 Eye Abnormalities
"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, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1998 | 1 | 0 | 1 | | 2002 | 0 | 1 | 1 | | 2004 | 1 | 0 | 1 | | 2006 | 0 | 1 | 1 | | 2010 | 1 | 0 | 1 | | 2011 | 1 | 0 | 1 | | 2016 | 1 | 0 | 1 | | 2018 | 1 | 1 | 2 | | 2019 | 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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Balkin DM, Poranki M, Forester CM, Dorsey MJ, Slavotinek A, Pomerantz JH. TASP1 mutation in a female with craniofacial anomalies, anterior segment dysgenesis, congenital immunodeficiency and macrocytic anemia. Mol Genet Genomic Med. 2019 09; 7(9):e818.
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Louka P, Vasudevan KK, Guha M, Joachimiak E, Wloga D, Tomasi RF, Baroud CN, Dupuis-Williams P, Galati DF, Pearson CG, Rice LM, Moresco JJ, Yates JR, Jiang YY, Lechtreck K, Dentler W, Gaertig J. Proteins that control the geometry of microtubules at the ends of cilia. J Cell Biol. 2018 12 03; 217(12):4298-4313.
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Dinella JD, Chen J, Webb S, Siegfried E, Bree AF, Lakshmanachetty S, Balaiya V, Koster MI, Koch PJ. A Human Stem Cell-Based System to Study?the?Role of TP63 Mutations in Ectodermal Dysplasias. J Invest Dermatol. 2018 07; 138(7):1662-1665.
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Martino VB, Sabljic T, Deschamps P, Green RM, Akula M, Peacock E, Ball A, Williams T, West-Mays JA. Conditional deletion of AP-2? in mouse cranial neural crest results in anterior segment dysgenesis and early-onset glaucoma. Dis Model Mech. 2016 08 01; 9(8):849-61.
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Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Louren?o C, Martorell L, Garcia-Cazorla ?, Ozy?rek H, Haliloglu G, Tuysuz B, Top?u M, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. J Med Genet. 2015 Aug; 52(8):514-22.
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Koch PJ, Dinella J, Fete M, Siegfried EC, Koster MI. Modeling AEC-New approaches to study rare genetic disorders. Am J Med Genet A. 2014 Oct; 164A(10):2443-54.
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Koster MI, Dinella J, Chen J, O'Shea C, Koch PJ. Integrating animal models and in vitro tissue models to elucidate the role of desmosomal proteins in diseases. Cell Commun Adhes. 2014 Feb; 21(1):55-63.
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Ferone G, Thomason HA, Antonini D, De Rosa L, Hu B, Gemei M, Zhou H, Ambrosio R, Rice DP, Acampora D, van Bokhoven H, Del Vecchio L, Koster MI, Tadini G, Spencer-Dene B, Dixon M, Dixon J, Missero C. Mutant p63 causes defective expansion of ectodermal progenitor cells and impaired FGF signalling in AEC syndrome. EMBO Mol Med. 2012 Mar; 4(3):192-205.
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Wisard J, Faulkner A, Chrenek MA, Waxweiler T, Waxweiler W, Donmoyer C, Liou GI, Craft CM, Schmid GF, Boatright JH, Pardue MT, Nickerson JM. Exaggerated eye growth in IRBP-deficient mice in early development. Invest Ophthalmol Vis Sci. 2011 Jul 29; 52(8):5804-11.
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Pinar H, Koch MA, Hawkins H, Heim-Hall J, Shehata B, Thorsten VR, Chin S, Willinger M, dela Monte S. The Stillbirth Collaborative Research Network neuropathologic examination protocol. Am J Perinatol. 2011 Dec; 28(10):793-802.
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