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4. Analysis of CDKN1C in Beckwith Wiedemann syndrome. Algar E; Brickell S; Deeble G; Amor D; Smith P Hum Mutat; 2000; 15(6):497-508. PubMed ID: 10862080 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders. Soejima H; Higashimoto K J Hum Genet; 2013 Jul; 58(7):402-9. PubMed ID: 23719190 [TBL] [Abstract][Full Text] [Related]
7. Beckwith-Wiedemann syndrome. Weksberg R; Shuman C; Smith AC Am J Med Genet C Semin Med Genet; 2005 Aug; 137C(1):12-23. PubMed ID: 16010676 [TBL] [Abstract][Full Text] [Related]
8. Acute lymphocytic leukaemia in a child with Beckwith-Wiedemann syndrome harbouring a CDKN1C mutation. Abadie C; Bernard F; Netchine I; Sanlaville D; Roque A; Rossignol S; Coupier I Eur J Med Genet; 2010; 53(6):400-3. PubMed ID: 20826236 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith-Wiedemann syndrome. Lin HY; Chuang CK; Tu RY; Fang YY; Su YN; Chen CP; Chang CY; Liu HC; Chu TH; Niu DM; Lin SP Mol Genet Metab; 2016 Sep; 119(1-2):8-13. PubMed ID: 27436784 [TBL] [Abstract][Full Text] [Related]
11. An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome. Hatada I; Ohashi H; Fukushima Y; Kaneko Y; Inoue M; Komoto Y; Okada A; Ohishi S; Nabetani A; Morisaki H; Nakayama M; Niikawa N; Mukai T Nat Genet; 1996 Oct; 14(2):171-3. PubMed ID: 8841187 [TBL] [Abstract][Full Text] [Related]
12. An association between variants in the IGF2 gene and Beckwith-Wiedemann syndrome: interaction between genotype and epigenotype. Murrell A; Heeson S; Cooper WN; Douglas E; Apostolidou S; Moore GE; Maher ER; Reik W Hum Mol Genet; 2004 Jan; 13(2):247-55. PubMed ID: 14645199 [TBL] [Abstract][Full Text] [Related]
14. Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations. Li M; Squire J; Shuman C; Fei YL; Atkin J; Pauli R; Smith A; Nishikawa J; Chitayat D; Weksberg R Genomics; 2001 Jun; 74(3):370-6. PubMed ID: 11414765 [TBL] [Abstract][Full Text] [Related]
15. 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]
17. 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; 60(5):506-513. PubMed ID: 30968633 [TBL] [Abstract][Full Text] [Related]
18. Inherited and Sporadic Epimutations at the IGF2-H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumor. Riccio A; Sparago A; Verde G; De Crescenzo A; Citro V; Cubellis MV; Ferrero GB; Silengo MC; Russo S; Larizza L; Cerrato F Endocr Dev; 2009; 14():1-9. PubMed ID: 19293570 [TBL] [Abstract][Full Text] [Related]
19. 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]
20. CDKN1C mutations: two sides of the same coin. Eggermann T; Binder G; Brioude F; Maher ER; Lapunzina P; Cubellis MV; Bergadá I; Prawitt D; Begemann M Trends Mol Med; 2014 Nov; 20(11):614-22. PubMed ID: 25262539 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]