 Agenesis of Corpus Callosum
"Agenesis of Corpus Callosum" 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.
Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.
| Descriptor ID |
D061085
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| MeSH Number(s) |
C10.500.034 C16.131.666.034 C23.300.008
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| Concept/Terms |
Agenesis of Corpus Callosum- Agenesis of Corpus Callosum
- Corpus Callosum Ageneses
- Corpus Callosum, Agenesis Of
- Corpus Callosum Dysgenesis
- Corpus Callosum Dysgeneses
- Dysgeneses, Corpus Callosum
- Dysgenesis, Corpus Callosum
- Absence of Corpus Callosum
- Corpus Callosum Absence
- Corpus Callosum Absences
- Corpus Callosum Agenesis
- Ageneses, Corpus Callosum
- Agenesis, Corpus Callosum
- Corpus Callosum Hypogenesis
- Corpus Callosum Hypogeneses
- Hypogeneses, Corpus Callosum
- Hypogenesis, Corpus Callosum
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Below are MeSH descriptors whose meaning is more general than "Agenesis of Corpus Callosum".
Below are MeSH descriptors whose meaning is more specific than "Agenesis of Corpus Callosum".
This graph shows the total number of publications written about "Agenesis of Corpus Callosum" by people in this website by year, and whether "Agenesis of Corpus Callosum" 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 |
|---|
| 1994 | 2 | 0 | 2 | | 1996 | 1 | 0 | 1 | | 2003 | 1 | 0 | 1 | | 2004 | 0 | 1 | 1 | | 2006 | 0 | 1 | 1 | | 2008 | 1 | 0 | 1 | | 2011 | 0 | 1 | 1 | | 2012 | 0 | 1 | 1 | | 2013 | 0 | 1 | 1 | | 2017 | 0 | 1 | 1 | | 2018 | 1 | 0 | 1 |
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Below are the most recent publications written about "Agenesis of Corpus Callosum" by people in Profiles.
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Tripathy R, Leca I, van Dijk T, Weiss J, van Bon BW, Sergaki MC, Gstrein T, Breuss M, Tian G, Bahi-Buisson N, Paciorkowski AR, Pagnamenta AT, Wenninger-Weinzierl A, Martinez-Reza MF, Landler L, Lise S, Taylor JC, Terrone G, Vitiello G, Del Giudice E, Brunetti-Pierri N, D'Amico A, Reymond A, Voisin N, Bernstein JA, Farrelly E, Kini U, Leonard TA, Valence S, Burglen L, Armstrong L, Hiatt SM, Cooper GM, Aldinger KA, Dobyns WB, Mirzaa G, Pierson TM, Baas F, Chelly J, Cowan NJ, Keays DA. Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. Neuron. 2018 12 19; 100(6):1354-1368.e5.
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Bramswig NC, L?decke HJ, Hamdan FF, Altm?ller J, Beleggia F, Elcioglu NH, Freyer C, Gerkes EH, Demirkol YK, Knupp KG, Kuechler A, Li Y, Lowenstein DH, Michaud JL, Park K, Stegmann APA, Veenstra-Knol HE, Wieland T, Wollnik B, Engels H, Strom TM, Kleefstra T, Wieczorek D. Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. Hum Genet. 2017 07; 136(7):821-834.
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Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, K?lker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain. 2016 Mar; 139(Pt 3):765-81.
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Lai F, Orom UA, Cesaroni M, Beringer M, Taatjes DJ, Blobel GA, Shiekhattar R. Activating RNAs associate with Mediator to enhance chromatin architecture and transcription. Nature. 2013 Feb 28; 494(7438):497-501.
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Choe Y, Siegenthaler JA, Pleasure SJ. A cascade of morphogenic signaling initiated by the meninges controls corpus callosum formation. Neuron. 2012 Feb 23; 73(4):698-712.
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McCabe MJ, Gaston-Massuet C, Tziaferi V, Gregory LC, Alatzoglou KS, Signore M, Puelles E, Gerrelli D, Farooqi IS, Raza J, Walker J, Kavanaugh SI, Tsai PS, Pitteloud N, Martinez-Barbera JP, Dattani MT. Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction. J Clin Endocrinol Metab. 2011 Oct; 96(10):E1709-18.
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Callen PW, Callen AL, Glenn OA, Toi A. Columns of the fornix, not to be mistaken for the cavum septi pellucidi on prenatal sonography. J Ultrasound Med. 2008 Jan; 27(1):25-31.
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Lee KK, de Repentigny Y, Saulnier R, Rippstein P, Macklin WB, Kothary R. Dominant-negative beta1 integrin mice have region-specific myelin defects accompanied by alterations in MAPK activity. Glia. 2006 Jun; 53(8):836-44.
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Hoover-Fong JE, Shah S, Van Hove JL, Applegarth D, Toone J, Hamosh A. Natural history of nonketotic hyperglycinemia in 65 patients. Neurology. 2004 Nov 23; 63(10):1847-53.
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Toriello HV, Carey JC, Addor MC, Allen W, Burke L, Chun N, Dobyns W, Elias E, Gallagher R, Hordijk R, Hoyme G, Irons M, Jewett T, LeMerrer M, Lubinsky M, Martin R, McDonald-McGinn D, Neumann L, Newman W, Pauli R, Seaver L, Tsai A, Wargowsky D, Williams M, Zackai E. Toriello-Carey syndrome: delineation and review. Am J Med Genet A. 2003 Nov 15; 123A(1):84-90.
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