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Journal Abstract Search

858 related items for PubMed ID: 26933465

  • 1. 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; 8():23. PubMed ID: 26933465
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  • 2. 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; 58(9):604-10. PubMed ID: 23803580
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  • 3. Usefulness of the MS-MLPA technique in the diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
    Acosta-Fernández E, Corona-Rivera JR, Ríos-Flores IM, Torres-Anguiano E, Corona-Rivera A, Peña-Padilla C, Bobadilla-Morales L.
    Gac Med Mex; 2022 Sep; 158(4):202-209. PubMed ID: 36256576
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  • 4. Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important.
    Eggermann T, Brück J, Knopp C, Fekete G, Kratz C, Tasic V, Kurth I, Elbracht M, Eggermann K, Begemann M.
    J Mol Med (Berl); 2020 Oct; 98(10):1447-1455. PubMed ID: 32839827
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  • 9. Imprinted disorders and growth.
    Giabicani É, Brioude F, Le Bouc Y, Netchine I.
    Ann Endocrinol (Paris); 2017 Jun; 78(2):112-113. PubMed ID: 28478949
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  • 12. Different methylation patterns in BWS/SRS cases clarified by MS-MLPA.
    Lukova M, Todorova A, Todorov T, Mitev V.
    Mol Biol Rep; 2013 Jan; 40(1):263-8. PubMed ID: 23086270
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  • 14. Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes.
    Demars J, Gicquel C.
    Clin Genet; 2012 Apr; 81(4):350-61. PubMed ID: 22150955
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  • 16. Prospective study of epigenetic alterations responsible for isolated hemihyperplasia/hemihypoplasia and their association with leg length discrepancy.
    Shin CH, Lim C, Kim HY, Yoo WJ, Cho TJ, Choi IH, Ko JM.
    Orphanet J Rare Dis; 2021 Oct 09; 16(1):418. PubMed ID: 34627330
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  • 17. 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 09; 133(3):321-30. PubMed ID: 24154661
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  • 19. 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 09; 9(6):409-18. PubMed ID: 11436121
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