 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
|
| MeSH Number(s) |
G05.380.554
|
| Concept/Terms |
|
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 | 2 | 5 | 7 | | 2015 | 2 | 8 | 10 | | 2016 | 1 | 9 | 10 | | 2017 | 1 | 5 | 6 | | 2018 | 0 | 3 | 3 | | 2019 | 1 | 4 | 5 |
To return to the timeline, click here.
Below are the most recent publications written about "Homozygote" by people in Profiles.
-
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.
-
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.
-
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.
-
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.
-
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.
-
Konjikusic MJ, Yeetong P, Boswell CW, Lee C, Roberson EC, Ittiwut R, Suphapeetiporn K, Ciruna B, Gurnett CA, Wallingford JB, Shotelersuk V, Gray RS. Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development. PLoS Genet. 2018 11; 14(11):e1007817.
-
Shalata A, Lauhasurayotin S, Leibovitz Z, Li H, Hebert D, Dhanraj S, Hadid Y, Mahroum M, Bajar J, Egenburg S, Arad A, Shohat M, Haddad S, Bakry H, Moshiri H, Scherer SW, Tzur S, Dror Y. Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood. J Med Genet. 2019 05; 56(5):340-346.
-
Shabanova I, Cohen E, Cada M, Vincent A, Cohn RD, Dror Y. ERCC6L2-associated inherited bone marrow failure syndrome. Mol Genet Genomic Med. 2018 05; 6(3):463-468.
-
Hogarth KA, Costford SR, Yoon G, Sondheimer N, Maynes JT. DNM1L Variant Alters Baseline Mitochondrial Function and Response to Stress in a Patient with Severe Neurological Dysfunction. Biochem Genet. 2018 Apr; 56(1-2):56-77.
-
Jin SC, Homsy J, Zaidi S, Lu Q, Morton S, DePalma SR, Zeng X, Qi H, Chang W, Sierant MC, Hung WC, Haider S, Zhang J, Knight J, Bjornson RD, Castaldi C, Tikhonoa IR, Bilguvar K, Mane SM, Sanders SJ, Mital S, Russell MW, Gaynor JW, Deanfield J, Giardini A, Porter GA, Srivastava D, Lo CW, Shen Y, Watkins WS, Yandell M, Yost HJ, Tristani-Firouzi M, Newburger JW, Roberts AE, Kim R, Zhao H, Kaltman JR, Goldmuntz E, Chung WK, Seidman JG, Gelb BD, Seidman CE, Lifton RP, Brueckner M. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet. 2017 Nov; 49(11):1593-1601.
|
People  People who have written about this concept. _
Similar Concepts
People who have written about this concept.
_
Top Journals
Top journals in which articles about this concept have been published.
|