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Journal Abstract Search

354 related items for PubMed ID: 32039119

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  • 4. 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; 9(6):409-18. PubMed ID: 11436121
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  • 10. (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicine.
    Mussa A, Russo S, Larizza L, Riccio A, Ferrero GB.
    Clin Genet; 2016 Apr; 89(4):403-415. PubMed ID: 26138266
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  • 11. Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith-Wiedemann syndrome.
    Lin HY, Chuang CK, Tu RY, Fang YY, Su YN, Chen CP, Chang CY, Liu HC, Chu TH, Niu DM, Lin SP.
    Mol Genet Metab; 2016 Sep; 119(1-2):8-13. PubMed ID: 27436784
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  • 14. Investigation of a pervasive immune, cardiac, and behavioral phenotype in Beckwith-Wiedemann syndrome: A case report.
    McElroy TD, Duffy KA, Hathaway ER, Byrne ME, Kalish JM.
    Am J Med Genet A; 2023 Apr; 191(4):1107-1110. PubMed ID: 36595472
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  • 17. Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.
    Slatter RE, Elliott M, Welham K, Carrera M, Schofield PN, Barton DE, Maher ER.
    J Med Genet; 1994 Oct; 31(10):749-53. PubMed ID: 7837249
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  • 18. The significance of molecular studies in the long-term follow-up of children with beckwith- wiedemann syndrome.
    Gizewska M, Wilk M, Patalan M, Mackay D, Peregud-Pegorzelski J, Gawrych E, Walczak M, Petriczko E, Brodkiewicz A.
    Turk J Pediatr; 2014 Oct; 56(2):177-82. PubMed ID: 24911853
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  • 19. Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.
    Brioude F, Netchine I, Praz F, Le Jule M, Calmel C, Lacombe D, Edery P, Catala M, Odent S, Isidor B, Lyonnet S, Sigaudy S, Leheup B, Audebert-Bellanger S, Burglen L, Giuliano F, Alessandri JL, Cormier-Daire V, Laffargue F, Blesson S, Coupier I, Lespinasse J, Blanchet P, Boute O, Baumann C, Polak M, Doray B, Verloes A, Viot G, Le Bouc Y, Rossignol S.
    Hum Mutat; 2015 Sep; 36(9):894-902. PubMed ID: 26077438
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  • 20. Metastatic Phyllodes Tumor in a Patient With Beckwith-Wiedemann Syndrome.
    Saini A, Gupte T, Choudhury MSR, Jacques SM, Roxas R.
    J Investig Med High Impact Case Rep; 2022 Sep; 10():23247096221133197. PubMed ID: 36314358
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