 Hand Deformities, Congenital
"Hand Deformities, Congenital" 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.
Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.
| Descriptor ID |
D006228
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| MeSH Number(s) |
C05.390.408 C05.660.585.988.425 C16.131.621.585.425
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| Concept/Terms |
Hand Deformities, Congenital- Hand Deformities, Congenital
- Congenital Hand Deformity
- Deformity, Congenital Hand
- Hand Deformity, Congenital
- Congenital Hand Deformities
- Deformities, Congenital Hand
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Below are MeSH descriptors whose meaning is more general than "Hand Deformities, Congenital".
Below are MeSH descriptors whose meaning is more specific than "Hand Deformities, Congenital".
This graph shows the total number of publications written about "Hand Deformities, Congenital" by people in this website by year, and whether "Hand Deformities, Congenital" 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 |
|---|
| 1983 | 0 | 1 | 1 | | 1986 | 0 | 1 | 1 | | 1989 | 0 | 1 | 1 | | 1991 | 1 | 0 | 1 | | 1997 | 1 | 0 | 1 | | 1999 | 0 | 1 | 1 | | 2000 | 1 | 0 | 1 | | 2004 | 1 | 0 | 1 | | 2005 | 1 | 0 | 1 | | 2014 | 1 | 0 | 1 | | 2016 | 1 | 1 | 2 | | 2017 | 1 | 0 | 1 | | 2018 | 1 | 0 | 1 |
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Below are the most recent publications written about "Hand Deformities, Congenital" by people in Profiles.
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Smigiel R, Biernacka A, Biela M, Murcia-Pienkowski V, Szmida E, Gasperowicz P, Kosinska J, Kostrzewa G, Koppolu AA, Walczak A, Wawrzuta D, Rydzanicz M, Sasiadek M, Ploski R. Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome. J Hum Genet. 2018 Apr; 63(4):517-520.
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Xue Q, Yang JF, Li B, He TC, Zhang BQ. [Regulatory effect of faciogenital dysplasia 6 gene on hepatic stem cell differentiation]. Zhonghua Gan Zang Bing Za Zhi. 2017 Apr 20; 25(4):268-272.
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Franke M, Ibrahim DM, Andrey G, Schwarzer W, Heinrich V, Schöpflin R, Kraft K, Kempfer R, Jerkovic I, Chan WL, Spielmann M, Timmermann B, Wittler L, Kurth I, Cambiaso P, Zuffardi O, Houge G, Lambie L, Brancati F, Pombo A, Vingron M, Spitz F, Mundlos S. Formation of new chromatin domains determines pathogenicity of genomic duplications. Nature. 2016 Oct 13; 538(7624):265-269.
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Cohen AS, Yap DB, Lewis ME, Chijiwa C, Ramos-Arroyo MA, Tkachenko N, Milano V, Fradin M, McKinnon ML, Townsend KN, Xu J, Van Allen MI, Ross CJ, Dobyns WB, Weaver DD, Gibson WT. Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro. Hum Mutat. 2016 Mar; 37(3):301-7.
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Weaver KN, El Hallek M, Hopkin RJ, Sund KL, Henrickson M, Del Gaudio D, Yuksel A, Acar GO, Bober MB, Kim J, Boyadjiev SA. Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis. Am J Med Genet A. 2014 Apr; 164A(4):1062-8.
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McDermott DA, Bressan MC, He J, Lee JS, Aftimos S, Brueckner M, Gilbert F, Graham GE, Hannibal MC, Innis JW, Pierpont ME, Raas-Rothschild A, Shanske AL, Smith WE, Spencer RH, St John-Sutton MG, van Maldergem L, Waggoner DJ, Weber M, Basson CT. TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. Pediatr Res. 2005 Nov; 58(5):981-6.
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Innis JW, Mortlock D, Chen Z, Ludwig M, Williams ME, Williams TM, Doyle CD, Shao Z, Glynn M, Mikulic D, Lehmann K, Mundlos S, Utsch B. Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model. Hum Mol Genet. 2004 Nov 15; 13(22):2841-51.
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Piersall LD, Dowton SB, McAlister WH, Waggoner DJ. Vertebral anomalies in a new family with ODED syndrome. Clin Genet. 2000 Jun; 57(6):444-8.
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Waggoner DJ, Ciske DJ, Dowton SB, Watson MS. Deletion of 1q in a patient with acrofacial dysostosis. Am J Med Genet. 1999 Feb 12; 82(4):301-4.
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Chitayat D, Grix A, Balfe JW, Abramowicz JS, Garza J, Fong CT, Silver MM, Saller DN, Bresnick GH, Giedion A, Lachman RS, Rimoin DL. Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two families. Am J Med Genet. 1997 Dec 19; 73(3):279-85.
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