"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 |
|---|
| 2000 | 0 | 1 | 1 |
| 2001 | 0 | 1 | 1 |
| 2003 | 0 | 2 | 2 |
| 2006 | 1 | 1 | 2 |
| 2007 | 0 | 3 | 3 |
| 2008 | 0 | 1 | 1 |
| 2010 | 0 | 1 | 1 |
| 2011 | 0 | 3 | 3 |
| 2012 | 0 | 3 | 3 |
| 2013 | 0 | 6 | 6 |
| 2014 | 0 | 4 | 4 |
| 2015 | 0 | 4 | 4 |
| 2016 | 0 | 7 | 7 |
| 2017 | 1 | 5 | 6 |
| 2018 | 0 | 4 | 4 |
| 2019 | 1 | 4 | 5 |
| 2020 | 0 | 4 | 4 |
| 2021 | 0 | 6 | 6 |
| 2022 | 0 | 1 | 1 |
| 2023 | 0 | 3 | 3 |
| 2024 | 0 | 4 | 4 |
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Below are the most recent publications written about "Facies" by people in Profiles.
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Assessment of Growth in Cardio-Facio-Cutaneous Syndrome. Am J Med Genet A. 2026 Nov; 200(11):2443-2453.
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Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023). Am J Med Genet A. 2024 10; 194(10):e63638.
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Deciphering the Role of Filamin B Calponin-Homology Domain in Causing the Larsen Syndrome, Boomerang Dysplasia, and Atelosteogenesis Type I Spectrum Disorders via a Computational Approach. Molecules. 2020 Nov 26; 25(23).
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Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15. Hum Mol Genet. 2019 09 01; 28(17):2900-2919.
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STAT3 gain of function: a new aetiology of severe rheumatic disease. Rheumatology (Oxford). 2019 02 01; 58(2):365-367.
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BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes. Nat Commun. 2018 11 20; 9(1):4885.
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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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Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet. 2017 04; 136(4):377-386.
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De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability. Hum Mutat. 2016 Apr; 37(4):354-8.
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Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive. Am J Med Genet A. 2016 Mar; 170(3):694-8.