CARNEY COMPLEX
Carney Complex - Clinical manifestations (favorite paper)
Carney Complex - Laboratory investigations (favorite paper)
Pituitary Tumors (favorite paper)
Adrenal Tumors and Adrenal cancer (favorite paper)
Hyperaldosteronism (favorite paper)
Genetic Syndromes (favorite paper)


HYPERALDOSTERONISM

1. Taymans, S. E., Pack, S., Pak, E., Torpy, D. J., Zhuang, Z. & Stratakis, C. A. (1998). Human CYP11B2 (aldosterone synthase) maps to chromosome 8q24.3. J Clin Endocrinol Metab 83, 1033-6.

2. Torpy, D. J., Gordon, R. D., Lin, J. P., Huggard, P. R., Taymans, S. E., Stowasser, M., Chrousos, G. P. & Stratakis, C. A. (1998). Familial hyperaldosteronism type II: description of a large kindred and exclusion of the aldosterone synthase (CYP11B2) gene. J Clin Endocrinol Metab 83, 3214-8.

3. Torpy, D. J., Stratakis, C. A. & Chrousos, G. P. (1999). Hyper- and hypoaldosteronism. Vitam Horm 57, 177-216.

4. Torpy, D. J., Stratakis, C. A. & Chrousos, G. P. (2000). Familial hyperaldosteronism. Braz J Med Biol Res 33, 1149-55.

5. Lafferty, A. R., Torpy, D. J., Stowasser, M., Taymans, S. E., Lin, J. P., Huggard, P., Gordon, R. D. & Stratakis, C. A. (2000). A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22). J Med Genet 37, 831-5.

 

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.

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