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Journal Abstract Search

191 related items for PubMed ID: 32393365

  • 1. Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome.
    Eßinger C, Karch S, Moog U, Fekete G, Lengyel A, Pinti E, Eggermann T, Begemann M.
    Clin Epigenetics; 2020 May 11; 12(1):63. PubMed ID: 32393365
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  • 4. An 11p15 imprinting centre region 2 deletion in a family with Beckwith Wiedemann syndrome provides insights into imprinting control at CDKN1C.
    Algar E, Dagar V, Sebaj M, Pachter N.
    PLoS One; 2011 May 11; 6(12):e29034. PubMed ID: 22205991
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  • 5. Beckwith-Wiedemann syndrome with long QT caused by a deletion involving KCNQ1 but not KCNQ1OT1:TSS-DMR.
    Urakawa T, Ozawa J, Tanaka M, Narusawa H, Matsuoka K, Fukami M, Nagasaki K, Kagami M.
    Eur J Med Genet; 2023 Jan 11; 66(1):104671. PubMed ID: 36402267
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  • 7. Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment.
    Beygo J, Bürger J, Strom TM, Kaya S, Buiting K.
    Eur J Hum Genet; 2019 Jun 11; 27(6):903-908. PubMed ID: 30778172
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  • 10. Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting.
    Eggermann T, Kraft F, Lausberg E, Ergezinger K, Kunstmann E.
    J Med Genet; 2021 Mar 11; 58(3):173-176. PubMed ID: 32447323
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  • 12. Sequence and functional comparison in the Beckwith-Wiedemann region: implications for a novel imprinting centre and extended imprinting.
    Engemann S, Strödicke M, Paulsen M, Franck O, Reinhardt R, Lane N, Reik W, Walter J.
    Hum Mol Genet; 2000 Nov 01; 9(18):2691-706. PubMed ID: 11063728
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  • 13. Beckwith-Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene.
    Kaltenbach S, Capri Y, Rossignol S, Denjoy I, Soudée S, Aboura A, Baumann C, Verloes A.
    Clin Genet; 2013 Jul 01; 84(1):78-81. PubMed ID: 23061425
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  • 14. Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.
    Dagar V, Hutchison W, Muscat A, Krishnan A, Hoke D, Buckle A, Siswara P, Amor DJ, Mann J, Pinner J, Colley A, Wilson M, Sachdev R, McGillivray G, Edwards M, Kirk E, Collins F, Jones K, Taylor J, Hayes I, Thompson E, Barnett C, Haan E, Freckmann ML, Turner A, White S, Kamien B, Ma A, Mackenzie F, Baynam G, Kiraly-Borri C, Field M, Dudding-Byth T, Algar EM.
    Clin Epigenetics; 2018 Aug 30; 10(1):114. PubMed ID: 30165906
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  • 15. A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith-Wiedemann syndrome.
    Beygo J, Joksic I, Strom TM, Lüdecke HJ, Kolarova J, Siebert R, Mikovic Z, Horsthemke B, Buiting K.
    Eur J Hum Genet; 2016 Aug 30; 24(9):1280-6. PubMed ID: 26839037
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  • 16. Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.
    Lim D, Bowdin SC, Tee L, Kirby GA, Blair E, Fryer A, Lam W, Oley C, Cole T, Brueton LA, Reik W, Macdonald F, Maher ER.
    Hum Reprod; 2009 Mar 30; 24(3):741-7. PubMed ID: 19073614
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  • 17. Epigenetic mosaicism and cell burden in Beckwith-Wiedemann syndrome due to loss of methylation at imprinting control region 2.
    Duffy KA, Hathaway ER, Klein SD, Ganguly A, Kalish JM.
    Cold Spring Harb Mol Case Stud; 2021 Dec 30; 7(6):. PubMed ID: 34697083
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  • 18. Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome.
    Gaston V, Le Bouc Y, Soupre V, Burglen L, Donadieu J, Oro H, Audry G, Vazquez MP, Gicquel C.
    Eur J Hum Genet; 2001 Jun 30; 9(6):409-18. PubMed ID: 11436121
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