"Loss of Heterozygosity" 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.
The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.
| Descriptor ID |
D019656
|
| MeSH Number(s) |
G05.365.590.029.530
|
| Concept/Terms |
Loss of Heterozygosity- Loss of Heterozygosity
- Heterozygosity Loss
- Allelic Loss
- Allelic Losses
- Heterozygosity, Loss of
|
Below are MeSH descriptors whose meaning is more general than "Loss of Heterozygosity".
Below are MeSH descriptors whose meaning is more specific than "Loss of Heterozygosity".
This graph shows the total number of publications written about "Loss of Heterozygosity" by people in this website by year, and whether "Loss of Heterozygosity" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1999 | 0 | 1 | 1 |
| 2000 | 0 | 2 | 2 |
| 2009 | 0 | 1 | 1 |
| 2010 | 0 | 1 | 1 |
| 2014 | 0 | 1 | 1 |
| 2020 | 0 | 1 | 1 |
| 2021 | 1 | 1 | 2 |
| 2022 | 0 | 1 | 1 |
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Below are the most recent publications written about "Loss of Heterozygosity" by people in Profiles.
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Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications. Am J Hum Genet. 2022 08 04; 109(8):1421-1435.
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Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex. J Med Genet. 2023 01; 60(1):48-56.
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Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder. Am J Hum Genet. 2021 06 03; 108(6):1069-1082.
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Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883). J Med Genet. 2022 03; 59(3):248-252.
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A new workflow for whole-genome sequencing of single human cells. Hum Mutat. 2014 Oct; 35(10):1260-70.
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Analysis of the adenomatous polyposis coli (APC) gene in childhood and adolescent germ cell tumors. Pediatr Blood Cancer. 2011 Mar; 56(3):384-91.
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Integrated analysis of copy number alterations and gene expression: a bivariate assessment of equally directed abnormalities. Bioinformatics. 2009 Dec 15; 25(24):3228-35.
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Complete sequencing and mRNA expression analysis of the MEN-I gene in adrenal myelolipoma. Horm Metab Res. 2000 May; 32(5):169-73.
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Complete sequencing and messenger ribonucleic acid expression analysis of the MEN I gene in adrenal cancer. J Clin Endocrinol Metab. 2000 Jan; 85(1):441-8.
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MEN I gene mutations in sporadic adrenal adenomas. Hum Genet. 1999 Dec; 105(6):603-10.
MeSH information
