 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 |
|---|
| 1983 | 0 | 1 | 1 | | 1984 | 0 | 1 | 1 | | 1987 | 1 | 1 | 2 | | 1989 | 0 | 1 | 1 | | 1990 | 1 | 0 | 1 | | 1992 | 3 | 0 | 3 | | 1993 | 2 | 4 | 6 | | 1994 | 4 | 0 | 4 | | 1995 | 4 | 0 | 4 | | 1996 | 4 | 1 | 5 | | 1997 | 1 | 0 | 1 | | 1998 | 5 | 0 | 5 | | 1999 | 6 | 4 | 10 | | 2000 | 4 | 3 | 7 | | 2001 | 7 | 2 | 9 | | 2002 | 8 | 3 | 11 | | 2003 | 6 | 1 | 7 | | 2004 | 6 | 5 | 11 | | 2005 | 15 | 4 | 19 | | 2006 | 11 | 5 | 16 | | 2007 | 10 | 6 | 16 | | 2008 | 7 | 1 | 8 | | 2009 | 13 | 7 | 20 | | 2010 | 5 | 3 | 8 | | 2011 | 4 | 2 | 6 | | 2012 | 8 | 4 | 12 | | 2013 | 7 | 5 | 12 | | 2014 | 5 | 0 | 5 | | 2015 | 7 | 3 | 10 | | 2016 | 5 | 1 | 6 | | 2017 | 4 | 3 | 7 | | 2018 | 8 | 1 | 9 | | 2019 | 4 | 0 | 4 | | 2020 | 6 | 1 | 7 | | 2021 | 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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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, Õunap K, Reinson K, Pajusalu S, van Haeringen A, Ruivenkamp C, Cuperus R, Santos-Simarro F, Palomares-Bralo M, Pacio-Míguez M, Ritter A, Bhoj E, Tønne 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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Martin EMMA, Enriquez A, Sparrow DB, Humphreys DT, McInerney-Leo AM, Leo PJ, Duncan EL, Iyer KR, Greasby JA, Ip E, Giannoulatou E, Sheng D, Wohler E, Dimartino C, Amiel J, Capri Y, Lehalle D, Mory A, Wilnai Y, Lebenthal Y, Gharavi AG, Krzemien GG, Miklaszewska M, Steiner RD, Raggio C, Blank R, Baris Feldman H, Milo Rasouly H, Sobreira NLM, Jobling R, Gordon CT, Giampietro PF, Dunwoodie SL, Chapman G. Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice. Hum Mol Genet. 2020 12 04; 29(22):3662-3678.
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Li C, Vandersluis S, Holubowich C, Ungar WJ, Goh ES, Boycott KM, Sikich N, Dhalla I, Ng V. Cost-effectiveness of genome-wide sequencing for unexplained developmental disabilities and multiple congenital anomalies. Genet Med. 2021 03; 23(3):451-460.
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Kent OA, Saha M, Coyaud E, Burston HE, Law N, Dadson K, Chen S, Laurent EM, St-Germain J, Sun RX, Matsumoto Y, Cowen J, Montgomery-Song A, Brown KR, Ishak C, Rose J, De Carvalho DD, He HH, Raught B, Billia F, Kannu P, Rottapel R. Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genes. Nat Commun. 2020 09 16; 11(1):4673.
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Alkhunaizi E, Unger S, Shannon P, Nishimura G, Blaser S, Chitayat D. Maternal SLE and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo RAF1 and SIX2 variants. Am J Med Genet A. 2020 07; 182(7):1807-1811.
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Rohringer TJ, Ng VL, Amaral JG, Parra DA. Embolization of congenital portosystemic shunt presenting after pediatric liver transplantation: Case report and literature review. Pediatr Transplant. 2020 08; 24(5):e13713.
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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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Wolter NE, Kennedy AA, Rutter MJ, Matava C, Honjo O, Chiu PL, Propst EJ. Diagnosis and management of complete tracheal rings with concurrent tracheoesophageal fistula. Int J Pediatr Otorhinolaryngol. 2020 Jun; 133:109971.
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Gupta A, Sanville J, Menz T, Warner N, Muise AM, Fiedler K, Martín MG, Padbury J, Phornphutkul C, Sanchez-Esteban J, Cerezo CS. Application of Whole Exome Sequencing in Congenital Secretory Diarrhea Diagnosis. J Pediatr Gastroenterol Nutr. 2019 Jun; 68(6):e106-e108.
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Berauer JP, Mezina AI, Okou DT, Sabo A, Muzny DM, Gibbs RA, Hegde MR, Chopra P, Cutler DJ, Perlmutter DH, Bull LN, Thompson RJ, Loomes KM, Spinner NB, Rajagopalan R, Guthery SL, Moore B, Yandell M, Harpavat S, Magee JC, Kamath BM, Molleston JP, Bezerra JA, Murray KF, Alonso EM, Rosenthal P, Squires RH, Wang KS, Finegold MJ, Russo P, Sherker AH, Sokol RJ, Karpen SJ. Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome. Hepatology. 2019 09; 70(3):899-910.
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