"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.
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 Harvard Catalyst Profiles by year, and whether "Homozygote" was a major or minor topic of these publication.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1993 | 1 | 12 | 13 |
| 1994 | 1 | 19 | 20 |
| 1995 | 1 | 17 | 18 |
| 1996 | 1 | 30 | 31 |
| 1997 | 1 | 26 | 27 |
| 1998 | 2 | 27 | 29 |
| 1999 | 3 | 23 | 26 |
| 2000 | 4 | 20 | 24 |
| 2001 | 3 | 32 | 35 |
| 2002 | 0 | 37 | 37 |
| 2003 | 4 | 40 | 44 |
| 2004 | 1 | 39 | 40 |
| 2005 | 1 | 26 | 27 |
| 2006 | 1 | 27 | 28 |
| 2007 | 3 | 37 | 40 |
| 2008 | 4 | 54 | 58 |
| 2009 | 3 | 39 | 42 |
| 2010 | 4 | 32 | 36 |
| 2011 | 6 | 39 | 45 |
| 2012 | 5 | 34 | 39 |
| 2013 | 3 | 53 | 56 |
| 2014 | 4 | 38 | 42 |
| 2015 | 8 | 33 | 41 |
| 2016 | 5 | 48 | 53 |
| 2017 | 2 | 49 | 51 |
| 2018 | 3 | 28 | 31 |
| 2019 | 6 | 37 | 43 |
| 2020 | 9 | 43 | 52 |
| 2021 | 1 | 26 | 27 |
| 2022 | 0 | 18 | 18 |
| 2023 | 0 | 2 | 2 |
Below are the most recent publications written about "Homozygote" by people in Profiles.
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The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study design. BMJ Open. 2023 Mar 23; 13(3):e063605.
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Disease Burden of Spinal Muscular Atrophy: A Comparative Cohort Study Using Insurance Claims Data in the USA. J Neuromuscul Dis. 2023; 10(1):41-53.
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Calreticulin mutations affect its chaperone function and perturb the glycoproteome. Cell Rep. 2022 11 22; 41(8):111689.
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Expanded analysis of high-grade astrocytoma with piloid features identifies an epigenetically and clinically distinct subtype associated with neurofibromatosis type 1. Acta Neuropathol. 2023 01; 145(1):71-82.
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A novel homozygous variant in homologous recombination repair gene ZSWIM7 causes azoospermia in males and primary ovarian insufficiency in females. Eur J Med Genet. 2022 Nov; 65(11):104629.
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PMEL is mutated in oculocutaneous albinism. Hum Genet. 2023 Jan; 142(1):139-144.
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A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C >?T) variant of GALT. J Inherit Metab Dis. 2022 11; 45(6):1106-1117.
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Galactose epimerase deficiency: lessons from the GalNet registry. Orphanet J Rare Dis. 2022 09 02; 17(1):331.
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A Chromosome-Length Reference Genome for the Endangered Pacific Pocket Mouse Reveals Recent Inbreeding in a Historically Large Population. Genome Biol Evol. 2022 08 03; 14(8).
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Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome. Am J Med Genet A. 2022 10; 188(10):2932-2940.