 Abnormalities, Multiple
"Abnormalities, Multiple" 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.
Congenital abnormalities that affect more than one organ or body structure.
| Descriptor ID |
D000015
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| MeSH Number(s) |
C16.131.077
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| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Abnormalities, Multiple".
Below are MeSH descriptors whose meaning is more specific than "Abnormalities, Multiple".
This graph shows the total number of publications written about "Abnormalities, Multiple" by people in this website by year, and whether "Abnormalities, Multiple" 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 |
|---|
| 1995 | 3 | 0 | 3 | | 1996 | 1 | 1 | 2 | | 1997 | 2 | 0 | 2 | | 1998 | 2 | 0 | 2 | | 1999 | 0 | 1 | 1 | | 2000 | 2 | 0 | 2 | | 2001 | 1 | 2 | 3 | | 2003 | 2 | 1 | 3 | | 2004 | 1 | 1 | 2 | | 2005 | 4 | 1 | 5 | | 2006 | 1 | 3 | 4 | | 2007 | 4 | 2 | 6 | | 2008 | 5 | 2 | 7 | | 2009 | 5 | 5 | 10 | | 2010 | 6 | 4 | 10 | | 2011 | 7 | 0 | 7 | | 2012 | 0 | 4 | 4 | | 2013 | 11 | 1 | 12 | | 2014 | 5 | 2 | 7 | | 2015 | 5 | 0 | 5 | | 2016 | 5 | 1 | 6 | | 2017 | 2 | 0 | 2 | | 2018 | 4 | 3 | 7 | | 2019 | 8 | 2 | 10 | | 2020 | 1 | 0 | 1 | | 2022 | 2 | 0 | 2 | | 2023 | 3 | 0 | 3 | | 2024 | 2 | 1 | 3 | | 2025 | 2 | 0 | 2 |
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Below are the most recent publications written about "Abnormalities, Multiple" by people in Profiles.
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Guillouet C, Agostini V, Baujat G, Cocciadiferro D, Pippucci T, Lesieur-Sebellin M, Georget M, Schatz U, Fauth C, Louie RJ, Rogers C, Davis JM, Konstantopoulou V, Mayr JA, Bouman A, Wilke M, VanNoy GE, England EM, Park KL, Brown K, Saenz M, Novelli A, Digilio MC, Mastromoro G, Rongioletti MCA, Piacentini G, Kaiyrzhanov R, Guliyeva S, Hasanova L, Shears D, Bhatnagar I, Stals K, Klaas O, Horvath J, Bouvagnet P, Witmer PD, MacCarrick G, Cisarova K, Good JM, Gorokhova S, Boute O, Smol T, Bruel AL, Patat O, Broadbent JR, Tan TY, Tan NB, Lyonnet S, Busa T, Graziano C, Amiel J, Gordon CT. Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations. Am J Hum Genet. 2025 Apr 03; 112(4):829-845.
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Curinha A, Huang Z, Anglen T, Strong MA, Gliech CR, Jewett CE, Friskes A, Phan TP, Nicholas Z, Holland AJ. Centriole structural integrity defects are a crucial feature of hydrolethalus syndrome. J Cell Biol. 2025 Apr 07; 224(4).
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Trask M, Yamaguchi JT, Redding G, Yaszay B, Browd S, White KK. Posterior Column Release and Lengthening with a Magnetic Growing Rod Construct in Severe Congenital Thoracic Fusion: A Report of 2 Cases. JBJS Case Connect. 2024 Oct 01; 14(4).
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Haghshenas S, Karimi K, Stevenson RE, Levy MA, Relator R, Kerkhof J, Rzasa J, McConkey H, Lauzon-Young C, Balci TB, White-Brown AM, Carter MT, Richer J, Armour CM, Sawyer SL, Bhola PT, Tedder ML, Skinner CD, van Rooij IALM, van de Putte R, de Blaauw I, Koeck RM, Hoischen A, Brunner H, Esteki MZ, Pelet A, Lyonnet S, Amiel J, Boycott KM, Sadikovic B. Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations. Am J Hum Genet. 2024 Aug 08; 111(8):1643-1655.
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Zhao J, Longo N, Lewis RG, Nicholas TJ, Boyden SE, Andrews A, Larson A, Bayrak-Toydemir P, Botto LD, Mao R. Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing. Am J Med Genet A. 2024 05; 194(5):e63516.
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Peluso F, Caraffi SG, Contr? G, Valeri L, Napoli M, Carboni G, Seth A, Zuntini R, Coccia E, Astrea G, Bisgaard AM, Ivanovski I, Maitz S, Brischoux-Boucher E, Carter MT, Dentici ML, Devriendt K, Bellini M, Digilio MC, Doja A, Dyment DA, Farholt S, Ferreira CR, Wolfe LA, Gahl WA, Gnazzo M, Goel H, Gr?nborg SW, Hammer T, Iughetti L, Kleefstra T, Koolen DA, Lepri FR, Lemire G, Louro P, McCullagh G, Madeo SF, Milone A, Milone R, Nielsen JEK, Novelli A, Ockeloen CW, Pascarella R, Pippucci T, Ricca I, Robertson SP, Sawyer S, Falkenberg Smeland M, Stegmann S, Stumpel CT, Goel A, Taylor JM, Barbuti D, Soresina A, Bedeschi MF, Battini R, Cavalli A, Fusco C, Iascone M, Van Maldergem L, Venkateswaran S, Zuffardi O, Vergano S, Garavelli L, Bayat A. Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature. J Med Genet. 2023 11 27; 60(12):1224-1234.
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Altassan R, Allers MM, De Graef D, Shah R, de Vries M, Larson A, Glamuzina E, Morava E. Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases. Mol Genet Metab. 2023 11; 140(3):107688.
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Wigby K, Hammer M, Tokita M, Patel P, Jones MC, Larson A, Bartolomei FV, Dykzeul N, Slavotinek A, Yip T, Bandres-Ciga S, Simpson BN, Suhrie K, Shankar S, Veith R, Bragg J, Powell C, Kingsmore SF, Dimmock D, Maron J, Davis J, Del Campo M. Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing. Am J Med Genet A. 2023 04; 191(4):930-940.
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White C, Milla SS, Maloney JA, Neuberger I. Imaging of Congenital Spine Malformations. Clin Perinatol. 2022 09; 49(3):623-640.
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Gracie S, Sengupta N, Ferreira C, Pemberton J, Anderson I, Wang X, Rhodes L, Brown K, Balla T, Larson A. De novo loss-of-function variant in PTDSS1 is associated with developmental delay. Am J Med Genet A. 2022 06; 188(6):1739-1745.
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