"Facies" 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.
The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)
| Descriptor ID |
D019066
|
| MeSH Number(s) |
C23.550.291.812 E01.370.600.230
|
| Concept/Terms |
|
Below are MeSH descriptors whose meaning is more general than "Facies".
Below are MeSH descriptors whose meaning is more specific than "Facies".
This graph shows the total number of publications written about "Facies" by people in this website by year, and whether "Facies" was a major or minor topic of these publications.
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click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2003 | 2 | 0 | 2 |
| 2006 | 1 | 0 | 1 |
| 2009 | 0 | 1 | 1 |
| 2010 | 0 | 2 | 2 |
| 2011 | 0 | 1 | 1 |
| 2012 | 0 | 3 | 3 |
| 2013 | 0 | 2 | 2 |
| 2014 | 0 | 4 | 4 |
| 2015 | 0 | 4 | 4 |
| 2016 | 0 | 2 | 2 |
| 2017 | 2 | 3 | 5 |
| 2018 | 0 | 3 | 3 |
| 2020 | 0 | 1 | 1 |
| 2021 | 0 | 2 | 2 |
| 2022 | 0 | 1 | 1 |
| 2023 | 0 | 1 | 1 |
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Below are the most recent publications written about "Facies" by people in Profiles.
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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder. Am J Hum Genet. 2023 06 01; 110(6):963-978.
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Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome. Int J Mol Sci. 2022 Nov 08; 23(22).
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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.
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ANKRD11 variants: KBG syndrome and beyond. Clin Genet. 2021 08; 100(2):187-200.
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Inherited cases of CNOT3-associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies. Clin Genet. 2020 10; 98(4):408-412.
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Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre- and postnatal diagnostic testing in Germany. Am J Med Genet C Semin Med Genet. 2018 06; 178(2):198-205.
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De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder. Am J Hum Genet. 2018 06 07; 102(6):1195-1203.
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Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. Am J Hum Genet. 2018 03 01; 102(3):468-479.
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Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features. Brain. 2017 Nov 01; 140(11):2879-2894.
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Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia. Eur J Hum Genet. 2017 10; 25(10):1126-1133.
MeSH information
