"Eye Abnormalities" 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.
Congenital absence of or defects in structures of the eye; may also be hereditary.
Descriptor ID |
D005124
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MeSH Number(s) |
C11.250 C16.131.384
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Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Eye Abnormalities".
Below are MeSH descriptors whose meaning is more specific than "Eye Abnormalities".
This graph shows the total number of publications written about "Eye Abnormalities" by people in this website by year, and whether "Eye Abnormalities" was a major or minor topic of these publications.
To see the data from this visualization as text,
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Year | Major Topic | Minor Topic | Total |
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2005 | 1 | 0 | 1 |
2006 | 1 | 0 | 1 |
2007 | 1 | 0 | 1 |
2014 | 1 | 0 | 1 |
2015 | 2 | 2 | 4 |
2016 | 0 | 2 | 2 |
2018 | 2 | 0 | 2 |
2019 | 1 | 0 | 1 |
2021 | 1 | 0 | 1 |
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Below are the most recent publications written about "Eye Abnormalities" by people in Profiles.
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TP63-related disorders: two case reports and a brief review of the literature. Dermatol Online J. 2021 Nov 15; 27(11).
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Moyamoya angiopathy in PHACE syndrome not associated with RNF213 variants. Childs Nerv Syst. 2019 07; 35(7):1231-1237.
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Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome. J Med Genet. 2019 04; 56(4):261-264.
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Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. Eur J Hum Genet. 2018 02; 26(2):197-209.
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De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations. Am J Med Genet A. 2017 Feb; 173(2):435-443.
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De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. Am J Hum Genet. 2016 09 01; 99(3):711-719.
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TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23). Elife. 2015 Sep 19; 4.
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Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes. Am J Med Genet A. 2015 Nov; 167A(11):2555-62.
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Syndromic ciliopathies: From single gene to multi gene analysis by SNP arrays and next generation sequencing. Mol Cell Probes. 2015 Oct; 29(5):299-307.
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Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene. Hum Mol Genet. 2015 May 01; 24(9):2594-603.