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3. 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]
4. Coding mutations in p57KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumors. O'Keefe D; Dao D; Zhao L; Sanderson R; Warburton D; Weiss L; Anyane-Yeboa K; Tycko B Am J Hum Genet; 1997 Aug; 61(2):295-303. PubMed ID: 9311733 [TBL] [Abstract][Full Text] [Related]
5. Novel deletion in 11p15.5 imprinting center region 1 in a patient with Beckwith-Wiedemann syndrome provides insight into distal enhancer regulation and tumorigenesis. Bachmann N; Crazzolara R; Bohne F; Kotzot D; Maurer K; Enklaar T; Prawitt D; Bergmann C Pediatr Blood Cancer; 2017 Mar; 64(3):. PubMed ID: 27650505 [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. Wilms tumour in Beckwith-Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines. Brzezinski J; Shuman C; Choufani S; Ray P; Stavropoulos DJ; Basran R; Steele L; Parkinson N; Grant R; Thorner P; Lorenzo A; Weksberg R Eur J Hum Genet; 2017 Sep; 25(9):1031-1039. PubMed ID: 28699632 [TBL] [Abstract][Full Text] [Related]
8. 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; 60(2):136-139. PubMed ID: 27965001 [TBL] [Abstract][Full Text] [Related]
9. Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus. Valente FM; Sparago A; Freschi A; Hill-Harfe K; Maas SM; Frints SGM; Alders M; Pignata L; Franzese M; Angelini C; Carli D; Mussa A; Gazzin A; Gabbarini F; Acurzio B; Ferrero GB; Bliek J; Williams CA; Riccio A; Cerrato F Genet Med; 2019 Aug; 21(8):1808-1820. PubMed ID: 30635621 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor. Scott RH; Douglas J; Baskcomb L; Huxter N; Barker K; Hanks S; Craft A; Gerrard M; Kohler JA; Levitt GA; Picton S; Pizer B; Ronghe MD; Williams D; ; Cook JA; Pujol P; Maher ER; Birch JM; Stiller CA; Pritchard-Jones K; Rahman N Nat Genet; 2008 Nov; 40(11):1329-34. PubMed ID: 18836444 [TBL] [Abstract][Full Text] [Related]
12. Children with idiopathic hemihypertrophy and beckwith-wiedemann syndrome have different constitutional epigenotypes associated with wilms tumor. Niemitz EL; Feinberg AP; Brandenburg SA; Grundy PE; DeBaun MR Am J Hum Genet; 2005 Nov; 77(5):887-91. PubMed ID: 16252245 [TBL] [Abstract][Full Text] [Related]
13. The significance of molecular studies in the long-term follow-up of children with beckwith- wiedemann syndrome. Gizewska M; Wilk M; Patalan M; Mackay D; Peregud-Pegorzelski J; Gawrych E; Walczak M; Petriczko E; Brodkiewicz A Turk J Pediatr; 2014; 56(2):177-82. PubMed ID: 24911853 [TBL] [Abstract][Full Text] [Related]
14. Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations. Maeda T; Higashimoto K; Jozaki K; Yatsuki H; Nakabayashi K; Makita Y; Tonoki H; Okamoto N; Takada F; Ohashi H; Migita M; Kosaki R; Matsubara K; Ogata T; Matsuo M; Hamasaki Y; Ohtsuka Y; Nishioka K; Joh K; Mukai T; Hata K; Soejima H Genet Med; 2014 Dec; 16(12):903-12. PubMed ID: 24810686 [TBL] [Abstract][Full Text] [Related]
15. Multiple genetic abnormalities of 11p15 in Wilms' tumor. Feinberg AP Med Pediatr Oncol; 1996 Nov; 27(5):484-9. PubMed ID: 8827078 [TBL] [Abstract][Full Text] [Related]
16. Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome. Baker SW; Duffy KA; Richards-Yutz J; Deardorff MA; Kalish JM; Ganguly A J Med Genet; 2021 Mar; 58(3):178-184. PubMed ID: 32430359 [TBL] [Abstract][Full Text] [Related]
17. Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour. Cerrato F; Sparago A; Verde G; De Crescenzo A; Citro V; Cubellis MV; Rinaldi MM; Boccuto L; Neri G; Magnani C; D'Angelo P; Collini P; Perotti D; Sebastio G; Maher ER; Riccio A Hum Mol Genet; 2008 May; 17(10):1427-35. PubMed ID: 18245780 [TBL] [Abstract][Full Text] [Related]
19. The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region. Rossignol S; Steunou V; Chalas C; Kerjean A; Rigolet M; Viegas-Pequignot E; Jouannet P; Le Bouc Y; Gicquel C J Med Genet; 2006 Dec; 43(12):902-7. PubMed ID: 16825435 [TBL] [Abstract][Full Text] [Related]
20. 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; 179(9):1691-1702. PubMed ID: 31339634 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]