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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| Year | Major Topic | Minor Topic | Total |
|---|
| 2000 | 0 | 2 | 2 |
| 2007 | 0 | 1 | 1 |
| 2008 | 0 | 1 | 1 |
| 2016 | 1 | 0 | 1 |
| 2017 | 0 | 1 | 1 |
| 2018 | 3 | 4 | 7 |
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Below are the most recent publications written about "Genetic Carrier Screening" by people in Profiles.
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Expanded carrier screening: A current perspective. Eur J Obstet Gynecol Reprod Biol. 2018 Nov; 230:41-54.
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Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants. Genet Med. 2019 04; 21(4):816-825.
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Gestational Outcomes of Pregnant Women Who Have Had Invasive Prenatal Testing for the Prenatal Diagnosis of Duchenne Muscular Dystrophy. J Pregnancy. 2018; 2018:9718316.
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Identifying normal embryos from reciprocal translocation carriers by whole chromosome haplotyping. J Genet Genomics. 2018 09 20; 45(9):505-508.
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A Child with a c.6923_6928dup (p.Arg2308_Met2309dup) SPTAN1 Mutation Associated with a Severe Early Infantile Epileptic Encephalopathy. Int J Mol Sci. 2018 07 06; 19(7).
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[Screening Test of Fabry Disease in Patients with Renal Replacement Therapy in the City of Modena]. G Ital Nefrol. 2018 Mar; 35(2).
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Peculiar laboratory phenotype/ genotype relationship due to compound inherited protein C defects in a child with severe venous thromboembolism. Hamostaseologie. 2018 Feb; 38(1):33-38.
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Newborn Sequencing in Genomic Medicine and Public Health. Pediatrics. 2017 Feb; 139(2).
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Preconception genetic carrier screening: use and problems. Ups J Med Sci. 2017 03; 122(1):67.
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Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified. Arch Neurol. 2008 Apr; 65(4):489-94.