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Journal Abstract Search

307 related items for PubMed ID: 18000906

  • 21. 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
    [Abstract] [Full Text] [Related]

  • 22. Genomic profiles of a hepatoblastoma from a patient with Beckwith-Wiedemann syndrome with uniparental disomy on chromosome 11p15 and germline mutation of APC and PALB2.
    Kim SY, Jung SH, Kim MS, Han MR, Park HC, Jung ES, Lee SH, Lee SH, Chung YJ.
    Oncotarget; 2017 Nov 03; 8(54):91950-91957. PubMed ID: 29190888
    [Abstract] [Full Text] [Related]

  • 23. 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 03; 13(9):1025-32. PubMed ID: 15999116
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  • 25. Molecular biology of Beckwith-Wiedemann syndrome.
    Weksberg R, Squire JA.
    Med Pediatr Oncol; 1996 Nov 03; 27(5):462-9. PubMed ID: 8827075
    [Abstract] [Full Text] [Related]

  • 26. Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion.
    Gripp KW, Robbins KM, Sheffield BS, Lee AF, Patel MS, Yip S, Doyle D, Stabley D, Sol-Church K.
    Am J Med Genet A; 2016 Mar 03; 170(3):559-64. PubMed ID: 26572961
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  • 28. Proportion of cells with paternal 11p15 uniparental disomy correlates with organ enlargement in Wiedemann-beckwith syndrome.
    Itoh N, Becroft DM, Reeve AE, Morison IM.
    Am J Med Genet; 2000 May 15; 92(2):111-6. PubMed ID: 10797434
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  • 29. Beckwith-Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature.
    Sassi H, Elaribi Y, Jilani H, Rejeb I, Hizem S, Sebai M, Kasdallah N, Bouthour H, Hannachi S, Beygo J, Saad A, Buiting K, H'mida Ben-Brahim D, BenJemaa L.
    Mol Genet Genomic Med; 2021 Oct 15; 9(10):e1796. PubMed ID: 34510813
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  • 31. Pediatric Cushing syndrome: An early sign of an underling cancer predisposition syndrome.
    Schweiger BM, Esakhan CL, Frishberg D, Grand K, Garg R, Sanchez-Lara PA.
    Am J Med Genet A; 2021 Sep 15; 185(9):2824-2828. PubMed ID: 33960620
    [Abstract] [Full Text] [Related]

  • 32. 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 15; 45(4):112-7. PubMed ID: 25861997
    [Abstract] [Full Text] [Related]

  • 33. Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.
    Soejima H, Higashimoto K.
    J Hum Genet; 2013 Jul 15; 58(7):402-9. PubMed ID: 23719190
    [Abstract] [Full Text] [Related]

  • 34. Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour.
    Gogiel M, Begemann M, Spengler S, Soellner L, Göretzlehner U, Eggermann T, Strobl-Wildemann G.
    Eur J Hum Genet; 2013 Jul 15; 21(7):788-91. PubMed ID: 23188046
    [Abstract] [Full Text] [Related]

  • 35. Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.
    Engel JR, Smallwood A, Harper A, Higgins MJ, Oshimura M, Reik W, Schofield PN, Maher ER.
    J Med Genet; 2000 Dec 15; 37(12):921-6. PubMed ID: 11106355
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  • 36. [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
    [Abstract] [Full Text] [Related]

  • 37. Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies.
    Shuman C, Smith AC, Steele L, Ray PN, Clericuzio C, Zackai E, Parisi MA, Meadows AT, Kelly T, Tichauer D, Squire JA, Sadowski P, Weksberg R.
    Am J Med Genet A; 2006 Jul 15; 140(14):1497-503. PubMed ID: 16770802
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  • 38. Fetal growth patterns 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, Silengo MC, Larizza L, Riccio A, Ferrero GB.
    Clin Genet; 2016 Jul 15; 90(1):21-7. PubMed ID: 26857110
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  • 40. 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 Jul 15; 10():23247096221133197. PubMed ID: 36314358
    [Abstract] [Full Text] [Related]

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