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PUBMED FOR HANDHELDS

Journal Abstract Search


182 related items for PubMed ID: 24550765

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  • 3. 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
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  • 4. Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells.
    Bliek J, Alders M, Maas SM, Oostra RJ, Mackay DM, van der Lip K, Callaway JL, Brooks A, van 't Padje S, Westerveld A, Leschot NJ, Mannens MM.
    Eur J Hum Genet; 2009 Dec 15; 17(12):1625-34. PubMed ID: 19513094
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  • 6. (Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith-Wiedemann syndrome.
    Fontana L, Bedeschi MF, Cagnoli GA, Costanza J, Persico N, Gangi S, Porro M, Ajmone PF, Colapietro P, Santaniello C, Crippa M, Sirchia SM, Miozzo M, Tabano S.
    Mol Genet Genomic Med; 2020 Sep 15; 8(9):e1386. PubMed ID: 32627967
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  • 8. Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.
    Calvello M, Tabano S, Colapietro P, Maitz S, Pansa A, Augello C, Lalatta F, Gentilin B, Spreafico F, Calzari L, Perotti D, Larizza L, Russo S, Selicorni A, Sirchia SM, Miozzo M.
    Epigenetics; 2013 Oct 15; 8(10):1053-60. PubMed ID: 23917791
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  • 9. 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
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  • 11. Non-random X chromosome inactivation in an affected twin in a monozygotic twin pair discordant for Wiedemann-Beckwith syndrome.
    Orstavik RE, Tommerup N, Eiklid K, Orstavik KH.
    Am J Med Genet; 1995 Mar 27; 56(2):210-4. PubMed ID: 7625447
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  • 12. First report on concordant monozygotic twins with Silver-Russell syndrome and ICR1 hypomethylation.
    Riess A, Binder G, Ziegler J, Begemann M, Soellner L, Eggermann T.
    Eur J Med Genet; 2016 Jan 27; 59(1):1-4. PubMed ID: 26691664
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  • 15. Different methylation patterns in BWS/SRS cases clarified by MS-MLPA.
    Lukova M, Todorova A, Todorov T, Mitev V.
    Mol Biol Rep; 2013 Jan 27; 40(1):263-8. PubMed ID: 23086270
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  • 17. 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
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  • 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 Mar 26; 8():23. PubMed ID: 26933465
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