Agency
National Institute of Health (NIH)
Institute
National Cancer Institute (NCI)
Type
Clinical Investigator Award (CIA) (K08)
Project #
1K08CA071445-01
Application #
2115069
Study Section
Cancer Research Manpower and Education Review Committee (CRME)
Project Start
1996-09-15
Project End
2001-08-31
Budget Start
1996-09-15
Budget End
1997-08-31
Support Year
1
Fiscal Year
1996
Total Cost
Indirect Cost
Name
Dana-Farber Cancer Institute
Department
Type
DUNS #
149617367
City
Boston
State
MA
Country
United States
Zip Code
02215
Roberts, Penelope S; Chung, Joon; Jozwiak, Sergiusz et al. (2002) SNP identification, haplotype analysis, and parental origin of mutations in TSC2. Hum Genet 111:96-101
Franz, D N; Brody, A; Meyer, C et al. (2001) Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis. Am J Respir Crit Care Med 164:661-8
Dabora, S L; Jozwiak, S; Franz, D N et al. (2001) Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet 68:64-80
Roberts, P S; Jozwiak, S; Kwiatkowski, D J et al. (2001) Denaturing high-performance liquid chromatography (DHPLC) is a highly sensitive, semi-automated method for identifying mutations in the TSC1 gene. J Biochem Biophys Methods 47:33-7
Dabora, S L; Nieto, A A; Franz, D et al. (2000) Characterisation of six large deletions in TSC2 identified using long range PCR suggests diverse mechanisms including Alu mediated recombination. J Med Genet 37:877-83
Choy, Y S; Dabora, S L; Hall, F et al. (1999) Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2. Ann Hum Genet 63:383-91
Dabora, S L; Sigalas, I; Hall, F et al. (1998) Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE. Ann Hum Genet 62:491-504