Search

Now showing items 1-2 of 2

MDM2 T309G polymorphism is associated with bladder cancer

Onat, O. E.; Tez, M.; Özçelik, T.; Törüner, G. A. (International Institute of Anticancer Research, 2006)

Recently, a functional T to G polymorphism at nucleotide 309 in the promoter region of the MDM2 gene (rs: 2279744, SNP 309) has been identified. This polymorphism has an impact on the expression of the MDM2 gene, which is ...

Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy

Topçu, M.; Akyerli, C.; Sayi, A.; Törüner, G. A.; Koçoǧlu, S. R.; Cimbiş, M.; Özçelik, T. (Nature Publishing, 2002)

Rett syndrome is a severe neurodevelopmental disorder that arises from mutations in the X-linked MECP2 gene. It is almost exclusively seen in girls due to the predominant occurrence of the mutations on the paternal ...