Agency
National Institute of Health (NIH)
Institute
National Institute on Aging (NIA)
Type
Modified Research Career Development Award (K04)
Project #
5K04AG000694-03
Application #
2048561
Study Section
General Medicine A Subcommittee 2 (GMA)
Project Start
1995-06-15
Project End
2000-05-31
Budget Start
1996-07-12
Budget End
1997-05-31
Support Year
3
Fiscal Year
1996
Total Cost
Indirect Cost
Name
Columbia University (N.Y.)
Department
Dermatology
Type
Schools of Medicine
DUNS #
167204994
City
New York
State
NY
Country
United States
Zip Code
10032
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
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