"Silver-Russell Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Genetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growth retardation, facial dysmorphism, bilateral body asymmetry, and clinodactyly of the fifth fingers. Alterations in GENETIC IMPRINTING are involved. Hypomethylation of IGF2/H19 locus near an imprinting center region of chromosome 11p15 plays a role in a subset of Silver-Russell syndrome. Hypermethylation of the same chromosomal region, on the other hand, can cause BECKWITH-WIEDEMANN SYNDROME. Maternal UNIPARENTAL DISOMY for chromosome 7 is known to play a role in its etiology.
Descriptor ID |
D056730
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MeSH Number(s) |
C05.660.207.925 C16.131.077.855 C16.131.260.870 C16.320.180.870 C16.320.240.937
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Concept/Terms |
Silver-Russell Syndrome- Silver-Russell Syndrome
- Silver Russell Syndrome
- Syndrome, Silver-Russell
- Russell-Silver Syndrome
- Russell Silver Syndrome
- Syndrome, Russell Silver
- Silver Russell Dwarfism
- Dwarfism, Silver Russell
- Silver-Russell Dwarfism
- Dwarfism, Silver-Russell
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Below are MeSH descriptors whose meaning is more general than "Silver-Russell Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Silver-Russell Syndrome".
This graph shows the total number of publications written about "Silver-Russell Syndrome" by people in this website by year, and whether "Silver-Russell Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
Year | Major Topic | Minor Topic | Total |
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2010 | 3 | 0 | 3 |
2011 | 2 | 0 | 2 |
2012 | 3 | 1 | 4 |
2013 | 1 | 0 | 1 |
2014 | 1 | 0 | 1 |
2015 | 5 | 0 | 5 |
2016 | 2 | 0 | 2 |
2017 | 1 | 0 | 1 |
2018 | 3 | 0 | 3 |
2019 | 3 | 0 | 3 |
2020 | 3 | 1 | 4 |
2021 | 3 | 0 | 3 |
2022 | 1 | 0 | 1 |
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Below are the most recent publications written about "Silver-Russell Syndrome" by people in Profiles.
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Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences. Clin Epigenetics. 2022 03 16; 14(1):41.
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New euchromatic variant dup(11)(p15.3p15.1) transmitted through two generations defined by low coverage whole genome sequencing. Am J Med Genet A. 2021 10; 185(10):3053-3056.
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Unusual deletion of the maternal 11p15 allele in Beckwith-Wiedemann syndrome with an impact on both imprinting domains. Clin Epigenetics. 2021 02 04; 13(1):30.
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One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome. Orphanet J Rare Dis. 2021 01 22; 16(1):42.
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Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important. J Mol Med (Berl). 2020 10; 98(10):1447-1455.
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Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5. Clin Genet. 2020 10; 98(4):418-419.
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HMGA2 Variants in Silver-Russell Syndrome: Homozygous and Heterozygous Occurrence. J Clin Endocrinol Metab. 2020 07 01; 105(7).
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Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting. J Med Genet. 2021 03; 58(3):173-176.
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Molecular and Clinical Opposite Findings in 11p15.5 Associated Imprinting Disorders: Characterization of Basic Mechanisms to Improve Clinical Management. Int J Mol Sci. 2019 Aug 28; 20(17).
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Contribution of GRB10 to the prenatal phenotype in Silver-Russell syndrome? Lessons from 7p12 copy number variations. Eur J Med Genet. 2019 Jul; 62(7):103671.