"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
|
MeSH Number(s) |
G05.380.554
|
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 |
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1996 | 0 | 1 | 1 |
2001 | 0 | 1 | 1 |
2002 | 0 | 1 | 1 |
2003 | 0 | 1 | 1 |
2005 | 0 | 1 | 1 |
2007 | 1 | 0 | 1 |
2009 | 1 | 4 | 5 |
2010 | 1 | 4 | 5 |
2011 | 0 | 1 | 1 |
2012 | 0 | 3 | 3 |
2013 | 0 | 7 | 7 |
2014 | 2 | 12 | 14 |
2015 | 2 | 4 | 6 |
2016 | 4 | 8 | 12 |
2017 | 0 | 8 | 8 |
2018 | 3 | 6 | 9 |
2019 | 0 | 6 | 6 |
2020 | 1 | 4 | 5 |
2021 | 0 | 7 | 7 |
2023 | 0 | 1 | 1 |
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Below are the most recent publications written about "Homozygote" by people in Profiles.
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Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort. J Neuromuscul Dis. 2023; 10(5):835-846.
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A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family. Genes (Basel). 2021 09 24; 12(10).
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Biallelic variants in YRDC cause a developmental disorder with progeroid features. Hum Genet. 2021 Dec; 140(12):1679-1693.
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A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family. Genes (Basel). 2021 08 21; 12(8).
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Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders. Am J Hum Genet. 2021 08 05; 108(8):1450-1465.
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An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families. Ann Hum Genet. 2021 09; 85(5):186-195.
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Homozygous nonsense mutation of WNT10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report. Pan Afr Med J. 2021; 39:21.
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Impaired complex I repair causes recessive Leber's hereditary optic neuropathy. J Clin Invest. 2021 03 15; 131(6).
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Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1. Eur J Hum Genet. 2021 03; 29(3):411-421.
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HMGA2 Variants in Silver-Russell Syndrome: Homozygous and Heterozygous Occurrence. J Clin Endocrinol Metab. 2020 07 01; 105(7).