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 |
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1993 | 1 | 1 | 2 | 1994 | 3 | 2 | 5 | 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 | 2 | 3 | 2005 | 5 | 2 | 7 | 2006 | 1 | 3 | 4 | 2007 | 4 | 2 | 6 | 2008 | 6 | 1 | 7 | 2009 | 5 | 5 | 10 | 2010 | 6 | 4 | 10 | 2011 | 6 | 0 | 6 | 2012 | 0 | 3 | 3 | 2013 | 11 | 2 | 13 | 2014 | 5 | 2 | 7 | 2015 | 5 | 0 | 5 | 2016 | 4 | 1 | 5 | 2017 | 1 | 0 | 1 | 2018 | 4 | 3 | 7 | 2019 | 8 | 2 | 10 | 2020 | 1 | 0 | 1 | 2021 | 1 | 0 | 1 | 2022 | 2 | 0 | 2 | 2023 | 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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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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Mitovic N, Maksimovic S, Puflovic D, Kovacevic S, Lopicic S, Todorovic J, Spasic S, Dincic M, Ostojic JN. Cadmium significantly changes major morphometrical points and cardiovascular functional parameters during early development of zebrafish. Environ Toxicol Pharmacol. 2021 Oct; 87:103723.
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Matthews HS, Palmer RL, Baynam GS, Quarrell OW, Klein OD, Spritz RA, Hennekam RC, Walsh S, Shriver M, Weinberg SM, Hallgrimsson B, Hammond P, Penington AJ, Peeters H, Claes PD. Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism. Sci Rep. 2021 06 09; 11(1):12175.
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Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI, van Binsbergen E, de Geus CM, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk A, Folk L, Wentzensen IM, Yang H, Zou F, Millan F, Person R, Xie Y, Liu S, Ousager LB, Larsen M, Schultz-Rogers L, Morava E, Klee EW, Berry IR, Campbell J, Lindstrom K, Pruniski B, Neumeyer AM, Radley JA, Phornphutkul C, Schmidt B, Wilson WG, ?unap K, Reinson K, Pajusalu S, van Haeringen A, Ruivenkamp C, Cuperus R, Santos-Simarro F, Palomares-Bralo M, Pacio-M?guez M, Ritter A, Bhoj E, T?nne E, Tveten K, Cappuccio G, Brunetti-Pierri N, Rowe L, Bunn J, Saenz M, Platzer K, Mertens M, Caluseriu O, Nowaczyk MJM, Cohn RD, Kannu P, Alkhunaizi E, Chitayat D, Scherer SW, Brunner HG, Vissers LELM, Kleefstra T, Koolen DA, Weksberg R. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature. Am J Hum Genet. 2021 06 03; 108(6):1053-1068.
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Ashokkumar D, Zhang Q, Much C, Bledau AS, Naumann R, Alexopoulou D, Dahl A, Goveas N, Fu J, Anastassiadis K, Stewart AF, Kranz A. MLL4 is required after implantation, whereas MLL3 becomes essential during late gestation. Development. 2020 06 17; 147(12).
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Kuczynski AM, Wallace CJ, Wada R, Tyler KL, Kapadia RK. Crossed Zoster Syndrome: A Rare Clinical Presentation Following Herpes Zoster Ophthalmicus. Can J Neurol Sci. 2020 09; 47(5):711-713.
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Assia Batzir N, Kishor Bhagwat P, Larson A, Coban Akdemir Z, Baglaj M, Bofferding L, Bosanko KB, Bouassida S, Callewaert B, Cannon A, Enchautegui Colon Y, Garnica AD, Harr MH, Heck S, Hurst ACE, Jhangiani SN, Isidor B, Littlejohn RO, Liu P, Magoulas P, Mar Fan H, Marom R, McLean S, Nezarati MM, Nugent KM, Petersen MB, Rocha ML, Roeder E, Smigiel R, Tully I, Weisfeld-Adams J, Wells KO, Posey JE, Lupski JR, Beaudet AL, Wangler MF. Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat. 2020 03; 41(3):641-654.
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Ferrer A, Schultz-Rogers L, Kaiwar C, Kemppainen JL, Klee EW, Gavrilova RH. Three rare disease diagnoses in one patient through exome sequencing. Cold Spring Harb Mol Case Stud. 2019 12; 5(6).
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