BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

333 related articles for article (PubMed ID: 7987305)

  • 1. Allelic methylation of H19 and IGF2 in the Beckwith-Wiedemann syndrome.
    Reik W; Brown KW; Slatter RE; Sartori P; Elliott M; Maher ER
    Hum Mol Genet; 1994 Aug; 3(8):1297-301. PubMed ID: 7987305
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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; 37(12):921-6. PubMed ID: 11106355
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. Rapid detection of methylation change at H19 in human imprinting disorders using methylation-sensitive high-resolution melting.
    Wojdacz TK; Dobrovic A; Algar EM
    Hum Mutat; 2008 Oct; 29(10):1255-60. PubMed ID: 18473334
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Relaxation of insulin-like growth factor 2 imprinting and discordant methylation at KvDMR1 in two first cousins affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber syndromes.
    Sperandeo MP; Ungaro P; Vernucci M; Pedone PV; Cerrato F; Perone L; Casola S; Cubellis MV; Bruni CB; Andria G; Sebastio G; Riccio A
    Am J Hum Genet; 2000 Mar; 66(3):841-7. PubMed ID: 10712200
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Alterations of H19 imprinting and IGF2 replication timing are infrequent in Beckwith-Wiedemann syndrome.
    Squire JA; Li M; Perlikowski S; Fei YL; Bayani J; Zhang ZM; Weksberg R
    Genomics; 2000 May; 65(3):234-42. PubMed ID: 10857747
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation.
    Lam WW; Hatada I; Ohishi S; Mukai T; Joyce JA; Cole TR; Donnai D; Reik W; Schofield PN; Maher ER
    J Med Genet; 1999 Jul; 36(7):518-23. PubMed ID: 10424811
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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; 133(3):321-30. PubMed ID: 24154661
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway.
    Brown KW; Villar AJ; Bickmore W; Clayton-Smith J; Catchpoole D; Maher ER; Reik W
    Hum Mol Genet; 1996 Dec; 5(12):2027-32. PubMed ID: 8968759
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Molecular biology of Beckwith-Wiedemann syndrome.
    Weksberg R; Squire JA
    Med Pediatr Oncol; 1996 Nov; 27(5):462-9. PubMed ID: 8827075
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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; 19(4):416-21. PubMed ID: 21248736
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 13(9):1025-32. PubMed ID: 15999116
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family.
    Jurkiewicz D; Kugaudo M; Skórka A; Śmigiel R; Smyk M; Ciara E; Chrzanowska K; Krajewska-Walasek M
    Am J Med Genet A; 2017 Jan; 173(1):72-78. PubMed ID: 27612309
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Beckwith-Wiedemann syndrome.
    Choufani S; Shuman C; Weksberg R
    Am J Med Genet C Semin Med Genet; 2010 Aug; 154C(3):343-54. PubMed ID: 20803657
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.
    Russo S; Calzari L; Mussa A; Mainini E; Cassina M; Di Candia S; Clementi M; Guzzetti S; Tabano S; Miozzo M; Sirchia S; Finelli P; Prontera P; Maitz S; Sorge G; Calcagno A; Maghnie M; Divizia MT; Melis D; Manfredini E; Ferrero GB; Pecile V; Larizza L
    Clin Epigenetics; 2016; 8():23. PubMed ID: 26933465
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.