SÃndrome de Cowden
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Elia A, Amato C, Bottitta M. An atypical patien with Cowden syndrome and PTEN gene mutation presenting with cortical malformation and focal epilepsy. Brains & Development. 2012;34:873.
Nelen MR, Kremer H, Konings IB. Novel PTEN mutations in patients with Cowden disease: absence of cleargenotype-phenotype correlations. Eur J Hum Genet. 1999;7:267.
Jelovac D, Park BH. PTEN promoter silencing and Cowden syndrome: The role of epigenetic regulation of KILLIN. JAMA. 2010 Dec 22/29;304:2744.
Keniry M, Parsons R. The role of PTEN signalling perturbations in cancer and in targeted therapy. Oncogene. 2008;27:5477.
Bennett KL, Mester J, Eng C. Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome. JAMA. 2010;304:2724.
Almenar R, Bagán J, Sebastián, Milián M. SÃndrome de Cowden: presentación de un caso clÃnico con lesiones orales. Anales de Medicina Interna. 2001;18:8.
Kenneth Y, Bennett KL. Cowden and Cowden-like Syndrome: Tales from the other strand. JAMA. 2010;22:29.
Tan MH, Mester J, Peterson C. A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3 042 probands. Am J Hum Genet. 2011;88:42.
Pilarski R, Stephens JA, Noss R. Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. J Med Genet. 2011;48:505.
McBride KL, Varga EA, Pastore MT. Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly. Autism Res. 2010;3:137.
Ni Y, He X, Chen J. Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53. Hum Mol Genet. 2012;21:300.
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