 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 | 5 | 1 | 6 | | 2006 | 1 | 3 | 4 | | 2007 | 4 | 1 | 5 | | 2008 | 5 | 2 | 7 | | 2009 | 5 | 5 | 10 | | 2010 | 6 | 4 | 10 | | 2011 | 7 | 0 | 7 | | 2012 | 1 | 4 | 5 | | 2013 | 11 | 1 | 12 | | 2014 | 5 | 2 | 7 | | 2015 | 5 | 0 | 5 | | 2016 | 5 | 1 | 6 | | 2017 | 3 | 1 | 4 | | 2018 | 3 | 3 | 6 | | 2019 | 7 | 2 | 9 | | 2020 | 1 | 0 | 1 | | 2022 | 2 | 1 | 3 | | 2023 | 3 | 1 | 4 | | 2024 | 3 | 1 | 4 | | 2025 | 5 | 1 | 6 |
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Below are the most recent publications written about "Abnormalities, Multiple" by people in Profiles.
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Rosenberg S, Hutchens K, Roth LP, Beaty L, Vemulakonda VM, Alaniz VI. Screening Practices for Müllerian Anomalies in Patients With Known Renal or Urologic Anomalies: A Retrospective Chart Review. J Pediatr Surg. 2025 Sep; 60(9):162393.
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Strong A, McKenna C, Stals K, Vitobello A, Renaud M, Rieubland C, Guipponi M, Philippe C, Vrana P, Gaskell A, Innes AM, Rippert AL, Ahrens-Nicklas R, Bhoj E, Keller K, Chaudhari BP, Stone BS. Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay. Am J Med Genet A. 2025 Oct; 197(10):e64119.
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Breithaupt JJ, Fraser C, Leahy R, Mejak B, Burkett D, Albertz M, Kim J, Stone ML. Surgical Management of a Patient With Non-Fallot-Type Absent Pulmonary Valve Syndrome. World J Pediatr Congenit Heart Surg. 2025 Sep; 16(5):694-696.
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Yamazaki S, Kaneko S, Shimbo A, Irabu H, Ogino R, Miyamoto T, Izawa K, Segawa Y, Kakizaki J, Mori M, Shimizu M. Overlapping Aicardi-Goutières and Singleton-Merten syndromes with a heterozygous gain-of-function mutation in IFIH1 mimicking juvenile idiopathic arthritis. Immunol Med. 2025 Sep; 48(3):256-260.
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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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Karimi K, Weis D, Aukrust I, Hsieh TC, Horackova M, Paulsen J, Mendoza Londono R, Dupuis L, Dickson M, Lesman H, Lau T, Murphy D, Hama Salih K, Al-Musawi BMS, Al-Obaidi RGY, Rydzanicz M, Biela M, Santos MS, Aldeeri A, Gazda HT, Pais L, Shril S, Døllner H, Bartakke S, Laccone F, Soltysova A, Kitzler T, Soliman NA, Relator R, Levy MA, Kerkhof J, Rzasa J, Houlden H, Pilshofer GV, Jobst-Schwan T, Hildebrandt F, Sousa SB, Maroofian R, Yu TW, Krawitz P, Sadikovic B, Douzgou Houge S. Epigenomic and phenotypic characterization of DEGCAGS syndrome. Eur J Hum Genet. 2024 Dec; 32(12):1574-1582.
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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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