The continuation of a long-standing protocol conducting diagnostic studies on diverse endocrine disorders involving the adrenal cortex. The hypothesis underlying these studies is that precise correlation may be established between the clinical phenotype and the genotype in those conditions (a) for which the determinant gene has been established, and (b) for which a locus of mutation may be identified in the next period of investigation. We will continue to study prenatal diagnosis and treatment in families at risk for 21-hydroxylase deficiency and improve our capacity to make prenatal diagnoses by detection of unknown mutations in affected alleles. We will seek additional mutations by DNA sequencing when genotype does not correlate with phenotype.

Project Start
2000-12-01
Project End
2001-11-30
Budget Start
Budget End
Support Year
11
Fiscal Year
2001
Total Cost
Indirect Cost
Name
Weill Medical College of Cornell University
Department
Type
DUNS #
201373169
City
New York
State
NY
Country
United States
Zip Code
10065
Cunningham-Rundles, Susanna; Ahrné, Siv; Johann-Liang, Rosemary et al. (2011) Effect of probiotic bacteria on microbial host defense, growth, and immune function in human immunodeficiency virus type-1 infection. Nutrients 3:1042-70
Martin, Maureen P; Qi, Ying; Goedert, James J et al. (2010) IL28B polymorphism does not determine outcomes of hepatitis B virus or HIV infection. J Infect Dis 202:1749-53
Cunningham-Rundles, Susanna; Lin, Hong; Ho-Lin, Deborah et al. (2009) Role of nutrients in the development of neonatal immune response. Nutr Rev 67 Suppl 2:S152-63
Peoples, John Denton; Cheung, Sandy; Nesin, Mirjana et al. (2009) Neonatal cord blood subsets and cytokine response to bacterial antigens. Am J Perinatol 26:647-57
Tatad, A M Francesca; Nesin, Mirjana; Peoples, John et al. (2008) Cytokine expression in response to bacterial antigens in preterm and term infant cord blood monocytes. Neonatology 94:8-15
Thio, Chloe L; Astemborski, Jacquie; Thomas, Rasmi et al. (2008) Interaction between RANTES promoter variant and CCR5Delta32 favors recovery from hepatitis B. J Immunol 181:7944-7
Thio, Chloe L; Astemborski, Jacquie; Bashirova, Arman et al. (2007) Genetic protection against hepatitis B virus conferred by CCR5Delta32: Evidence that CCR5 contributes to viral persistence. J Virol 81:441-5
Motaghedi, Roja; Gujral, Sahil; Sinha, Sunil et al. (2007) Insulin-like growth factor binding protein-1 to screen for insulin resistance in children. Diabetes Technol Ther 9:43-51
Diaz, Alejandro; Vogiatzi, Maria G; Sanz, Maureen M et al. (2006) Evaluation of short stature, carbohydrate metabolism and other endocrinopathies in Bloom's syndrome. Horm Res 66:111-7
Vogiatzi, Maria G; Autio, Karen A; Mait, Jeffrey E et al. (2005) Low bone mineral density in adolescents with beta-thalassemia. Ann N Y Acad Sci 1054:462-6

Showing the most recent 10 out of 56 publications