"Penetrance" 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 percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From Glossary of Genetics, 5th ed)
Descriptor ID |
D019683
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MeSH Number(s) |
G05.420.655 G05.695.650
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Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Penetrance".
Below are MeSH descriptors whose meaning is more specific than "Penetrance".
This graph shows the total number of publications written about "Penetrance" by people in this website by year, and whether "Penetrance" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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2013 | 1 | 0 | 1 |
2014 | 0 | 1 | 1 |
2015 | 0 | 2 | 2 |
2016 | 0 | 1 | 1 |
2017 | 0 | 1 | 1 |
2018 | 0 | 3 | 3 |
2021 | 0 | 1 | 1 |
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Below are the most recent publications written about "Penetrance" by people in Profiles.
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Impaired complex I repair causes recessive Leber's hereditary optic neuropathy. J Clin Invest. 2021 03 15; 131(6).
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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genet Med. 2019 06; 21(6):1295-1307.
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Exome sequencing in large, multiplex bipolar disorder families from Cuba. PLoS One. 2018; 13(10):e0205895.
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Penetrance and Expressivity in Inherited Cancer Predisposing Syndromes. Trends Cancer. 2018 11; 4(11):718-728.
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A low-frequency haplotype spanning SLX4/FANCP constitutes a new risk locus for early-onset breast cancer (<60 years) and is associated with reduced DNA repair capacity. Int J Cancer. 2018 02 15; 142(4):757-768.
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De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth. Eur J Hum Genet. 2016 12; 24(12):1739-1745.
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GEMMs addressing Pax5 loss-of-function in childhood pB-ALL. Eur J Med Genet. 2016 Mar; 59(3):166-72.
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Mutations Causing Complex Disease May under Certain Circumstances Be Protective in an Epidemiological Sense. PLoS One. 2015; 10(7):e0132150.
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Nonsyndromic cleft lip with or without cleft palate: Increased burden of rare variants within Gremlin-1, a component of the bone morphogenetic protein 4 pathway. Birth Defects Res A Clin Mol Teratol. 2014 Jun; 100(6):493-8.
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Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations. Eur J Hum Genet. 2014 Jul; 22(7):881-7.