ArticleJournal of medical genetics1997
Maternal uniparental disomy 7 in Silver-Russell syndrome.
Article in Journal of medical genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 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
26 citing papers in PubMed, 152 citations in OpenAlex.
- Diagnosis and management of Silver-Russell syndrome: second international consensus statement.Nature reviews. Endocrinology · 2026Review
- Review
- Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children.Scientific reports · 2017Article
- Diagnosis and management of Silver-Russell syndrome: first international consensus statement.Nature reviews. Endocrinology · 2017Article
- Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology.Molecular syndromology · 2016Review
- Genome-wide methylation analysis in Silver-Russell syndrome patients.Human genetics · 2015Article
- First genetic screening for maternal uniparental disomy of chromosome 7 in Turkish silver-russell syndrome patients.Iranian journal of pediatrics · 2012Article
- Genetic factors associated with small for gestational age birth and the use of human growth hormone in treating the disorder.International journal of pediatric endocrinology · 2012Article
- Tissue-specific alternative polyadenylation at the imprinted gene Mest regulates allelic usage at Copg2.Nucleic acids research · 2012Article
- Intrauterine growth retardation associated with precocious puberty and sertoli cell hyperplasia.Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme · 2010Article
- Silver-Russell syndrome: genetic basis and molecular genetic testing.Orphanet journal of rare diseases · 2010Review
- Grb10 and Grb14: enigmatic regulators of insulin action--and more?The Biochemical journal · 2005Review
- 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
- Identification of a large novel imprinted gene cluster on mouse proximal chromosome 6.Genome research · 2003Article
- Mice lacking paternally expressed Pref-1/Dlk1 display growth retardation and accelerated adiposity.Molecular and cellular biology · 2002Article
- 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
- A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region.American journal of human genetics · 2001Article
- Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome.American journal of human genetics · 2000Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Silver-Russell syndrome (SRS) is characterised by intrauterine and postnatal growth failure accompanied by a variable number of dysmorphic features. It is usually sporadic although a few familial cases have been described. In a prospective study of 33 patients with sporadic SRS, we have studied the parent of origin of chromosome 7 using variable number tandem repeat (VNTR) or microsatellite repeat markers and have identified two patients with maternal uniparental disomy of chromosome 7 (mUPD7). In one family, inconsistent inheritance of paternal alleles of markers on chromosomes other than 7 led to their exclusion from further study. The probands were clinically mild and symmetrical, but showed no gross clinical differences from the 30 patients with chromosome 7 derived from both parents.
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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.