors in developmental stability, body symmetry, and size.Cell stress · 2018Review
- Effect of abnormal GpG methylation in the second trimester of pregnancy on adverse health risk of offspring.Experimental and therapeutic medicine · 2018Article
- New developments in Silver-Russell syndrome and implications for clinical practice.Epigenomics · 2016Review
- Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome).European journal of human genetics : EJHG · 2015Article
- Epigenetics of discordant monozygotic twins: implications for disease.Genome medicine · 2014Review
- VATER/VACTERL Association: Evidence for the Role of Genetic Factors.Molecular syndromology · 2013Article
- Epigenetic investigation of variably X chromosome inactivated genes in monozygotic female twins discordant for primary biliary cirrhosis.Epigenetics · 2011Article
- Epigenetics lessons from twins: prospects for autoimmune disease.Clinical reviews in allergy & immunology · 2010Review
- Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci.European journal of human genetics : EJHG · 2010Article
- Epigenetic regulation in mammalian preimplantation embryo development.Reproductive biology and endocrinology : RB&E · 2009Review
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 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Silver-Russell syndrome (SRS) is characterized by growth failure and dysmorphic features, and is frequently caused by hypomethylation of the paternally derived H19-DMR (epimutation). We observed 5 8/12-year-old female twins discordant for SRS. One twin exhibited SRS-compatible features, such as pre- and postnatal growth failure, relative macrocephaly, triangular face, left hemihypotrophy, and bilateral fifth finger clinodactyly, whereas the other twin showed apparently normal phenotype. Microsatellite analysis for 26 loci on multiple chromosomes showed monozygosity. Methylation analysis for the H19-DMR indicated epimutation in roughly half of cells in the affected twin and normal patterns in the unaffected twin and the parents. X-inactivation analysis revealed random X-inactivation with a nearly identical pattern between the twins. The discordant methylation pattern of the H19-DMR may primarily be due to a failure to maintain the DNA methyltransferase-1-dependent methylation imprint around the pre-implantation S phase, because such failure would result in the production of two different cell clones, one with normally methylated DMR and the other with demethylated DMR, leading to the separation of cells with different characters and resultant twinning.
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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.