"Genetic Carrier Screening" 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.
Identification of individuals who are heterozygous at a GENETIC LOCUS for a recessive PHENOTYPE.
| Descriptor ID |
D006580
|
| MeSH Number(s) |
E01.370.225.562.250 E05.200.562.250 E05.393.435.250 N02.421.308.200 N02.421.726.233.221.250
|
| Concept/Terms |
Genetic Carrier Screening- Genetic Carrier Screening
- Carrier Screening, Genetic
- Screening, Genetic Carrier
- Screenings, Genetic Carrier
- Carrier Detection, Genetic
- Heterozygote Detection
- Detection, Heterozygote
- Genetic Carrier Detection
- Carriers, Genetic, Detection
- Genetic Carriers, Detection
- Heterozygote Screening
- Screening, Heterozygote
- Detection, Genetic Carrier
|
Below are MeSH descriptors whose meaning is more general than "Genetic Carrier Screening".
Below are MeSH descriptors whose meaning is more specific than "Genetic Carrier Screening".
This graph shows the total number of publications written about "Genetic Carrier Screening" by people in this website by year, and whether "Genetic Carrier Screening" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2003 | 0 | 1 | 1 |
| 2009 | 0 | 1 | 1 |
| 2012 | 0 | 1 | 1 |
| 2016 | 0 | 1 | 1 |
| 2018 | 0 | 1 | 1 |
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Below are the most recent publications written about "Genetic Carrier Screening" by people in Profiles.
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Heterozygous carriage of the alpha1-antitrypsin Pi*Z variant increases the risk to develop liver cirrhosis. Gut. 2019 06; 68(6):1099-1107.
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The Slavic NBN Founder Mutation: A Role for Reproductive Fitness? PLoS One. 2016; 11(12):e0167984.
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A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the "O" in OCRL. Klin Padiatr. 2013 Jan; 225(1):29-33.
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Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Nat Genet. 2009 Apr; 41(4):473-7.
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Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings. AJNR Am J Neuroradiol. 2003 Jun-Jul; 24(6):1188-91.
MeSH information
