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References

These sources were used to develop the Genetics Home Reference gene summary on the CDKN1C gene.

Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, Délot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergadá I, Dell'Angelica EC, Nelson SF, Martinez-Agosto JA, Achermann JC, Vilain E. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet. 2012 May 27;44(7):788-92. doi: 10.1038/ng.2275. PubMed citation
Bhuiyan ZA, Yatsuki H, Sasaguri T, Joh K, Soejima H, Zhu X, Hatada I, Morisaki H, Morisaki T, Mukai T. Functional analysis of the p57KIP2 gene mutation in Beckwith-Wiedemann syndrome. Hum Genet. 1999 Mar;104(3):205-10. PubMed citation
Delaval K, Wagschal A, Feil R. Epigenetic deregulation of imprinting in congenital diseases of aberrant growth. Bioessays. 2006 May;28(5):453-9. Review. PubMed citation
Diaz-Meyer N, Yang Y, Sait SN, Maher ER, Higgins MJ. Alternative mechanisms associated with silencing of CDKN1C in Beckwith-Wiedemann syndrome. J Med Genet. 2005 Aug;42(8):648-55. PubMed citation
Enklaar T, Zabel BU, Prawitt D. Beckwith-Wiedemann syndrome: multiple molecular mechanisms. Expert Rev Mol Med. 2006 Jul 17;8(17):1-19. Review. PubMed citation
Entrez Gene
Gurrieri F, Zollino M, Oliva A, Pascali V, Orteschi D, Pietrobono R, Camporeale A, Coll Vidal M, Partemi S, Brugada R, Bellocci F, Neri G. Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. Eur J Hum Genet. 2013 Mar 20. doi: 10.1038/ejhg.2012.280. [Epub ahead of print]. PubMed citation
Riccio A, Cubellis MV. Gain of function in CDKN1C. Nat Genet. 2012 Jun 27;44(7):737-8. doi: 10.1038/ng.2336. PubMed citation
Romanelli V, Belinchón A, Benito-Sanz S, Martínez-Glez V, Gracia-Bouthelier R, Heath KE, Campos-Barros A, García-Miñaur S, Fernandez L, Meneses H, López-Siguero JP, Guillén-Navarro E, Gómez-Puertas P, Wesselink JJ, Mercado G, Esteban-Marfil V, Palomo R, Mena R, Sánchez A, Del Campo M, Lapunzina P. CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms. Am J Med Genet A. 2010 Jun;152A(6):1390-7. doi: 10.1002/ajmg.a.33453. Review. PubMed citation
Weksberg R, Shuman C, Smith AC. Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):12-23. Review. PubMed citation


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