ArticleJournal of medical genetics1999
An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands.
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 14 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
14 citing papers in PubMed, 57 citations in OpenAlex.
- Diagnosis and management of Silver-Russell syndrome: first international consensus statement.Nature reviews. Endocrinology · 2017Article
- Mosaic UPD(7q)mat in a patient with silver Russell syndrome.Molecular cytogenetics · 2017Article
- Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction.Molecular cytogenetics · 2017Article
- New developments in Silver-Russell syndrome and implications for clinical practice.Epigenomics · 2016Review
- Genome-wide methylation analysis in Silver-Russell syndrome patients.Human genetics · 2015Article
- Methylation levels at imprinting control regions are not altered with ovulation induction or in vitro fertilization in a birth cohort.Human reproduction (Oxford, England) · 2012Article
- Growth parameters in maternal uniparental disomy 7 and 14.European journal of pediatrics · 2007Article
- Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST.Journal of assisted reproduction and genetics · 2007Article
- Global analysis of uniparental disomy using high density genotyping arrays.Journal of medical genetics · 2005Article
- Imprinted methylation profiles for proximal mouse chromosomes 11 and 7 as revealed by methylation-sensitive representational difference analysis.Mammalian genome : official journal of the International Mammalian Genome Society · 2003Article
- Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions.Journal of medical genetics · 2001Review
- Russell-Silver Syndrome in a Nigerian infant with intrauterine growth retardation.Journal of the National Medical Association · 2001Article
- Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome.American journal of human genetics · 2000Article
- The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria.Journal of medical genetics · 1999Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Silver-Russell syndrome (SRS) shares common features of intrauterine growth retardation (IUGR) and a number of dysmorphic features including lateral asymmetry in about 50% of subjects. Its genetic aetiology is complex and most probably heterogeneous. Approximately 7% of patients with SRS have been found to have maternal uniparental disomy of chromosome 7 (mUPD7). Genomic DNA samples from five SRS patients with mUPD7 have been analysed for common regions of isodisomy using 40 polymorphic markers distributed along the length of chromosome 7. No regions of common isodisomy were found among the five patients. It is most likely that imprinted gene(s) rather than recessive mutations cause the common phenotype. Heterodisomy of markers around the centromere indicated that the underlying cause of the mUPD7 is a maternal meiosis I non-disjunction error in these five subjects.
Indexed as
Identifiers
10874633PMC1734382W2130351799What 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.