Ivona Aksentijevich
Genetics and Genomics Branch
National Institute of Arthritis and Musculoskeletal and Skin Diseases
National Institutes of Health
Bethesda
USA
Name/email consistency: high
- The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Aksentijevich, I., D Putnam, C., Remmers, E.F., Mueller, J.L., Le, J., Kolodner, R.D., Moak, Z., Chuang, M., Austin, F., Goldbach-Mansky, R., Hoffman, H.M., Kastner, D.L. Arthritis Rheum. (2007)
- The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. Aksentijevich, I., Galon, J., Soares, M., Mansfield, E., Hull, K., Oh, H.H., Goldbach-Mansky, R., Dean, J., Athreya, B., Reginato, A.J., Henrickson, M., Pons-Estel, B., O'Shea, J.J., Kastner, D.L. Am. J. Hum. Genet. (2001)
- Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Aksentijevich, I., Torosyan, Y., Samuels, J., Centola, M., Pras, E., Chae, J.J., Oddoux, C., Wood, G., Azzaro, M.P., Palumbo, G., Giustolisi, R., Pras, M., Ostrer, H., Kastner, D.L. Am. J. Hum. Genet. (1999)
