Agency
National Institute of Health (NIH)
Institute
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Type
Physician Scientist Award (K11)
Project #
5K11DK002138-05
Application #
2133892
Study Section
Diabetes, Endocrinology and Metabolic Diseases B Subcommittee (DDK)
Project Start
1992-09-01
Project End
1997-08-31
Budget Start
1996-09-01
Budget End
1997-08-31
Support Year
5
Fiscal Year
1996
Total Cost
Indirect Cost
Name
Brigham and Women's Hospital
Department
Type
DUNS #
071723621
City
Boston
State
MA
Country
United States
Zip Code
02115
Pollak, M R; Delaney, V B; Graham, R M et al. (1996) Gitelman's syndrome (Bartter's variant) maps to the thiazide-sensitive cotransporter gene locus on chromosome 16q13 in a large kindred. J Am Soc Nephrol 7:2244-8
Hosokawa, Y; Pollak, M R; Brown, E M et al. (1995) Mutational analysis of the extracellular Ca(2+)-sensing receptor gene in human parathyroid tumors. J Clin Endocrinol Metab 80:3107-10
Chou, Y H; Pollak, M R; Brandi, M L et al. (1995) Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia. Am J Hum Genet 56:1075-9
Ho, C; Conner, D A; Pollak, M R et al. (1995) A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Nat Genet 11:389-94
Pollak, M R; Chou, Y H; Marx, S J et al. (1994) Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype. J Clin Invest 93:1108-12
Pollak, M R; Brown, E M; Estep, H L et al. (1994) Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation. Nat Genet 8:303-7
Pollak, M R; Brown, E M; Chou, Y H et al. (1993) Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 75:1297-303
Pollak, M R; Chou, Y H; Cerda, J J et al. (1993) Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2. Nat Genet 5:201-4