"Nervous System Malformations" 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.
Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis.
| Descriptor ID |
D009421
|
| MeSH Number(s) |
C10.500 C16.131.666
|
| Concept/Terms |
Nervous System Malformations- Nervous System Malformations
- Malformation, Nervous System
- Malformations, Nervous System
- Nervous System Malformation
- Abnormalities, Nervous System
- Abnormality, Nervous System
- Nervous System Abnormality
- Anomalies, Nervous System
- Anomaly, Nervous System
- Nervous System Anomaly
- Congenital Abnormalities, Nervous System
- Congenital Anomalies, Nervous System
- Nervous System Malformations, Congenital
- Malformations, Nervous System, Congenital
- Nervous System Abnormalities
- Nervous System Anomalies
- Nervous System Congenital Abnormalities
- Nervous System Congenital Malformations
- Abnormalities, Congenital, Nervous System
- Congenital Malformations, Nervous System
|
Below are MeSH descriptors whose meaning is more general than "Nervous System Malformations".
Below are MeSH descriptors whose meaning is more specific than "Nervous System Malformations".
This graph shows the total number of publications written about "Nervous System Malformations" by people in this website by year, and whether "Nervous System Malformations" was a major or minor topic of these publications.
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click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2010 | 0 | 1 | 1 |
| 2011 | 1 | 0 | 1 |
| 2013 | 1 | 0 | 1 |
| 2014 | 2 | 0 | 2 |
| 2017 | 2 | 0 | 2 |
| 2020 | 1 | 0 | 1 |
| 2022 | 1 | 0 | 1 |
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Below are the most recent publications written about "Nervous System Malformations" by people in Profiles.
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Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications. Am J Hum Genet. 2022 08 04; 109(8):1421-1435.
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Defining the phenotypical spectrum associated with variants in TUBB2A. J Med Genet. 2021 01; 58(1):33-40.
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Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation. Eur Radiol. 2017 Dec; 27(12):5080-5092.
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Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome. Epilepsy Behav. 2017 04; 69:104-109.
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Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier? Am J Med Genet A. 2014 Oct; 164A(10):2510-3.
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SAMHD1 prevents autoimmunity by maintaining genome stability. Ann Rheum Dis. 2015 Mar; 74(3):e17.
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EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. J Neurol. 2013 Jul; 260(7):1866-70.
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Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients. Orphanet J Rare Dis. 2011 Jun 08; 6:36.
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Cerebral arterial stenoses and stroke: novel features of Aicardi-Gouti?res syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression. Hum Mutat. 2010 Nov; 31(11):E1836-50.
MeSH information
