Clinical utility gene card for: Silver–Russell syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg2010202.pdf
Reference3 articles.
1. Eggermann T, Eggermann K, Schönherr N : Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome. Trends Genet 2008; 24: 195–204.
2. Turner CL, Mackay DM, Callaway JL et al: Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci. Eur J Hum Genet 2010; 18: 648–655.
3. Azzi S, Rossignol S, Steunou V et al: Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci. Hum Mol Genet 2009; 18: 4724–4733.
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1. Dysregulated H19/Igf2 expression disrupts cardiac-placental axis during development of Silver-Russell syndrome-like mouse models;eLife;2022-11-28
2. DysregulatedH19/Igf2expression disrupts cardiac-placental axis during development of Silver Russell Syndrome-like mouse models;2022-03-28
3. The Role of Long Non-coding RNAs in Human Imprinting Disorders: Prospective Therapeutic Targets;Frontiers in Cell and Developmental Biology;2021-10-25
4. 12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature;Italian Journal of Pediatrics;2020-07-28
5. Abnormal Fetal Growth;Maternal-Fetal and Neonatal Endocrinology;2020
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