ReviewJournal of medical genetics2001
Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions.
Review in Journal of medical genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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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
23 citing papers in PubMed, 120 citations in OpenAlex.
- Paternal early life stress exerts intergenerational effects on male C57Bl/6J offspring risk-taking behaviors and predator scent-induced c-Fos expression.Neuronal signaling · 2023Article
- Clinical Application of Sequential Epigenetic Analysis for Diagnosis of Silver-Russell Syndrome.Annals of laboratory medicine · 2021Article
- Epigenetics of human diseases and scope in future therapeutics.Journal of Taibah University Medical Sciences · 2017Review
- Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotype.European journal of human genetics : EJHG · 2015Article
- Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome.PloS one · 2013Article
- 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
- A case of Silver-Russell syndrome (SRS): multiple pituitary hormone deficiency, lack of H19 hypomethylation and favourable growth hormone (GH) treatment response.Journal of genetics · 2009Article
- Molecular and clinical findings and their correlations in Silver-Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2-H19 domain in bodies and placentas.Journal of molecular medicine (Berlin, Germany) · 2008Article
- Genomic organization and control of the grb7 gene family.Current genomics · 2008Article
- Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR.Journal of human genetics · 2008Article
- Genomic imprinting of Dopa decarboxylase in heart and reciprocal allelic expression with neighboring Grb10.Molecular and cellular biology · 2008Article
- 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
- Hypomethylation in the 11p15 telomeric imprinting domain in a patient with Silver-Russell syndrome with a CSH1 deletion (17q24) renders a functional role of this alteration unlikely.Journal of medical genetics · 2007Article
- The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome.Journal of medical genetics · 2007Article
- Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia.American journal of human genetics · 2006Article
- Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain.Journal of medical genetics · 2006Article
- Epigenetics and human disease: translating basic biology into clinical applications.CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne · 2006Review
- Grb10 and Grb14: enigmatic regulators of insulin action--and more?The Biochemical journal · 2005Review
- Diagnostic proceeding in Silver-Russell syndrome.Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology · 2005Article
- Mulibrey nanism: clinical features and diagnostic criteria.Journal of medical genetics · 2004Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The main features of Silver-Russell syndrome (SRS) are pre- and postnatal growth restriction and a characteristic small, triangular face. SRS is also accompanied by other dysmorphic features including fifth finger clinodactyly and skeletal asymmetry. The disorder is clinically and genetically heterogeneous, and various modes of inheritance and abnormalities involving chromosomes 7, 8, 15, 17, and 18 have been associated with SRS and SRS-like cases. However, only chromosomes 7 and 17 have been consistently implicated in patients with a strict clinical diagnosis of SRS. Two cases of balanced translocations with breakpoints in 17q23.3-q25 and two cases with a hemizygous deletion of the chorionic somatomammatropin gene (CSH1) on 17q24.1 have been associated with SRS, strongly implicating this region. Maternal uniparental disomy for chromosome 7 (mUPD(7)) occurs in up to 10% of SRS patients, with disruption of genomic imprinting underlying the disease status in these cases. Recently, two SRS patients with a maternal duplication of 7p11.2-p13, and a single proband with segmental mUPD for the region 7q31-qter, were described. These key patients define two separate candidate regions for SRS on both the p and q arms of chromosome 7. Both the 7p11.2-p13 and 7q31-qter regions are subject to genomic imprinting and the homologous regions in the mouse are associated with imprinted growth phenotypes. This review provides an overview of the genetics of SRS, and focuses on the newly defined candidate regions on chromosome 7. The analyses of imprinted candidate genes within 7p11.2-p13 and 7q31-qter, and gene candidates on distal 17q, are discussed.
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