Below are the most recent publications written about "Penetrance" by people in Profiles.
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Szeri F, Miko A, Navasiolava N, Kaposi A, Verschuere S, Molnar B, Li Q, Terry SF, Boraldi F, Uitto J, van de Wetering K, Martin L, Quaglino D, Vanakker OM, Tory K, Aranyi T. The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals. Hum Mutat. 2022 12; 43(12):1872-1881.
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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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Prakash SK, Crenshaw ML, Backeljauw PF, Silberbach M, Scurlock C, Culin DD, Ranallo KC, Lin AE. 45,X mosaicism in a population-based biobank: implications for Turner syndrome. Genet Med. 2019 08; 21(8):1882-1883.
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Chou CM, Nelson C, Tarl? SA, Pribila JT, Bardakjian T, Woods S, Schneider A, Glaser T. Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease. Cell. 2015 Apr 23; 161(3):634-646.
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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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Hall MJ, Forman AD, Pilarski R, Wiesner G, Giri VN. Gene panel testing for inherited cancer risk. J Natl Compr Canc Netw. 2014 Sep; 12(9):1339-46.
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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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Gouya L, Muzeau F, Robreau AM, Letteron P, Couchi E, Lyoumi S, Deybach JC, Puy H, Fleming R, Demant P, Beaumont C, Grandchamp B. Genetic study of variation in normal mouse iron homeostasis reveals ceruloplasmin as an HFE-hemochromatosis modifier gene. Gastroenterology. 2007 Feb; 132(2):679-86.
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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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Wachtel SS, Somkuti SG, Schinfeld JS. Monozygotic twins of opposite sex. Cytogenet Cell Genet. 2000; 91(1-4):293-5.