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Journal Abstract Search

245 related items for PubMed ID: 32573107

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  • 6. 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; 133(3):321-30. PubMed ID: 24154661
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  • 8. Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management.
    Sheppard SE, Lalonde E, Adzick NS, Beck AE, Bhatti T, De Leon DD, Duffy KA, Ganguly A, Hathaway E, Ji J, Linn R, Lord K, Randolph LM, Sajorda B, States L, Conlin LK, Kalish JM.
    Genet Med; 2019 Nov; 21(11):2644-2649. PubMed ID: 31147633
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  • 9. Congenital hyperinsulinism in an infant with paternal uniparental disomy on chromosome 11p15: few clinical features suggestive of Beckwith-Wiedemann syndrome.
    Adachi H, Takahashi I, Higashimoto K, Tsuchida S, Noguchi A, Tamura H, Arai H, Ito T, Masue M, Nishibori H, Takahashi T, Soejima H.
    Endocr J; 2013 Nov; 60(4):403-8. PubMed ID: 23197114
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  • 10. Renal abnormalities in beckwith-wiedemann syndrome are associated with 11p15.5 uniparental disomy.
    Goldman M, Smith A, Shuman C, Caluseriu O, Wei C, Steele L, Ray P, Sadowski P, Squire J, Weksberg R, Rosenblum ND.
    J Am Soc Nephrol; 2002 Aug; 13(8):2077-84. PubMed ID: 12138139
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  • 12. Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects.
    DeBaun MR, Niemitz EL, McNeil DE, Brandenburg SA, Lee MP, Feinberg AP.
    Am J Hum Genet; 2002 Mar; 70(3):604-11. PubMed ID: 11813134
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  • 15. 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 Mar; 10():23247096221133197. PubMed ID: 36314358
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  • 16. 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
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  • 17. [Uniparental disomy of chromosome 11 in a patient with Beckwith-Wiedemann syndrome. First reported case in Iceland].
    Pálsson GI, Finnsdóttir V, Jóhannsson JH, Ingvarsson S.
    Laeknabladid; 2005 Nov 15; 91(11):837-40. PubMed ID: 16264244
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  • 18. Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.
    Catchpoole D, Lam WW, Valler D, Temple IK, Joyce JA, Reik W, Schofield PN, Maher ER.
    J Med Genet; 1997 May 15; 34(5):353-9. PubMed ID: 9152830
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  • 19. Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndrome.
    Cooper WN, Curley R, Macdonald F, Maher ER.
    Genomics; 2007 May 15; 89(5):613-7. PubMed ID: 17337339
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  • 20. Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome.
    Choufani S, Ko JM, Lou Y, Shuman C, Fishman L, Weksberg R.
    Genes (Basel); 2021 Jan 27; 12(2):. PubMed ID: 33513760
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