 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 UAMS Profiles 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 |
|---|
| 2024 | 1 | 2 | 3 | | 2021 | 1 | 0 | 1 | | 2020 | 2 | 0 | 2 | | 2019 | 3 | 4 | 7 | | 2018 | 2 | 2 | 4 | | 2017 | 1 | 1 | 2 | | 2016 | 3 | 2 | 5 | | 2015 | 3 | 1 | 4 | | 2014 | 5 | 0 | 5 | | 2013 | 5 | 0 | 5 | | 2012 | 5 | 2 | 7 | | 2011 | 0 | 3 | 3 | | 2010 | 2 | 2 | 4 | | 2008 | 1 | 2 | 3 | | 2007 | 5 | 1 | 6 | | 2006 | 2 | 2 | 4 | | 2005 | 2 | 0 | 2 | | 2004 | 5 | 0 | 5 | | 2003 | 1 | 1 | 2 | | 2002 | 0 | 1 | 1 | | 2000 | 1 | 0 | 1 | | 1999 | 1 | 0 | 1 | | 1998 | 1 | 0 | 1 | | 1997 | 1 | 0 | 1 | | 1996 | 2 | 0 | 2 | | 1995 | 2 | 0 | 2 | | 1993 | 0 | 1 | 1 | | 1992 | 1 | 0 | 1 | | 1990 | 1 | 0 | 1 |
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Below are the most recent publications written about "Abnormalities, Multiple" by people in Profiles over the past ten years.
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Krishnan V, Jaganathan S, Jayappa S, Glasier C, Choudhary A, Ramakrishnaiah R, Murphy J. Clinical and radiological evaluation of caudal regression syndrome. Pediatr Radiol. 2024 08; 54(9):1451-1461.
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Metry D, Copp HL, Rialon KL, Iacobas I, Baselga E, Dobyns WB, Drolet B, Frieden IJ, Garzon M, Haggstrom A, Hanson D, Hollenbach L, Keppler-Noreuil KM, Maheshwari M, Siegel DH, Waseem S, Dias M. Delphi Consensus on Diagnostic Criteria for LUMBAR Syndrome. J Pediatr. 2024 Sep; 272:114101.
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Wayhelova M, Vallova V, Broz P, Mikulasova A, Smetana J, Dynkova Filkova H, Machackova D, Handzusova K, Gaillyova R, Kuglik P. Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders. Orphanet J Rare Dis. 2024 Feb 06; 19(1):41.
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Inskeep KA, Zarate YA, Monteil D, Spranger J, Doherty D, Stottmann RW, Weaver KN. Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies. Am J Med Genet A. 2022 01; 188(1):104-115.
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Said SM, Marey G, Joy B, Griselli M. Off-Pump "Clamp and Sew" Extracardiac Fontan With Inverted Bifurcated Graft for Dextrocardia With Heterotaxy Syndrome. World J Pediatr Congenit Heart Surg. 2020 09; 11(5):636-640.
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Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, Troyer C, Kant SG, Lee Y, Ishak GE, Leung G, Barone Pritchard A, Yang S, Bend EG, Filippini F, Roadhouse C, Lebrun N, Mehaffey MG, Martin PM, Apple B, Millan F, Puk O, Hoffer MJV, Henderson LB, McGowan R, Wentzensen IM, Pei S, Zahir FR, Yu M, Gibson WT, Seman A, Steeves M, Murrell JR, Luettgen S, Francisco E, Strom TM, Amlie-Wolf L, Kaindl AM, Wilson WG, Halbach S, Basel-Salmon L, Lev-El N, Denecke J, Vissers LELM, Radtke K, Chelly J, Zackai E, Friedman JM, Bamshad MJ, Nickerson DA, Reid RR, Devriendt K, Chae JH, Stolerman E, McDougall C, Powis Z, Bienvenu T, Tan TY, Orenstein N, Dobyns WB, Shieh JT, Choi M, Waggoner D, Gripp KW, Parker MJ, Stoler J, Lyonnet S, Cormier-Daire V, Viskochil D, Hoffman TL, Amiel J, Chung BHY, Gordon CT. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain. 2020 01 01; 143(1):55-68.
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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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Stallings EB, Isenburg JL, Short TD, Heinke D, Kirby RS, Romitti PA, Canfield MA, O'Leary LA, Liberman RF, Forestieri NE, Nembhard WN, Sandidge T, Nestoridi E, Salemi JL, Nance AE, Duckett K, Ramirez GM, Shan X, Shi J, Lupo PJ. Population-based birth defects data in the United States, 2012-2016: A focus on abdominal wall defects. Birth Defects Res. 2019 11 01; 111(18):1436-1447.
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Cotton AP, Gokarakonda S, Caffrey AR, Zarate YA, Kumar N. Behavioral phenotype and sleep problems in SATB2-associated syndrome. Dev Med Child Neurol. 2020 07; 62(7):827-832.
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Thomason A, Pankey E, Nutt B, Caffrey AR, Zarate YA. Speech, language, and feeding phenotypes of SATB2-associated syndrome. Clin Genet. 2019 12; 96(6):485-492.
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Harada Y, Ramakrishnaiah R, Arya K, Samanta D. Extensive reversible myelopathy secondary to acute quadriventricular noncommunicating hydrocephalus. Childs Nerv Syst. 2019 11; 35(11):2023-2026.
