"Penetrance" 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.
The percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From Glossary of Genetics, 5th ed)
| Descriptor ID |
D019683
|
| MeSH Number(s) |
G05.420.655 G05.695.650
|
| Concept/Terms |
|
Below are MeSH descriptors whose meaning is more general than "Penetrance".
Below are MeSH descriptors whose meaning is more specific than "Penetrance".
This graph shows the total number of publications written about "Penetrance" by people in this website by year, and whether "Penetrance" 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 |
|---|
| 2000 | 0 | 1 | 1 |
| 2001 | 0 | 1 | 1 |
| 2003 | 1 | 0 | 1 |
| 2009 | 1 | 0 | 1 |
| 2010 | 0 | 2 | 2 |
| 2011 | 1 | 0 | 1 |
| 2015 | 0 | 1 | 1 |
| 2019 | 0 | 1 | 1 |
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click here.
Below are the most recent publications written about "Penetrance" by people in Profiles.
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Scott NL, Tran KD, Russell JF, Hinkle JW, Cernichiaro-Espinosa LA, Lauer A, Berrocal AM. A Novel Pathogenic Variant in NDP Gene With Incomplete Penetrance Manifests as X-Linked Familial Exudative Vitreoretinopathy. Ophthalmic Surg Lasers Imaging Retina. 2019 02 01; 50(2):120-124.
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Zhang L, Lai YH, Capasso JE, Han S, Levin AV. Early onset ectopia lentis due to a FBN1 mutation with non-penetrance. Am J Med Genet A. 2015 Jun; 167(6):1365-8.
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Feldman GJ, Peters CL, Erickson JA, Hozack BA, Jaraha R, Parvizi J. Variable expression and incomplete penetrance of developmental dysplasia of the hip: clinical challenge in a 71-member multigeneration family. J Arthroplasty. 2012 Apr; 27(4):527-32.
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Yasuda T, Mundy C, Kinumatsu T, Shibukawa Y, Shibutani T, Grobe K, Minugh-Purvis N, Pacifici M, Koyama E. Sulfotransferase Ndst1 is needed for mandibular and TMJ development. J Dent Res. 2010 Oct; 89(10):1111-6.
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Kim JH, Choi DH, Cho DY, Ahn SH, Son BH, Haffty BG. PALB2 mutations 1592delT and 229delT are not present in Korean breast cancer patients negative for BRCA1 and BRCA2 mutations. Breast Cancer Res Treat. 2010 Jul; 122(1):303-6.
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Brown SJ, Relton CL, Liao H, Zhao Y, Sandilands A, McLean WH, Cordell HJ, Reynolds NJ. Filaggrin haploinsufficiency is highly penetrant and is associated with increased severity of eczema: further delineation of the skin phenotype in a prospective epidemiological study of 792 school children. Br J Dermatol. 2009 Oct; 161(4):884-9.
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Udar N, Yelchits S, Chalukya M, Yellore V, Nusinowitz S, Silva-Garcia R, Vrabec T, Hussles Maumenee I, Donoso L, Small KW. Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance. Hum Mutat. 2003 Feb; 21(2):170-1.
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Aksentijevich I, Galon J, Soares M, Mansfield E, Hull K, Oh HH, Goldbach-Mansky R, Dean J, Athreya B, Reginato AJ, Henrickson M, Pons-Estel B, O'Shea JJ, Kastner DL. The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. Am J Hum Genet. 2001 Aug; 69(2):301-14.
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Wachtel SS, Somkuti SG, Schinfeld JS. Monozygotic twins of opposite sex. Cytogenet Cell Genet. 2000; 91(1-4):293-5.