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Journal Abstract Search

306 related items for PubMed ID: 30165906

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases.
    Bedeschi MF, Calvello M, Paganini L, Pezzani L, Baccarin M, Fontana L, Sirchia SM, Guerneri S, Canazza L, Leva E, Colombo L, Lalatta F, Mosca F, Tabano S, Miozzo M.
    BMC Med Genet; 2017 Oct 18; 18(1):115. PubMed ID: 29047350
    [Abstract] [Full Text] [Related]

  • 3. 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 18; 66(1):104671. PubMed ID: 36402267
    [Abstract] [Full Text] [Related]

  • 4. Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.
    Engel JR, Smallwood A, Harper A, Higgins MJ, Oshimura M, Reik W, Schofield PN, Maher ER.
    J Med Genet; 2000 Dec 18; 37(12):921-6. PubMed ID: 11106355
    [Abstract] [Full Text] [Related]

  • 5. Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance.
    Fontana L, Tabano S, Maitz S, Colapietro P, Garzia E, Gerli AG, Sirchia SM, Miozzo M.
    Int J Mol Sci; 2021 Mar 26; 22(7):. PubMed ID: 33810554
    [Abstract] [Full Text] [Related]

  • 6. 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 26; 27(6):903-908. PubMed ID: 30778172
    [Abstract] [Full Text] [Related]

  • 7. The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region.
    Rossignol S, Steunou V, Chalas C, Kerjean A, Rigolet M, Viegas-Pequignot E, Jouannet P, Le Bouc Y, Gicquel C.
    J Med Genet; 2006 Dec 26; 43(12):902-7. PubMed ID: 16825435
    [Abstract] [Full Text] [Related]

  • 8. Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1.
    Weksberg R, Nishikawa J, Caluseriu O, Fei YL, Shuman C, Wei C, Steele L, Cameron J, Smith A, Ambus I, Li M, Ray PN, Sadowski P, Squire J.
    Hum Mol Genet; 2001 Dec 15; 10(26):2989-3000. PubMed ID: 11751681
    [Abstract] [Full Text] [Related]

  • 9. Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS.
    Bliek J, Maas SM, Ruijter JM, Hennekam RC, Alders M, Westerveld A, Mannens MM.
    Hum Mol Genet; 2001 Mar 01; 10(5):467-76. PubMed ID: 11181570
    [Abstract] [Full Text] [Related]

  • 10. Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.
    Tenorio J, Romanelli V, Martin-Trujillo A, Fernández GM, Segovia M, Perandones C, Pérez Jurado LA, Esteller M, Fraga M, Arias P, Gordo G, Dapía I, Mena R, Palomares M, Pérez de Nanclares G, Nevado J, García-Miñaur S, Santos-Simarro F, Martinez-Glez V, Vallespín E, SOGRI Consortium, Monk D, Lapunzina P.
    Am J Med Genet A; 2016 Oct 01; 170(10):2740-9. PubMed ID: 27480579
    [Abstract] [Full Text] [Related]

  • 11. 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 01; 58(3):173-176. PubMed ID: 32447323
    [Abstract] [Full Text] [Related]

  • 12. A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith-Wiedemann and Temple syndromes.
    Grosvenor SE, Davies JH, Lever M, Sillibourne J, Mackay DJG, Temple IK.
    Am J Med Genet A; 2022 Jun 01; 188(6):1896-1903. PubMed ID: 35266280
    [Abstract] [Full Text] [Related]

  • 13. Beckwith-Wiedemann syndrome.
    Choufani S, Shuman C, Weksberg R.
    Am J Med Genet C Semin Med Genet; 2010 Aug 15; 154C(3):343-54. PubMed ID: 20803657
    [Abstract] [Full Text] [Related]

  • 14. Imprinting disruption of the CDKN1C/KCNQ1OT1 domain: the molecular mechanisms causing Beckwith-Wiedemann syndrome and cancer.
    Higashimoto K, Soejima H, Saito T, Okumura K, Mukai T.
    Cytogenet Genome Res; 2006 Aug 15; 113(1-4):306-12. PubMed ID: 16575194
    [Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. 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 11; 7(6):. PubMed ID: 34697083
    [Abstract] [Full Text] [Related]

  • 17. The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases.
    Chiesa N, De Crescenzo A, Mishra K, Perone L, Carella M, Palumbo O, Mussa A, Sparago A, Cerrato F, Russo S, Lapi E, Cubellis MV, Kanduri C, Cirillo Silengo M, Riccio A, Ferrero GB.
    Hum Mol Genet; 2012 Jan 01; 21(1):10-25. PubMed ID: 21920939
    [Abstract] [Full Text] [Related]

  • 18. Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome.
    Weksberg R, Shuman C, Caluseriu O, Smith AC, Fei YL, Nishikawa J, Stockley TL, Best L, Chitayat D, Olney A, Ives E, Schneider A, Bestor TH, Li M, Sadowski P, Squire J.
    Hum Mol Genet; 2002 May 15; 11(11):1317-25. PubMed ID: 12019213
    [Abstract] [Full Text] [Related]

  • 19. A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.
    Russo S, Calzari L, Mussa A, Mainini E, Cassina M, Di Candia S, Clementi M, Guzzetti S, Tabano S, Miozzo M, Sirchia S, Finelli P, Prontera P, Maitz S, Sorge G, Calcagno A, Maghnie M, Divizia MT, Melis D, Manfredini E, Ferrero GB, Pecile V, Larizza L.
    Clin Epigenetics; 2016 May 15; 8():23. PubMed ID: 26933465
    [Abstract] [Full Text] [Related]

  • 20. Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.
    Soejima H, Higashimoto K.
    J Hum Genet; 2013 Jul 15; 58(7):402-9. PubMed ID: 23719190
    [Abstract] [Full Text] [Related]

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