"Genetic Heterogeneity" 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 presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)
Descriptor ID |
D018740
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MeSH Number(s) |
G05.365.331
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Concept/Terms |
Genetic Heterogeneity- Genetic Heterogeneity
- Heterogeneity, Genetic
- Genetic Heterogeneities
- Heterogeneities, Genetic
|
Below are MeSH descriptors whose meaning is more general than "Genetic Heterogeneity".
Below are MeSH descriptors whose meaning is more specific than "Genetic Heterogeneity".
This graph shows the total number of publications written about "Genetic Heterogeneity" by people in this website by year, and whether "Genetic Heterogeneity" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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2009 | 0 | 1 | 1 |
2010 | 0 | 2 | 2 |
2011 | 0 | 1 | 1 |
2013 | 0 | 1 | 1 |
2014 | 0 | 2 | 2 |
2016 | 1 | 1 | 2 |
2019 | 1 | 0 | 1 |
2020 | 0 | 2 | 2 |
2021 | 1 | 0 | 1 |
2023 | 0 | 1 | 1 |
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Below are the most recent publications written about "Genetic Heterogeneity" by people in Profiles.
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Dissecting the genetic heterogeneity of gastric cancer. EBioMedicine. 2023 Jun; 92:104616.
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Genome sequencing in families with congenital limb malformations. Hum Genet. 2021 Aug; 140(8):1229-1239.
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Convergent network effects along the axis of gene expression during prostate cancer progression. Genome Biol. 2020 12 14; 21(1):302.
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PET/MRI and genetic intrapatient heterogeneity in head and neck cancers. Strahlenther Onkol. 2020 Jun; 196(6):542-551.
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Radiogenomics in head and neck cancer: correlation of radiomic heterogeneity and somatic mutations in TP53, FAT1 and KMT2D. Strahlenther Onkol. 2019 Sep; 195(9):771-779.
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Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis. Am J Med Genet A. 2016 07; 170(7):1813-9.
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Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome. Biomed Res Int. 2016; 2016:8742939.
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Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity. Eur J Hum Genet. 2015 Sep; 23(9):1192-9.
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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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Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet. 2013 Sep; 45(9):984-94.