Publications

GENETIC SYNDROMES

1. Stratakis, C. A., Lafferty, A., Taymans, S. E., Gafni, R. I., Meck, J. M. & Blancato, J. (2000). Anisomastia associated with interstitial duplication of chromosome 16, mental retardation, obesity, dysmorphic facies, and digital anomalies: molecular mapping of a new syndrome by fluorescent in situ hybridization and microsatellites to 16q13 (D16S419-D16S503). J Clin Endocrinol Metab 85, 3396-401.

2. Boardman, L. A., Couch, F. J., Burgart, L. J., Schwartz, D., Berry, R., McDonnell, S. K., Schaid, D. J., Hartmann, L. C., Schroeder, J. J., Stratakis, C. A. & Thibodeau, S. N. (2000). Genetic heterogeneity in Peutz-Jeghers syndrome. Hum Mutat 16, 23-30.

3. Stratakis, C. A. & Rennert, O. M. (1999). Congenital adrenal hyperplasia: molecular genetics and alternative approaches to treatment. Crit Rev Clin Lab Sci 36, 329-63.

4. Heino, M., Scott, H. S., Chen, Q., Peterson, P., Maebpaa, U., Papasavvas, M. P., Mittaz, L., Barras, C., Rossier, C., Chrousos, G. P., Stratakis, C. A., Nagamine, K., Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, S. E. & Krohn, K. (1999). Mutation analyses of North American APS-1 patients. Hum Mutat 13, 69-74.

5. Stratakis, C. A. (1998). Prader-Willi syndrome phenotype in X chromosome anomalies: evidence for a distinct syndrome. Am J Med Genet 80, 294-5, 300-1.

6. Stratakis, C. A., Vottero, A., Brodie, A., Kirschner, L. S., DeAtkine, D., Lu, Q., Yue, W., Mitsiades, C. S., Flor, A. W. & Chrousos, G. P. (1998). The aromatase excess syndrome is associated with feminization of both sexes and autosomal dominant transmission of aberrant P450 aromatase gene transcription. J Clin Endocrinol Metab 83, 1348-57.

7. Wu, S. M., Stratakis, C. A., Chan, C. H., Hallermeier, K. M., Bourdony, C. J., Rennert, O. M. & Chan, W. Y. (1998). Genetic heterogeneity of adrenocorticotropin (ACTH) resistance syndromes: identification of a novel mutation of the ACTH receptor gene in hereditary glucocorticoid deficiency. Mol Genet Metab 64, 256-65.

8. Stratakis, C. A., Lin, J. P. & Rennert, O. M. (1998). Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss, and ear pits, and exclusion of the branchio-oto-renal (BOR) syndrome gene locus (chromosome 8q13.3). Am J Med Genet 79, 209-14.

9. Stratakis, C. A., Lin, J. P., Pras, E., Rennert, O. M., Bourdony, C. J. & Chan, W. Y. (1997). Segregation of Allgrove (triple-A) syndrome in Puerto Rican kindreds with chromosome 12 (12q13) polymorphic markers. Proc Assoc Am Physicians 109, 478-82.

10. Zouboulis, C. C., Stratakis, C. A., Rinck, G., Wegner, R. D., Gollnick, H. & Orfanos, C. E. (1994). Ulerythema ophryogenes and keratosis pilaris in a child with monosomy 18p. Pediatr Dermatol 11, 172-5.