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Rajab TK, Kim T, Keller S, Mallidi H. Management of a young patient with dextrocardia, atrial septal defect, and Eisenmenger syndrome with venous-venous extracorporeal membrane oxygenation and heart-lung transplantation. J Card Surg. 2019 Oct; 34(10):1114-1116.
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Mathews CS, Bumpass DB, McCullough FL, McCarthy RE. Expansion Thoracoplasty as a Life-Saving Procedure in an Adolescent With Severe Spinal Deformity and Sacral Agenesis. Spine Deform. 2019 01; 7(1):171-175.
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Golinko MS, Pemberton JD, Phillips J, Johnson A, Hartzell LD. The Arkansas Tessier Number 3 Cleft Experience: Soft Tissue and Skeletal Findings With Primary Surgical Management: Four-Step Approach. J Craniofac Surg. 2018 Oct; 29(7):1834-1841.
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Worley ML, Patel KG, Kilpatrick LA. Cleft Lip and Palate. Clin Perinatol. 2018 12; 45(4):661-678.
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Au PYB, Goedhart C, Ferguson M, Breckpot J, Devriendt K, Wierenga K, Fanning E, Grange DK, Graham GE, Galarreta C, Jones MC, Kini U, Stewart H, Parboosingh JS, Kline AD, Innes AM. Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature. Eur J Hum Genet. 2018 09; 26(9):1272-1281.
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Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J, Bosanko K, Kalsner L, Basinger A, Slavotinek AM, Perry H, Saenz M, Szybowska M, Wilson LC, Kumar A, Brain C, Balasubramanian M, Dubbs H, Ortiz-Gonzalez XR, Zackai E, Stein Q, Powell CM, Schrier Vergano S, Britt A, Sun A, Smith W, Bebin EM, Picker J, Kirby A, Pinz H, Bombei H, Mahida S, Cohen JS, Fatemi A, Vernon HJ, McClellan R, Fleming LR, Knyszek B, Steinraths M, Velasco Gonzalez C, Beck AE, Golden-Grant KL, Egense A, Parikh A, Raimondi C, Angle B, Allen W, Schott S, Algrabli A, Robin NH, Ray JW, Everman DB, Gambello MJ, Chung WK. Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. Am J Med Genet A. 2018 04; 176(4):925-935.
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Hassed S, Li S, Mulvihill J, Aston C, Palmer S. Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. Am J Med Genet A. 2017 Mar; 173(3):790-800.
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Wineland A, Menezes MD, Shimony JS, Shinawi MS, Hullar TE, Hirose K. Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome. JAMA Otolaryngol Head Neck Surg. 2017 02 01; 143(2):168-177.
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Zarate YA, Fish JL. SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations. Am J Med Genet A. 2017 Feb; 173(2):327-337.
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Tas E, Sebastian J, Madan-Khetarpal S, Sweet P, Yatsenko AN, Pollock N, Rajkovic A, Schneck FX, Yatsenko SA, Witchel SF. Familial deletion of the HOXA gene cluster associated with Hand-Foot-Genital syndrome and phenotypic variability. Am J Med Genet A. 2017 Jan; 173(1):221-224.
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Zarate YA, Bhoj E, Kaylor J, Li D, Tsurusaki Y, Miyake N, Matsumoto N, Phadke S, Escobar L, Irani A, Hakonarson H, Schrier Vergano SA. SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases. Am J Med Genet A. 2016 08; 170(8):1967-73.
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Alsoufi B, Schlosser B, McCracken C, Kogon B, Kanter K, Border W, Sachdeva R. Current Outcomes of Surgical Management of?Aortopulmonary Window and Associated Cardiac Lesions. Ann Thorac Surg. 2016 Aug; 102(2):608-14.
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Schuurs-Hoeijmakers JH, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, Greville-Heygate S, Hanson-Kahn A, Bernstein JA, Glass J, Chitayat D, Burrow TA, Husami A, Collins K, Wusik K, van der Aa N, Kooy F, Brown KT, Gadzicki D, Kini U, Alvarez S, Fern?ndez-Ja?n A, McGehee F, Selby K, Tarailo-Graovac M, Van Allen M, van Karnebeek CD, Stavropoulos DJ, Marshall CR, Merico D, Gregor A, Zweier C, Hopkin RJ, Chu YW, Chung BH, de Vries BB, Devriendt K, Hurles ME, Brunner HG. Clinical delineation of the PACS1-related syndrome--Report on 19 patients. Am J Med Genet A. 2016 Mar; 170(3):670-5.
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Swota A, Lew CD, Hester DM. What Is a Parent to Do?: The Case of Baby G. Perspect Biol Med. 2016; 58(3):320-1.
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Tanaka AJ, Cho MT, Millan F, Juusola J, Retterer K, Joshi C, Niyazov D, Garnica A, Gratz E, Deardorff M, Wilkins A, Ortiz-Gonzalez X, Mathews K, Panzer K, Brilstra E, van Gassen KL, Volker-Touw CM, van Binsbergen E, Sobreira N, Hamosh A, McKnight D, Monaghan KG, Chung WK. Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. Am J Hum Genet. 2015 Sep 03; 97(3):457-64.
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