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Page 1
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene.
Hilgert N, Huentelman MJ, Thorburn AQ, Fransen E, Dieltjens N, Mueller-Malesinska M, Pollak A, Skorka A, Waligora J, Ploski R, Castorina P, Primignani P, Ambrosetti U, Murgia A, Orzan E, Pandya A, Arnos K, Norris V, Seeman P, Janousek P, Feldmann D, Marlin S, Denoyelle F, Nishimura CJ, Janecke A, Nekahm-Heis D, Martini A, Mennucci E, Tóth T, Sziklai I, Del Castillo I, Moreno F, Petersen MB, Iliadou V, Tekin M, Incesulu A, Nowakowska E, Bal J, Van de Heyning P, Roux AF, Blanchet C, Goizet C, Lancelot G, Fialho G, Caria H, Liu XZ, Xiaomei O, Govaerts P, Grønskov K, Hostmark K, Frei K, Dhooge I, Vlaeminck S, Kunstmann E, Van Laer L, Smith RJ, Van Camp G. Hilgert N, et al. Among authors: skorka a. Eur J Hum Genet. 2009 Apr;17(4):517-24. doi: 10.1038/ejhg.2008.201. Epub 2008 Nov 5. Eur J Hum Genet. 2009. PMID: 18985073 Free PMC article.
MTHFR 677T is a strong determinant of the degree of hearing loss among Polish males with postlingual sensorineural hearing impairment.
Pollak A, Mueller-Malesinska M, Lechowicz U, Skorka A, Korniszewski L, Sobczyk-Kopciol A, Waskiewicz A, Broda G, Iwanicka-Pronicka K, Oldak M, Skarzynski H, Płoski R. Pollak A, et al. Among authors: skorka a. DNA Cell Biol. 2012 Jul;31(7):1267-73. doi: 10.1089/dna.2012.1607. Epub 2012 Mar 16. DNA Cell Biol. 2012. PMID: 22424391 Free PMC article.
Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotype.
Iwanicka-Pronicka K, Pollak A, Skórka A, Lechowicz U, Pajdowska M, Furmanek M, Rzeski M, Korniszewski L, Skarżyński H, Płoski R. Iwanicka-Pronicka K, et al. Among authors: skorka a. PLoS One. 2012;7(10):e44054. doi: 10.1371/journal.pone.0044054. Epub 2012 Oct 25. PLoS One. 2012. PMID: 23133508 Free PMC article.
Fibular aplasia with ectrodactyly--broadening the clinical spectrum.
Gieruszczak-Bialek D, Oldak M, Skorka A, Waligora J, Korniszewski L. Gieruszczak-Bialek D, et al. Among authors: skorka a. Eur J Med Genet. 2006 Jan-Feb;49(1):83-6. doi: 10.1016/j.ejmg.2005.04.019. Epub 2005 Jun 20. Eur J Med Genet. 2006. PMID: 16473314
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