|
Wanner, M; Celebi, J T; Peacocke, M (2001) Identification of a PTEN mutation in a family with Cowden syndrome and Bannayan-Zonana syndrome. J Am Acad Dermatol 44:183-7
|
|
Celebi, J T; Wanner, M; Ping, X L et al. (2000) Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome. Hum Genet 107:234-8
|
|
Celebi, J T; Shendrik, I; Silvers, D N et al. (2000) Identification of PTEN mutations in metastatic melanoma specimens. J Med Genet 37:653-7
|
|
Celebi, J T; Tanzi, E L; Yao, Y J et al. (1999) Mutation report: identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2. J Invest Dermatol 113:848-50
|
|
Tok Celebi, J; Chen, F F; Zhang, H et al. (1999) Identification of PTEN mutations in five families with Bannayan-Zonana syndrome. Exp Dermatol 8:134-9
|
|
Celebi, J T; Tsou, H C; Chen, F F et al. (1999) Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN. J Med Genet 36:360-4
|
|
Tsou, H C; Ping, X L; Xie, X X et al. (1998) The genetic basis of Cowden's syndrome: three novel mutations in PTEN/MMAC1/TEP1. Hum Genet 102:467-73
|
|
Tsou, H C; Teng, D H; Ping, X L et al. (1997) The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases. Am J Hum Genet 61:1036-43
|
