 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 this website 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 |
|---|
| 1981 | 0 | 1 | 1 | | 1983 | 0 | 1 | 1 | | 1985 | 0 | 3 | 3 | | 1986 | 0 | 1 | 1 | | 1988 | 1 | 1 | 2 | | 1990 | 0 | 2 | 2 | | 1992 | 0 | 1 | 1 | | 1993 | 1 | 1 | 2 | | 1994 | 0 | 1 | 1 | | 1995 | 0 | 4 | 4 | | 1996 | 0 | 3 | 3 | | 1997 | 0 | 6 | 6 | | 1998 | 1 | 5 | 6 | | 1999 | 0 | 2 | 2 | | 2000 | 0 | 3 | 3 | | 2002 | 0 | 5 | 5 | | 2003 | 0 | 3 | 3 | | 2004 | 2 | 2 | 4 | | 2005 | 0 | 7 | 7 | | 2006 | 0 | 4 | 4 | | 2007 | 0 | 3 | 3 | | 2008 | 1 | 8 | 9 | | 2009 | 0 | 5 | 5 | | 2010 | 1 | 7 | 8 | | 2011 | 0 | 9 | 9 | | 2012 | 0 | 5 | 5 | | 2013 | 0 | 6 | 6 | | 2014 | 1 | 5 | 6 | | 2015 | 2 | 8 | 10 | | 2016 | 1 | 9 | 10 | | 2017 | 1 | 5 | 6 | | 2018 | 0 | 4 | 4 | | 2019 | 1 | 4 | 5 | | 2020 | 0 | 4 | 4 | | 2021 | 0 | 1 | 1 |
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Below are the most recent publications written about "Homozygote" by people in Profiles.
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Ni M, Afroze B, Xing C, Pan C, Shao Y, Cai L, Cantarel BL, Pei J, Grishin NV, Hewson S, Knight D, Mahida S, Michel D, Tarnopolsky M, Poduri A, Rotenberg A, Sondheimer N, DeBerardinis RJ. A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy. Genet Med. 2021 05; 23(5):900-908.
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Roifman M, Niles KM, MacNeil L, Blaser S, Noor A, Godoy R, van Mieghem T, Ryan G, Seaward G, Sondheimer N, Mercimek-Andrews S, Schulze A, Hewson S, Ovadia A, Chitayat D, Morgen EK, Hojilla C, Kolomietz E, Watkins N, Häberle J, Shannon P. Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency. Clin Genet. 2020 12; 98(6):613-619.
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Mandola AB, Sharfe N, Nagdi Z, Dadi H, Vong L, Merico D, Ngan B, Reid B, Roifman CM. Combined immunodeficiency caused by a novel homozygous NFKB1 mutation. J Allergy Clin Immunol. 2021 02; 147(2):727-733.e2.
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Grudzinska Pechhacker MK, Di Scipio M, Vig A, Tumber A, Roslin N, Tavares E, Vincent A, Hèon E. CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency. Ophthalmic Genet. 2020 10; 41(5):457-464.
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Enikanolaiye A, Ruston J, Zeng R, Taylor C, Schrock M, Buchovecky CM, Shendure J, Acar E, Justice MJ. Suppressor mutations in Mecp2-null mice implicate the DNA damage response in Rett syndrome pathology. Genome Res. 2020 04; 30(4):540-552.
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Verbeeten KC, Lamhonwah AM, Bulman D, Faghfoury H, Chakraborty P, Tein I, Geraghty MT. Carnitine uptake defect due to a 5'UTR mutation in a pedigree with false positives and false negatives on Newborn screening. Mol Genet Metab. 2020 03; 129(3):213-218.
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Mitani T, Punetha J, Akalin I, Pehlivan D, Dawidziuk M, Coban Akdemir Z, Yilmaz S, Aslan E, Hunter JV, Hijazi H, Grochowski CM, Jhangiani SN, Karaca E, Fatih JM, Iwanowski P, Gambin T, Wlasienko P, Goszczanska-Ciuchta A, Bekiesinska-Figatowska M, Hosseini M, Arzhangi S, Najmabadi H, Rosenfeld JA, Du H, Marafi D, Blaser S, Teitelbaum R, Silver R, Posey JE, Ropers HH, Gibbs RA, Wiszniewski W, Lupski JR, Chitayat D, Kahrizi K, Gawlinski P. Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. Am J Hum Genet. 2019 11 07; 105(5):1005-1015.
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Alkhunaizi E, Shuster S, Shannon P, Siu VM, Darilek S, Mohila CA, Boissel S, Ellezam B, Fallet-Bianco C, Laberge AM, Zandberg J, Injeyan M, Hazrati LN, Hamdan F, Chitayat D. Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum. . 2019 03; 179(3):386-396.
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Nimmo GAM, Venkatesh S, Pandey AK, Marshall CR, Hazrati LN, Blaser S, Ahmed S, Cameron J, Singh K, Ray PN, Suzuki CK, Yoon G. Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy. Hum Mol Genet. 2019 01 15; 28(2):290-306.
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Brown NJ, Bhatia K, Teague J, White SM, Lo P, Challis J, Beshay V, Sullivan M, Malkin D, Hansford JR. Report of a bi-allelic truncating germline mutation in TP53. Fam Cancer. 2019 01; 18(1):101-104.
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