 Homozygote
"Homozygote" 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.
An individual in which both alleles at a given locus are identical.
| Descriptor ID |
D006720
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| MeSH Number(s) |
G05.380.554
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| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Homozygote".
Below are MeSH descriptors whose meaning is more specific than "Homozygote".
This graph shows the total number of publications written about "Homozygote" by people in UAMS Profiles by year, and whether "Homozygote" 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 |
|---|
| 2023 | 0 | 2 | 2 | | 2022 | 0 | 1 | 1 | | 2021 | 0 | 1 | 1 | | 2020 | 0 | 1 | 1 | | 2019 | 0 | 2 | 2 | | 2018 | 0 | 3 | 3 | | 2017 | 0 | 2 | 2 | | 2016 | 0 | 1 | 1 | | 2014 | 1 | 1 | 2 | | 2013 | 1 | 4 | 5 | | 2012 | 1 | 2 | 3 | | 2010 | 1 | 0 | 1 | | 2009 | 0 | 2 | 2 | | 2008 | 0 | 2 | 2 | | 2004 | 2 | 1 | 3 | | 2003 | 0 | 4 | 4 | | 2001 | 0 | 5 | 5 | | 2000 | 0 | 2 | 2 | | 1997 | 1 | 0 | 1 | | 1995 | 0 | 1 | 1 | | 1994 | 0 | 1 | 1 | | 1993 | 0 | 1 | 1 |
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Below are the most recent publications written about "Homozygote" by people in Profiles over the past ten years.
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Saxena D, Tiwari AK, Prasad R, Srivastav S. Resolving fetal hydrops - A rare entity. Eur J Med Genet. 2023 Dec; 66(12):104888.
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Sok P, Sabo A, Almli LM, Jenkins MM, Nembhard WN, Agopian AJ, Bamshad MJ, Blue EE, Brody LC, Brown AL, Browne ML, Canfield MA, Carmichael SL, Chong JX, Dugan-Perez S, Feldkamp ML, Finnell RH, Gibbs RA, Kay DM, Lei Y, Meng Q, Moore CA, Mullikin JC, Muzny D, Olshan AF, Pangilinan F, Reefhuis J, Romitti PA, Schraw JM, Shaw GM, Werler MM, Harpavat S, Lupo PJ. Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants. Am J Med Genet A. 2023 06; 191(6):1546-1556.
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Govindarajan S, Khandelwal P, Sharma S, Agarwala A, Sinha A, Hari P, Bagga A. Clinical Features and Genetic Sequencing of Children with Fanconi-Bickel Syndrome. Indian J Pediatr. 2023 02; 90(2):178-180.
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Da Vi? MC, Dietrich O, Truger M, Arampatzi P, Duell J, Heidemeier A, Zhou X, Danhof S, Kraus S, Chatterjee M, Meggendorfer M, Twardziok S, Goebeler ME, Topp MS, Hudecek M, Prommersberger S, Hege K, Kaiser S, Fuhr V, Weinhold N, Rosenwald A, Erhard F, Haferlach C, Einsele H, Kort?m KM, Saliba AE, Rasche L. Homozygous BCMA gene deletion in response to anti-BCMA CAR T cells in a patient with multiple myeloma. Nat Med. 2021 04; 27(4):616-619.
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Khalifa OA, Imtiaz F, Ramzan K, Zaki O, Gamal R, Elbaik L, Rihan S, Salam E, Abdul-Mawgoud R, Hassan M, Hassan N, Saleh E, Seoudi D, Moustafa AS. Genotype-phenotype correlation of 33 patients with maple syrup urine disease. Am J Med Genet A. 2020 11; 182(11):2486-2500.
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Wanchai V, Jin J, Bircan E, Eng C, Orloff M. Genome-wide tracts of homozygosity and exome analyses reveal repetitive elements with Barrets esophagus/esophageal adenocarcinoma risk. BMC Bioinformatics. 2019 Mar 14; 20(Suppl 2):98.
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Sharkia R, Wierenga KJ, Kessel A, Azem A, Bertini E, Carrozzo R, Torraco A, Goffrini P, Ceccatelli Berti C, McCormick ME, Plecko B, Klein A, Abela L, Hengel H, Sch?ls L, Shalev S, Khayat M, Mahajnah M, Spiegel R. Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome. J Inherit Metab Dis. 2019 03; 42(2):264-275.
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Silverstein S, Veerapandiyan A, Hayes-Rosen C, Ming X, Kornitzer J. A novel intronic homozygous mutation in the AMT gene of a patient with nonketotic hyperglycinemia and hyperammonemia. Metab Brain Dis. 2019 02; 34(1):373-376.
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Kumar A, Asghar S, Kavanagh R, Wicklund MP. Unique presentation of rapidly fluctuating symptoms in a child with congenital myasthenic syndrome due to RAPSN mutation. Muscle Nerve. 2018 10; 58(4):E23-E24.
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Larsen CP, Bonsib SM, Beggs ML, Wilson JD. Fluorescence in situ hybridization for the diagnosis of NPHP1 deletion-related nephronophthisis on renal biopsy. Hum Pathol. 2018 11; 81:71-77.
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Randolph AG, Yip WK, Allen EK, Rosenberger CM, Agan AA, Ash SA, Zhang Y, Bhangale TR, Finkelstein D, Cvijanovich NZ, Mourani PM, Hall MW, Su HC, Thomas PG. Evaluation of IFITM3 rs12252 Association With Severe Pediatric Influenza Infection. J Infect Dis. 2017 07 01; 216(1):14-21.
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Shah RK, Munson M, Wierenga KJ, Pokala HR, Newburger PE, Crawford D. A novel homozygous VPS45 p.P468L mutation leading to severe congenital neutropenia with myelofibrosis. Pediatr Blood Cancer. 2017 Sep; 64(9).
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Alfadhel M, Nashabat M, Qahtani HA, Alfares A, Mutairi FA, Shaalan HA, Douglas GV, Wierenga K, Juusola J, Alrifai MT, Arold ST, Alkuraya F, Ali QA. Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans. Hum Genet. 2016 Nov; 135(11):1263-1268.
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