Genetic Carrier Screening
"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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click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1994 | 0 | 1 | 1 |
| 2003 | 0 | 1 | 1 |
| 2007 | 1 | 0 | 1 |
| 2009 | 1 | 0 | 1 |
| 2011 | 1 | 0 | 1 |
| 2012 | 2 | 0 | 2 |
| 2015 | 1 | 0 | 1 |
| 2017 | 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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Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study. Pediatrics. 2017 Jun; 139(Suppl 3):S216-S225.
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Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening. Pediatrics. 2015 Aug; 136(2):e433-40.
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Newborn, carrier, and early childhood screening recommendations for fragile X. Pediatrics. 2012 Dec; 130(6):1126-35.
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Cognitive performance of GBA mutation carriers with early-onset PD: the CORE-PD study. Neurology. 2012 May 01; 78(18):1434-40.
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Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice. Acta Neuropathol. 2011 Oct; 122(4):467-79.
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A review of fragile X premutation disorders: expanding the psychiatric perspective. J Clin Psychiatry. 2009 Jun; 70(6):852-62.
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FMR1 CGG repeat length predicts motor dysfunction in premutation carriers. Neurology. 2008 Apr 15; 70(16 Pt 2):1397-402.
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Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet. 2003 Apr; 72(4):869-78.
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Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient. J Biol Chem. 1994 Feb 18; 269(7):4819-26.
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Presymptomatic and early detection in Huntington's disease. Ann Neurol. 1980 Oct; 8(4):343-7.