"Microcephaly" 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.
A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)
| Descriptor ID |
D008831
|
| MeSH Number(s) |
C05.660.207.620 C10.500.507.400.500 C16.131.621.207.620 C16.131.666.507.400.500
|
| Concept/Terms |
Severe Congenital Microcephaly- Severe Congenital Microcephaly
- Congenital Microcephalies, Severe
- Congenital Microcephaly, Severe
- Microcephalies, Severe Congenital
- Microcephaly, Severe Congenital
- Severe Congenital Microcephalies
|
Below are MeSH descriptors whose meaning is more general than "Microcephaly".
Below are MeSH descriptors whose meaning is more specific than "Microcephaly".
This graph shows the total number of publications written about "Microcephaly" by people in this website by year, and whether "Microcephaly" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1995 | 1 | 0 | 1 |
| 1996 | 0 | 1 | 1 |
| 1997 | 0 | 1 | 1 |
| 2000 | 1 | 0 | 1 |
| 2002 | 1 | 0 | 1 |
| 2007 | 1 | 0 | 1 |
| 2009 | 2 | 0 | 2 |
| 2010 | 0 | 2 | 2 |
| 2011 | 1 | 3 | 4 |
| 2012 | 2 | 0 | 2 |
| 2013 | 2 | 1 | 3 |
| 2014 | 6 | 1 | 7 |
| 2015 | 5 | 2 | 7 |
| 2016 | 1 | 0 | 1 |
| 2017 | 1 | 2 | 3 |
| 2018 | 1 | 0 | 1 |
| 2019 | 1 | 0 | 1 |
| 2020 | 1 | 1 | 2 |
| 2021 | 9 | 0 | 9 |
| 2022 | 4 | 0 | 4 |
| 2023 | 1 | 0 | 1 |
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Below are the most recent publications written about "Microcephaly" by people in Profiles.
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Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain. Clin Genet. 2023 04; 103(4):484-491.
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Mutations in TAF8 cause a neurodegenerative disorder. Brain. 2022 09 14; 145(9):3022-3034.
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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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Impaired p53-Mediated DNA Damage Response Contributes to Microcephaly in Nijmegen Breakage Syndrome Patient-Derived Cerebral Organoids. Cells. 2022 02 25; 11(5).
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Large Phenotypic Variation of Individuals from a Family with a Novel ASPM Mutation Associated with Microcephaly, Epilepsy, and Behavioral and Cognitive Deficits. Genes (Basel). 2022 02 25; 13(3).
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A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family. Genes (Basel). 2021 09 24; 12(10).
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Developmental HCN channelopathy results in decreased neural progenitor proliferation and microcephaly in mice. Proc Natl Acad Sci U S A. 2021 08 31; 118(35).
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Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability. Eur J Hum Genet. 2021 11; 29(11):1663-1668.
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MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease. Eur J Med Genet. 2021 Oct; 64(10):104310.
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A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome. Clin Genet. 2021 10; 100(4):486-488.
MeSH information
