 Facies
"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
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| MeSH Number(s) |
C23.550.291.812 E01.370.600.230
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| Concept/Terms |
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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 UAMS Profiles by year, and whether "Facies" 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 |
|---|
| 2023 | 0 | 1 | 1 | | 2022 | 0 | 1 | 1 | | 2021 | 0 | 1 | 1 | | 2020 | 0 | 2 | 2 | | 2019 | 1 | 2 | 3 | | 2018 | 1 | 2 | 3 | | 2016 | 0 | 2 | 2 | | 2015 | 1 | 0 | 1 | | 2014 | 0 | 3 | 3 | | 2013 | 1 | 0 | 1 | | 2012 | 0 | 1 | 1 | | 2011 | 0 | 1 | 1 | | 2010 | 0 | 1 | 1 |
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Below are the most recent publications written about "Facies" by people in Profiles over the past ten years.
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Buijsse N, Jansen FE, Ockeloen CW, van Kempen MJA, Zeidler S, Willemsen MH, Scarano E, Monticone S, Zonneveld-Huijssoon E, Low KJ, Bayat A, Sisodiya SM, Samanta D, Lesca G, de Jong D, Giltay JC, Verbeek NE, Kleefstra T, Brilstra EH, Vlaskamp DRM. Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome. Epilepsia Open. 2023 Dec; 8(4):1300-1313.
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Yang K, Han J, Asada M, Gill JG, Park JY, Sathe MN, Gattineni J, Wright T, Wysocki CA, de la Morena MT, Garza LA, Yan N. Cytoplasmic RNA quality control failure engages mTORC1-mediated autoinflammatory disease. J Clin Invest. 2022 01 18; 132(2).
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Weaver KN, Care M, Wakefield E, Zarate YA, Skoch J, Gripp KW, Prada CE. Craniosynostosis is a feature of Costello syndrome. Am J Med Genet A. 2022 04; 188(4):1280-1286.
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Gonzalez Garcia A, Malone J, Li H. A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentation. Cold Spring Harb Mol Case Stud. 2020 06; 6(3).
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Nabais S? MJ, El Tekle G, de Brouwer APM, Sawyer SL, Del Gaudio D, Parker MJ, Kanani F, van den Boogaard MH, van Gassen K, Van Allen MI, Wierenga K, Purcarin G, Elias ER, Begtrup A, Keller-Ramey J, Bernasocchi T, van de Wiel L, Gilissen C, Venselaar H, Pfundt R, Vissers LELM, Theurillat JP, de Vries BBA. De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders. Am J Hum Genet. 2020 03 05; 106(3):405-411.
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Burkardt DD, Zachariou A, Loveday C, Allen CL, Amor DJ, Ardissone A, Banka S, Bourgois A, Coubes C, Cytrynbaum C, Faivre L, Marion G, Horton R, Kotzot D, Lay-Son G, Lees M, Low K, Luk HM, Mark P, McConkie-Rosell A, McDonald M, Pappas J, Phillipe C, Shears D, Skotko B, Stewart F, Stewart H, Temple IK, Mau-Them FT, Verdugo RA, Weksberg R, Zarate YA, Graham JM, Tatton-Brown K. HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals. Am J Med Genet A. 2019 10; 179(10):2049-2055.
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Zarate YA, Boccuto L, Srikanth S, Pauly R, Ocal E, Balmakund T, Hinkle K, Stefans V, Schaefer GB, Collins RT. Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome. Am J Med Genet A. 2019 06; 179(6):1047-1052.
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Zweier M, Begemann A, McWalter K, Cho MT, Abela L, Banka S, Behring B, Berger A, Brown CW, Carneiro M, Chen J, Cooper GM, Finnila CR, Guillen Sacoto MJ, Henderson A, H?ffmeier U, Joset P, Kerr B, Lesca G, Leszinski GS, McDermott JH, Meltzer MR, Monaghan KG, Mostafavi R, ?unap K, Plecko B, Powis Z, Purcarin G, Reimand T, Riedhammer KM, Schreiber JM, Sirsi D, Wierenga KJ, Wojcik MH, Papuc SM, Steindl K, Sticht H, Rauch A. Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. Eur J Hum Genet. 2019 05; 27(5):747-759.
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Hiatt SM, Neu MB, Ramaker RC, Hardigan AA, Prokop JW, Hancarova M, Prchalova D, Havlovicova M, Prchal J, Stranecky V, Yim DKC, Powis Z, Keren B, Nava C, Mignot C, Rio M, Revah-Politi A, Hemati P, Stong N, Iglesias AD, Suchy SF, Willaert R, Wentzensen IM, Wheeler PG, Brick L, Kozenko M, Hurst ACE, Wheless JW, Lacassie Y, Myers RM, Barsh GS, Sedlacek Z, Cooper GM. De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. PLoS Genet. 2018 11; 14(11):e1007671.
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Olson HE, Jean-Mar?ais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, Moufawad El Achkar C, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ, Donadieu J, Narayanan V, Ramsey KM, Nava C, Rivi?re JB, Vitobello A, Tran Mau-Them F, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. Am J Hum Genet. 2018 05 03; 102(5):995-1007.
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Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J, Bosanko K, Kalsner L, Basinger A, Slavotinek AM, Perry H, Saenz M, Szybowska M, Wilson LC, Kumar A, Brain C, Balasubramanian M, Dubbs H, Ortiz-Gonzalez XR, Zackai E, Stein Q, Powell CM, Schrier Vergano S, Britt A, Sun A, Smith W, Bebin EM, Picker J, Kirby A, Pinz H, Bombei H, Mahida S, Cohen JS, Fatemi A, Vernon HJ, McClellan R, Fleming LR, Knyszek B, Steinraths M, Velasco Gonzalez C, Beck AE, Golden-Grant KL, Egense A, Parikh A, Raimondi C, Angle B, Allen W, Schott S, Algrabli A, Robin NH, Ray JW, Everman DB, Gambello MJ, Chung WK. Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. Am J Med Genet A. 2018 04; 176(4):925-935.
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Zarate YA, Bhoj E, Kaylor J, Li D, Tsurusaki Y, Miyake N, Matsumoto N, Phadke S, Escobar L, Irani A, Hakonarson H, Schrier Vergano SA. SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases. Am J Med Genet A. 2016 08; 170(8):1967-73.
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Schuurs-Hoeijmakers JH, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, Greville-Heygate S, Hanson-Kahn A, Bernstein JA, Glass J, Chitayat D, Burrow TA, Husami A, Collins K, Wusik K, van der Aa N, Kooy F, Brown KT, Gadzicki D, Kini U, Alvarez S, Fern?ndez-Ja?n A, McGehee F, Selby K, Tarailo-Graovac M, Van Allen M, van Karnebeek CD, Stavropoulos DJ, Marshall CR, Merico D, Gregor A, Zweier C, Hopkin RJ, Chu YW, Chung BH, de Vries BB, Devriendt K, Hurles ME, Brunner HG. Clinical delineation of the PACS1-related syndrome--Report on 19 patients. Am J Med Genet A. 2016 Mar; 170(3):670-5.
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Lam H, Dare S, Nguyen T, Austin T. Anesthesia for a pediatric patient with cardiofaciocutaneous syndrome. A A Case Rep. 2015 Apr 01; 4(7):95-6.
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Samanta D, Willis E. Electroencephalographic findings in KBG syndrome: a child with novel mutation in ANKRD11 gene. Acta Neurol Belg. 2015 Dec; 115(4):779-82.
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