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Journal Abstract Search

226 related items for PubMed ID: 25943194

  • 41. 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]

  • 42. Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor.
    Prawitt D, Enklaar T, Gärtner-Rupprecht B, Spangenberg C, Oswald M, Lausch E, Schmidtke P, Reutzel D, Fees S, Lucito R, Korzon M, Brozek I, Limon J, Housman DE, Pelletier J, Zabel B.
    Proc Natl Acad Sci U S A; 2005 Mar 15; 102(11):4085-90. PubMed ID: 15743916
    [Abstract] [Full Text] [Related]

  • 43. CTCF binding at the H19 imprinting control region mediates maternally inherited higher-order chromatin conformation to restrict enhancer access to Igf2.
    Kurukuti S, Tiwari VK, Tavoosidana G, Pugacheva E, Murrell A, Zhao Z, Lobanenkov V, Reik W, Ohlsson R.
    Proc Natl Acad Sci U S A; 2006 Jul 11; 103(28):10684-9. PubMed ID: 16815976
    [Abstract] [Full Text] [Related]

  • 44. Epigenetics, genomic imprinting and assisted reproductive technology.
    Le Bouc Y, Rossignol S, Azzi S, Steunou V, Netchine I, Gicquel C.
    Ann Endocrinol (Paris); 2010 May 11; 71(3):237-8. PubMed ID: 20362968
    [Abstract] [Full Text] [Related]

  • 45. Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report.
    Lekszas C, Nanda I, Vona B, Böck J, Ashrafzadeh F, Donyadideh N, Ebrahimzadeh F, Ahangari N, Maroofian R, Karimiani EG, Haaf T.
    BMC Med Genomics; 2019 Jun 07; 12(1):83. PubMed ID: 31174542
    [Abstract] [Full Text] [Related]

  • 46. IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia.
    Zeschnigk M, Albrecht B, Buiting K, Kanber D, Eggermann T, Binder G, Gromoll J, Prott EC, Seland S, Horsthemke B.
    Eur J Hum Genet; 2008 Mar 07; 16(3):328-34. PubMed ID: 18159214
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  • 49. Beckwith-Wiedemann and Russell-Silver Syndromes: from new molecular insights to the comprehension of imprinting regulation.
    Azzi S, Abi Habib W, Netchine I.
    Curr Opin Endocrinol Diabetes Obes; 2014 Feb 07; 21(1):30-8. PubMed ID: 24322424
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  • 50. Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by altered imprinting pattern in the IGF2-H19 domain.
    Reik W, Brown KW, Schneid H, Le Bouc Y, Bickmore W, Maher ER.
    Hum Mol Genet; 1995 Dec 07; 4(12):2379-85. PubMed ID: 8634713
    [Abstract] [Full Text] [Related]

  • 51. 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 07; 66(1):104671. PubMed ID: 36402267
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  • 52. An association between variants in the IGF2 gene and Beckwith-Wiedemann syndrome: interaction between genotype and epigenotype.
    Murrell A, Heeson S, Cooper WN, Douglas E, Apostolidou S, Moore GE, Maher ER, Reik W.
    Hum Mol Genet; 2004 Jan 15; 13(2):247-55. PubMed ID: 14645199
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  • 53. High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.
    Baskin B, Choufani S, Chen YA, Shuman C, Parkinson N, Lemyre E, Micheil Innes A, Stavropoulos DJ, Ray PN, Weksberg R.
    Hum Genet; 2014 Mar 15; 133(3):321-30. PubMed ID: 24154661
    [Abstract] [Full Text] [Related]

  • 54. Imprinted anomalies in fetal and childhood growth disorders: the model of Russell-Silver and Beckwith-Wiedemann syndromes.
    Netchine I, Rossignol S, Azzi S, Brioude F, Le Bouc Y.
    Endocr Dev; 2012 Mar 15; 23():60-70. PubMed ID: 23182821
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  • 55. Hypomethylation of a centromeric block of ICR1 is sufficient to cause Silver-Russell syndrome.
    Higashimoto K, Watanabe H, Tanoue Y, Tonoki H, Tokutomi T, Hara S, Yatsuki H, Soejima H.
    J Med Genet; 2021 Jun 15; 58(6):422-425. PubMed ID: 32447322
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  • 56. Placenta-specific epimutation at H19-DMR among common pregnancy complications: its frequency and effect on the expression patterns of H19 and IGF2.
    Yamaguchi Y, Tayama C, Tomikawa J, Akaishi R, Kamura H, Matsuoka K, Wake N, Minakami H, Kato K, Yamada T, Nakabayashi K, Hata K.
    Clin Epigenetics; 2019 Aug 01; 11(1):113. PubMed ID: 31370882
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  • 57. Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
    Lee BH, Kim GH, Oh TJ, Kim JH, Lee JJ, Choi SH, Lee JY, Kim JM, Choi IH, Kim YM, Choi JH, Yoo HW.
    J Hum Genet; 2013 Sep 01; 58(9):604-10. PubMed ID: 23803580
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  • 58. Relationship of porcine IGF2 imprinting status to DNA methylation at the H19 DMD and the IGF2 DMRs 1 and 2.
    Braunschweig MH, Owczarek-Lipska M, Stahlberger-Saitbekova N.
    BMC Genet; 2011 May 17; 12():47. PubMed ID: 21575277
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