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165 related items for PubMed ID: 20051989

  • 1. Differential decay of parent-of-origin-specific genomic sharing in cystic fibrosis-affected sib pairs maps a paternally imprinted locus to 7q34.
    Stanke F, Davenport C, Hedtfeld S, Tümmler B.
    Eur J Hum Genet; 2010 May; 18(5):553-9. PubMed ID: 20051989
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  • 2. Genes in the vicinity of CFTR modulate the cystic fibrosis phenotype in highly concordant or discordant F508del homozygous sib pairs.
    Mekus F, Laabs U, Veeze H, Tümmler B.
    Hum Genet; 2003 Jan; 112(1):1-11. PubMed ID: 12483292
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  • 3. An association study on contrasting cystic fibrosis endophenotypes recognizes KRT8 but not KRT18 as a modifier of cystic fibrosis disease severity and CFTR mediated residual chloride secretion.
    Stanke F, Hedtfeld S, Becker T, Tümmler B.
    BMC Med Genet; 2011 May 06; 12():62. PubMed ID: 21548936
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  • 4. Hierarchical fine mapping of the cystic fibrosis modifier locus on 19q13 identifies an association with two elements near the genes CEACAM3 and CEACAM6.
    Stanke F, Becker T, Hedtfeld S, Tamm S, Wienker TF, Tümmler B.
    Hum Genet; 2010 Apr 06; 127(4):383-94. PubMed ID: 20047061
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  • 6. Categories of deltaF508 homozygous cystic fibrosis twin and sibling pairs with distinct phenotypic characteristics.
    Mekus F, Ballmann M, Bronsveld I, Bijman J, Veeze H, Tümmler B.
    Twin Res; 2000 Dec 06; 3(4):277-93. PubMed ID: 11463149
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  • 7. Impact of the genome on the epigenome is manifested in DNA methylation patterns of imprinted regions in monozygotic and dizygotic twins.
    Coolen MW, Statham AL, Qu W, Campbell MJ, Henders AK, Montgomery GW, Martin NG, Clark SJ.
    PLoS One; 2011 Dec 06; 6(10):e25590. PubMed ID: 21991322
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  • 9. Parental origin of sequence variants associated with complex diseases.
    Kong A, Steinthorsdottir V, Masson G, Thorleifsson G, Sulem P, Besenbacher S, Jonasdottir A, Sigurdsson A, Kristinsson KT, Jonasdottir A, Frigge ML, Gylfason A, Olason PI, Gudjonsson SA, Sverrisson S, Stacey SN, Sigurgeirsson B, Benediktsdottir KR, Sigurdsson H, Jonsson T, Benediktsson R, Olafsson JH, Johannsson OT, Hreidarsson AB, Sigurdsson G, DIAGRAM Consortium, Ferguson-Smith AC, Gudbjartsson DF, Thorsteinsdottir U, Stefansson K.
    Nature; 2009 Dec 17; 462(7275):868-74. PubMed ID: 20016592
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  • 10. Methylation screening of reciprocal genome-wide UPDs identifies novel human-specific imprinted genes.
    Nakabayashi K, Trujillo AM, Tayama C, Camprubi C, Yoshida W, Lapunzina P, Sanchez A, Soejima H, Aburatani H, Nagae G, Ogata T, Hata K, Monk D.
    Hum Mol Genet; 2011 Aug 15; 20(16):3188-97. PubMed ID: 21593219
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  • 15. Genetic information from discordant sibling pairs points to ESRP2 as a candidate trans-acting regulator of the CF modifier gene SCNN1B.
    Becker T, Pich A, Tamm S, Hedtfeld S, Ibrahim M, Altmüller J, Dalibor N, Toliat MR, Janciauskiene S, Tümmler B, Stanke F.
    Sci Rep; 2020 Dec 31; 10(1):22447. PubMed ID: 33384439
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  • 16. Expression levels of FAS are regulated through an evolutionary conserved element in intron 2, which modulates cystic fibrosis disease severity.
    Kumar V, Becker T, Jansen S, van Barneveld A, Boztug K, Wölfl S, Tümmler B, Stanke F.
    Genes Immun; 2008 Dec 31; 9(8):689-96. PubMed ID: 18685642
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  • 18. Analysis of CA/GT microsatellite polymorphism in IVS8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a study of Italian CF families.
    Restagno G, Garnerone S, Gennaro C, Ferrone M, Carbonara A.
    Clin Genet; 1992 Dec 31; 42(6):309-13. PubMed ID: 1283566
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  • 20. [Analysis of the spectra of mutations and polymorphic loci of cystic fibrosis transmembrane conductance regulator in the population of Bashkortostan].
    Korytina GF, Viktorova TV, Baĭkova GV, Khusnutdinova EK.
    Genetika; 2002 Sep 31; 38(9):1270-5. PubMed ID: 12391889
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