331 related articles for article (PubMed ID: 11468278)
1. Distant cis-elements regulate imprinted expression of the mouse p57( Kip2) (Cdkn1c) gene: implications for the human disorder, Beckwith--Wiedemann syndrome.
John RM; Ainscough JF; Barton SC; Surani MA
Hum Mol Genet; 2001 Jul; 10(15):1601-9. PubMed ID: 11468278
[TBL] [Abstract][Full Text] [Related]
2. Increased IGF-II protein affects p57kip2 expression in vivo and in vitro: implications for Beckwith-Wiedemann syndrome.
Grandjean V; Smith J; Schofield PN; Ferguson-Smith AC
Proc Natl Acad Sci U S A; 2000 May; 97(10):5279-84. PubMed ID: 10779549
[TBL] [Abstract][Full Text] [Related]
3. Assessment of p57(KIP2) gene mutation in Beckwith-Wiedemann syndrome.
Gaston V; Le Bouc Y; Soupre V; Vazquez MP; Gicquel C
Horm Res; 2000; 54(1):1-5. PubMed ID: 11182628
[TBL] [Abstract][Full Text] [Related]
4. A human p57(KIP2) transgene is not activated by passage through the maternal mouse germline.
John RM; Hodges M; Little P; Barton SC; Surani MA
Hum Mol Genet; 1999 Nov; 8(12):2211-9. PubMed ID: 10545601
[TBL] [Abstract][Full Text] [Related]
5. ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome.
Arima T; Kamikihara T; Hayashida T; Kato K; Inoue T; Shirayoshi Y; Oshimura M; Soejima H; Mukai T; Wake N
Nucleic Acids Res; 2005; 33(8):2650-60. PubMed ID: 15888726
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. p57(Kip2) knock-in mouse reveals CDK-independent contribution in the development of Beckwith-Wiedemann syndrome.
Duquesnes N; Callot C; Jeannot P; Daburon V; Nakayama KI; Manenti S; Davy A; Besson A
J Pathol; 2016 Jul; 239(3):250-61. PubMed ID: 27015986
[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. A Beckwith-Wiedemann-Associated
Stampone E; Bencivenga D; Barone C; Di Finizio M; Della Ragione F; Borriello A
Int J Mol Sci; 2021 Jul; 22(14):. PubMed ID: 34299047
[TBL] [Abstract][Full Text] [Related]
12. Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome.
Diaz-Meyer N; Day CD; Khatod K; Maher ER; Cooper W; Reik W; Junien C; Graham G; Algar E; Der Kaloustian VM; Higgins MJ
J Med Genet; 2003 Nov; 40(11):797-801. PubMed ID: 14627666
[TBL] [Abstract][Full Text] [Related]
13. Targeted disruption of the human LIT1 locus defines a putative imprinting control element playing an essential role in Beckwith-Wiedemann syndrome.
Horike S; Mitsuya K; Meguro M; Kotobuki N; Kashiwagi A; Notsu T; Schulz TC; Shirayoshi Y; Oshimura M
Hum Mol Genet; 2000 Sep; 9(14):2075-83. PubMed ID: 10958646
[TBL] [Abstract][Full Text] [Related]
14. Syntenic organization of the mouse distal chromosome 7 imprinting cluster and the Beckwith-Wiedemann syndrome region in chromosome 11p15.5.
Paulsen M; Davies KR; Bowden LM; Villar AJ; Franck O; Fuermann M; Dean WL; Moore TF; Rodrigues N; Davies KE; Hu RJ; Feinberg AP; Maher ER; Reik W; Walter J
Hum Mol Genet; 1998 Jul; 7(7):1149-59. PubMed ID: 9618174
[TBL] [Abstract][Full Text] [Related]
15. Imprinting disruption of the CDKN1C/KCNQ1OT1 domain: the molecular mechanisms causing Beckwith-Wiedemann syndrome and cancer.
Higashimoto K; Soejima H; Saito T; Okumura K; Mukai T
Cytogenet Genome Res; 2006; 113(1-4):306-12. PubMed ID: 16575194
[TBL] [Abstract][Full Text] [Related]
16. Oppositely imprinted genes p57(Kip2) and igf2 interact in a mouse model for Beckwith-Wiedemann syndrome.
Caspary T; Cleary MA; Perlman EJ; Zhang P; Elledge SJ; Tilghman SM
Genes Dev; 1999 Dec; 13(23):3115-24. PubMed ID: 10601037
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.
Brioude F; Netchine I; Praz F; Le Jule M; Calmel C; Lacombe D; Edery P; Catala M; Odent S; Isidor B; Lyonnet S; Sigaudy S; Leheup B; Audebert-Bellanger S; Burglen L; Giuliano F; Alessandri JL; Cormier-Daire V; Laffargue F; Blesson S; Coupier I; Lespinasse J; Blanchet P; Boute O; Baumann C; Polak M; Doray B; Verloes A; Viot G; Le Bouc Y; Rossignol S
Hum Mutat; 2015 Sep; 36(9):894-902. PubMed ID: 26077438
[TBL] [Abstract][Full Text] [Related]
20. Sequence and functional comparison in the Beckwith-Wiedemann region: implications for a novel imprinting centre and extended imprinting.
Engemann S; Strödicke M; Paulsen M; Franck O; Reinhardt R; Lane N; Reik W; Walter J
Hum Mol Genet; 2000 Nov; 9(18):2691-706. PubMed ID: 11063728
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]