BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

234 related articles for article (PubMed ID: 14692643)

  • 1. 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; 6(4):299-306. PubMed ID: 14692643
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 8(54):91950-91957. PubMed ID: 29190888
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 143A(24):3010-5. PubMed ID: 18000906
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 56(6):931-934. PubMed ID: 25521982
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 170(3):559-64. PubMed ID: 26572961
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 10(26):2989-3000. PubMed ID: 11751681
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndrome.
    Cooper WN; Curley R; Macdonald F; Maher ER
    Genomics; 2007 May; 89(5):613-7. PubMed ID: 17337339
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 34(5):353-9. PubMed ID: 9152830
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mosaic paternal genome-wide uniparental isodisomy with down syndrome.
    Darcy D; Atwal PS; Angell C; Gadi I; Wallerstein R
    Am J Med Genet A; 2015 Oct; 167A(10):2463-9. PubMed ID: 26219535
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 45(4):e525-e529. PubMed ID: 36730589
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 140(14):1497-503. PubMed ID: 16770802
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 91(11):837-40. PubMed ID: 16264244
    [TBL] [Abstract][Full Text] [Related]  

  • 18. (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; 24(2):183-90. PubMed ID: 25898929
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith-Wiedemann syndrome.
    De Crescenzo A; Coppola F; Falco P; Bernardo I; Ausanio G; Cerrato F; Falco L; Riccio A
    Eur J Med Genet; 2011; 54(4):e451-4. PubMed ID: 21571108
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
    Lee BH; Kim GH; Oh TJ; Kim JH; Lee JJ; Choi SH; Lee JY; Kim JM; Choi IH; Kim YM; Choi JH; Yoo HW
    J Hum Genet; 2013 Sep; 58(9):604-10. PubMed ID: 23803580
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.