"Beckwith-Wiedemann 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.
A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.
Descriptor ID |
D001506
|
MeSH Number(s) |
C16.131.077.133 C16.131.260.080 C16.320.180.080
|
Concept/Terms |
Beckwith-Wiedemann Syndrome- Beckwith-Wiedemann Syndrome
- Beckwith Wiedemann Syndrome
- Syndrome, Beckwith-Wiedemann
- Exomphalos-Macroglossia-Gigantism Syndrome
- Wiedemann-Beckwith Syndrome (WBS)
- Syndrome, Wiedemann-Beckwith (WBS)
- Syndromes, Wiedemann-Beckwith (WBS)
- Wiedemann Beckwith Syndrome (WBS)
- Wiedemann-Beckwith Syndromes (WBS)
- EMG Syndrome
- EMG Syndromes
- Syndrome, EMG
- Syndromes, EMG
- Wiedemann-Beckwith Syndrome
- Syndrome, Wiedemann-Beckwith
- Wiedemann Beckwith Syndrome
|
Below are MeSH descriptors whose meaning is more general than "Beckwith-Wiedemann Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Beckwith-Wiedemann Syndrome".
This graph shows the total number of publications written about "Beckwith-Wiedemann Syndrome" by people in this website by year, and whether "Beckwith-Wiedemann 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 |
---|
2012 | 1 | 1 | 2 |
2014 | 1 | 1 | 2 |
2015 | 3 | 0 | 3 |
2016 | 1 | 0 | 1 |
2018 | 1 | 0 | 1 |
2019 | 1 | 0 | 1 |
2020 | 3 | 1 | 4 |
2021 | 2 | 0 | 2 |
2022 | 1 | 0 | 1 |
To return to the timeline,
click here.
Below are the most recent publications written about "Beckwith-Wiedemann Syndrome" by people in Profiles.
-
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences. Clin Epigenetics. 2022 03 16; 14(1):41.
-
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.
-
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.
-
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.
-
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.
-
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.
-
Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome. Clin Epigenetics. 2020 05 11; 12(1):63.
-
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).
-
Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring. J Med Genet. 2018 07; 55(7):497-504.
-
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome. Eur J Hum Genet. 2016 10; 24(10):1377-87.