 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.
No definition found.
| 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 |
|---|
| 2000 | 0 | 1 | 1 | | 2002 | 1 | 0 | 1 | | 2003 | 1 | 0 | 1 | | 2005 | 1 | 0 | 1 | | 2007 | 1 | 0 | 1 | | 2008 | 2 | 0 | 2 | | 2009 | 1 | 0 | 1 | | 2010 | 1 | 1 | 2 | | 2011 | 0 | 1 | 1 | | 2012 | 1 | 0 | 1 | | 2013 | 2 | 1 | 3 | | 2014 | 1 | 0 | 1 | | 2015 | 4 | 0 | 4 | | 2016 | 1 | 3 | 4 | | 2017 | 3 | 1 | 4 | | 2018 | 4 | 0 | 4 | | 2019 | 2 | 0 | 2 | | 2020 | 1 | 0 | 1 | | 2021 | 2 | 0 | 2 | | 2022 | 2 | 0 | 2 | | 2023 | 3 | 0 | 3 | | 2025 | 1 | 0 | 1 |
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Below are the most recent publications written about "Abnormalities, Multiple" by people in Profiles.
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Duis J, Agresta L, Bennett WE, Chambers H, Clarke A, Fairhurst C, Hoover-Fong J, Murphy F, Noritz G, Schwantes S, Shreve M, Thusang K, Weidemann D, Beale R, Mehta A, Wilhelmsen A, Summerfield N. International Expert Opinion on Standard of Care for Patients With Schinzel-Giedion Syndrome: A Modified Delphi Study. Am J Med Genet A. 2025 Jun; 197(6):e64015.
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Bosch E, Popp B, G?se E, Skinner C, van der Sluijs PJ, Maystadt I, Pinto AM, Renieri A, Bruno LP, Granata S, Marcelis C, Baysal ?, Hartwich D, Holth?fer L, Isidor B, Cogne B, Wieczorek D, Capra V, Scala M, De Marco P, Ognibene M, Jamra RA, Platzer K, Carter LB, Kuismin O, van Haeringen A, Maroofian R, Valenzuela I, Cusc? I, Martinez-Agosto JA, Rabani AM, Mefford HC, Pereira EM, Close C, Anyane-Yeboa K, Wagner M, Hannibal MC, Zacher P, Thiffault I, Beunders G, Umair M, Bhola PT, McGinnis E, Millichap J, van de Kamp JM, Prijoles EJ, Dobson A, Shillington A, Graham BH, Garcia EJ, Galindo MK, Ropers FG, Nibbeling EAR, Hubbard G, Karimov C, Goj G, Bend R, Rath J, Morrow MM, Millan F, Salpietro V, Torella A, Nigro V, Kurki M, Stevenson RE, Santen GWE, Zweier M, Campeau PM, Severino M, Reis A, Accogli A, Vasileiou G. Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals. Genet Med. 2023 11; 25(11):100950.
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Ganapathi M, Matsuoka LS, March M, Li D, Brokamp E, Benito-Sanz S, White SM, Lachlan K, Ahimaz P, Sewda A, Bastarache L, Thomas-Wilson A, Stoler JM, Bramswig NC, Baptista J, Stals K, Demurger F, Cogne B, Isidor B, Bedeschi MF, Peron A, Amiel J, Zackai E, Schacht JP, Iglesias AD, Morton J, Schmetz A, Seidel V, Lucia S, Baskin SM, Thiffault I, Cogan JD, Gordon CT, Chung WK, Bowdin S, Bhoj E. Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays. Eur J Hum Genet. 2023 10; 31(10):1117-1124.
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Amudhavalli SM, Paolillo V, Lawson C, Patterson M, Kussmann J, Nopper AJ, Lypka M, Saunders C. Novel blended SNRPE-related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia. Am J Med Genet A. 2023 05; 191(5):1425-1429.
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Hankey PB, Ghulmiyyah J, Yeh HW, Tracy M, Arganbright J. Airway anomalies in patients with 22q11.2 deletion syndrome: A scoping review. Int J Pediatr Otorhinolaryngol. 2022 Dec; 163:111373.
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Meoded A, Kukreja M, Orman G, Boltshauser E, Huisman TAGM. Reply to "Comment: Another Piece of the Puzzle of Anomalous Connectivity in Joubert's Syndrome". Neuropediatrics. 2022 08; 53(4):306-307.
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Bartik LE, Hughes SS, Tracy M, Feldt MM, Zhang L, Arganbright J, Kaye A. 22q11.2 duplications: Expanding the clinical presentation. Am J Med Genet A. 2022 03; 188(3):779-787.
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Meoded A, Kukreja M, Orman G, Boltshauser E, Huisman TAGM. Another Piece of the Puzzle of Anomalous Connectivity in Joubert's Syndrome. Neuropediatrics. 2022 06; 53(3):195-199.
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Choufani S, Gibson WT, Turinsky AL, Chung BHY, Wang T, Garg K, Vitriolo A, Cohen ASA, Cyrus S, Goodman S, Chater-Diehl E, Brzezinski J, Brudno M, Ming LH, White SM, Lynch SA, Clericuzio C, Temple IK, Flinter F, McConnell V, Cushing T, Bird LM, Splitt M, Kerr B, Scherer SW, Machado J, Imagawa E, Okamoto N, Matsumoto N, Testa G, Iascone M, Tenconi R, Caluseriu O, Mendoza-Londono R, Chitayat D, Cytrynbaum C, Tatton-Brown K, Weksberg R. DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes. Am J Hum Genet. 2020 05 07; 106(5):596-610.
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Patak J, Gilfert J, Byler M, Neerukonda V, Thiffault I, Cross L, Amudhavalli S, Pacio-Miguez M, Palomares-Bralo M, Garcia-Minaur S, Santos-Simarro F, Powis Z, Alcaraz W, Tang S, Jurgens J, Barry B, England E, Engle E, Hess J, Lebel RR. MAGEL2-related disorders: A study and case series. Clin Genet. 2019 12; 96(6):493-505.
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