Below are the most recent publications written about "Penetrance" by people in Profiles.
-
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.
-
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.
-
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.
-
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.
-
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.
-
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.
-
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.
-
Finch N, Carrasquillo MM, Baker M, Rutherford NJ, Coppola G, Dejesus-Hernandez M, Crook R, Hunter T, Ghidoni R, Benussi L, Crook J, Finger E, Hantanpaa KJ, Karydas AM, Sengdy P, Gonzalez J, Seeley WW, Johnson N, Beach TG, Mesulam M, Forloni G, Kertesz A, Knopman DS, Uitti R, White CL, Caselli R, Lippa C, Bigio EH, Wszolek ZK, Binetti G, Mackenzie IR, Miller BL, Boeve BF, Younkin SG, Dickson DW, Petersen RC, Graff-Radford NR, Geschwind DH, Rademakers R. TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers. Neurology. 2011 Feb 01; 76(5):467-74.
-
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.
-
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.