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179 related items for PubMed ID: 36730589

  • 1. Concurrent Hepatoblastoma and Wilms Tumor Leading to Diagnosis of Beckwith-Wiedemann Syndrome.
    Wolfe DM, Webster Carrion A, Masukhani MM, Oberg JA, Pavisic J, El-Ali A, Gupta M, Weng K, Glasser CL.
    J Pediatr Hematol Oncol; 2023 May 01; 45(4):e525-e529. PubMed ID: 36730589
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  • 3. Calcifying nested stromal-epithelial tumor (CNSET) of the liver in Beckwith-Wiedemann syndrome.
    Khoshnam N, Robinson H, Clay MR, Schaffer LR, Gillespie SE, Shehata BM.
    Eur J Med Genet; 2017 Feb 01; 60(2):136-139. PubMed ID: 27965001
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  • 4. Molecular biology of Beckwith-Wiedemann syndrome.
    Weksberg R, Squire JA.
    Med Pediatr Oncol; 1996 Nov 01; 27(5):462-9. PubMed ID: 8827075
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  • 5. 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 01; 9(6):409-18. PubMed ID: 11436121
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  • 6. 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 Jun 01; 6(4):299-306. PubMed ID: 14692643
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  • 7. 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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  • 8. 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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  • 10. 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 15; 182(8):1972-1976. PubMed ID: 32573107
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  • 11. Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups.
    Maas SM, Vansenne F, Kadouch DJ, Ibrahim A, Bliek J, Hopman S, Mannens MM, Merks JH, Maher ER, Hennekam RC.
    Am J Med Genet A; 2016 Sep 15; 170(9):2248-60. PubMed ID: 27419809
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  • 12. Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome.
    Gazzin A, Carli D, Sirchia F, Molinatto C, Cardaropoli S, Palumbo G, Zampino G, Ferrero GB, Mussa A.
    Am J Med Genet A; 2019 Sep 15; 179(9):1691-1702. PubMed ID: 31339634
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  • 13. 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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  • 14. Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour.
    Sparago A, Russo S, Cerrato F, Ferraiuolo S, Castorina P, Selicorni A, Schwienbacher C, Negrini M, Ferrero GB, Silengo MC, Anichini C, Larizza L, Riccio A.
    Hum Mol Genet; 2007 Feb 01; 16(3):254-64. PubMed ID: 17158821
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  • 15. 11p15.5 epimutations in children with Wilms tumor and hepatoblastoma detected in peripheral blood.
    Fiala EM, Ortiz MV, Kennedy JA, Glodzik D, Fleischut MH, Duffy KA, Hathaway ER, Heaton T, Gerstle JT, Steinherz P, Shukla N, McNeer N, Tkachuk K, Bouvier N, Cadoo K, Carlo MI, Latham A, Dubard Gault M, Joseph V, Kemel Y, Kentsis A, Stadler Z, La Quaglia M, Papaemmanuil E, Friedman D, Ganguly A, Kung A, Offit K, Kalish JM, Walsh MF.
    Cancer; 2020 Jul 01; 126(13):3114-3121. PubMed ID: 32320050
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  • 16. 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 01; 34(5):353-9. PubMed ID: 9152830
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  • 17. Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome.
    Cooper WN, Luharia A, Evans GA, Raza H, Haire AC, Grundy R, Bowdin SC, Riccio A, Sebastio G, Bliek J, Schofield PN, Reik W, Macdonald F, Maher ER.
    Eur J Hum Genet; 2005 Sep 01; 13(9):1025-32. PubMed ID: 15999116
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  • 18. The clinical course of an overgrowth syndrome, from diagnosis in infancy through adulthood: the case of Beckwith-Wiedemann syndrome.
    Pappas JG.
    Curr Probl Pediatr Adolesc Health Care; 2015 Apr 01; 45(4):112-7. PubMed ID: 25861997
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  • 19. Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome.
    Bilgin B, Kabaçam S, Taşkıran E, Şimşek-Kiper PÖ, Alanay Y, Boduroğlu K, Utine GE.
    Turk J Pediatr; 2018 Apr 01; 60(5):506-513. PubMed ID: 30968633
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  • 20. The utility of alpha-fetoprotein screening in Beckwith-Wiedemann syndrome.
    Duffy KA, Deardorff MA, Kalish JM.
    Am J Med Genet A; 2017 Mar 01; 173(3):581-584. PubMed ID: 28160403
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