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Journal Abstract Search

245 related items for PubMed ID: 32573107

  • 1. Diffuse infantile hepatic hemangiomas in a patient with Beckwith-Wiedemann syndrome: A new association?
    Macchiaiolo M, Markowich AH, Diociaiuti A, Gonfiantini MV, Buonuomo PS, Rana I, Monti L, El Hachem M, Bartuli A.
    Am J Med Genet A; 2020 Aug; 182(8):1972-1976. PubMed ID: 32573107
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  • 2. Beckwith-Wiedemann syndrome with multiple hepatic and cutaneous hemangiomas in a female patient of Albanian origin: Diagnostic and therapeutic considerations.
    Moutafi M, Gkiourtzis N, Ververi A, Kavga M, Morichovitou A, Papadopoulou-Legbelou K, Fotoulaki M, Panagopoulou P.
    Am J Med Genet A; 2024 Jan; 194(1):88-93. PubMed ID: 37632712
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  • 4. Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15.
    Smith AC, Shuman C, Chitayat D, Steele L, Ray PN, Bourgeois J, Weksberg R.
    Am J Med Genet A; 2007 Dec 15; 143A(24):3010-5. PubMed ID: 18000906
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  • 5. Fibroadenoma in Beckwith-Wiedemann syndrome with paternal uniparental disomy of chromosome 11p15.5.
    Takama Y, Kubota A, Nakayama M, Higashimoto K, Jozaki K, Soejima H.
    Pediatr Int; 2014 Dec 15; 56(6):931-934. PubMed ID: 25521982
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  • 7. Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.
    Romanelli V, Meneses HN, Fernández L, Martínez-Glez V, Gracia-Bouthelier R, F Fraga M, Guillén E, Nevado J, Gean E, Martorell L, Marfil VE, García-Miñaur S, Lapunzina P.
    Eur J Hum Genet; 2011 Apr 15; 19(4):416-21. PubMed ID: 21248736
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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 15; 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 15; 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 15; 13(8):2077-84. PubMed ID: 12138139
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  • 11. (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome.
    Mussa A, Russo S, De Crescenzo A, Freschi A, Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Cirillo Silengo M, Larizza L, Riccio A, Ferrero GB.
    Eur J Hum Genet; 2016 Feb 15; 24(2):183-90. PubMed ID: 25898929
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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 15; 70(3):604-11. PubMed ID: 11813134
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  • 13. Beckwith-Wiedemann syndrome-associated hepatoblastoma: wnt signal activation occurs later in tumorigenesis in patients with 11p15.5 uniparental disomy.
    Fukuzawa R, Hata J, Hayashi Y, Ikeda H, Reeve AE.
    Pediatr Dev Pathol; 2003 Mar 15; 6(4):299-306. PubMed ID: 14692643
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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 15; 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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  • 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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