Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Method to Extend Research in Time (MERIT) Award (R37)
Project #
3R37HD017711-06S1
Application #
3485132
Study Section
Mammalian Genetics Study Section (MGN)
Project Start
1983-04-01
Project End
1993-03-30
Budget Start
1988-04-01
Budget End
1989-03-30
Support Year
6
Fiscal Year
1988
Total Cost
Indirect Cost
Name
Baylor College of Medicine
Department
Type
Schools of Medicine
DUNS #
074615394
City
Houston
State
TX
Country
United States
Zip Code
77030
Enns, G M; Martinez, D R; Kuzmin, A I et al. (1999) Molecular correlations in phenylketonuria: mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population. Pediatr Res 46:594-602
Eisensmith, R C; Martinez, D R; Kuzmin, A I et al. (1996) Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population. Pediatrics 97:512-6
Santos, M; Kuzmin, A I; Eisensmith, R C et al. (1996) Phenylketonuria in Costa Rica: preliminary spectrum of PAH mutations and their associations with highly polymorphic haplotypes. Hum Hered 46:128-31
Eisensmith, R C; Woo, S L (1995) Molecular genetics of phenylketonuria: from molecular anthropology to gene therapy. Adv Genet 32:199-271
Eisensmith, R C; Goltsov, A A; Woo, S L (1994) A simple, rapid, and highly informative PCR-based procedure for prenatal diagnosis and carrier screening of phenylketonuria. Prenat Diagn 14:1113-8
Li, J; Eisensmith, R C; Wang, T et al. (1994) Phenylketonuria in China: identification and characterization of three novel nucleotide substitutions in the human phenylalanine hydroxylase gene. Hum Mutat 3:312-4
Wang, Y; Hahn, T M; Tsai, S Y et al. (1994) Functional characterization of a unique liver gene promoter. J Biol Chem 269:9137-46
Svensson, E; von Dobeln, U; Eisensmith, R C et al. (1993) Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients. Eur J Pediatr 152:132-9
Goltsov, A A; Eisensmith, R C; Naughton, E R et al. (1993) A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria. Hum Mol Genet 2:577-81
Svensson, E; Wang, Y; Eisensmith, R C et al. (1993) Three polymorphisms but no disease-causing mutations in the proximal part of the promoter of the phenylalanine hydroxylase gene. Eur J Hum Genet 1:306-13

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