CARNEY COMPLEX - LABORATORY INVESTIGATIONS
1. Stratakis, C. A., Jenkins, R. B., Pras, E., Mitsiadis, C. S., Raff, S. B., Stalboerger, P. G., Tsigos, C., Carney, J. A. & Chrousos, G. P. (1996). Cytogenetic and microsatellite alterations in tumors from patients with the syndrome of myxomas, spotty skin pigmentation, and endocrine overactivity (Carney complex). J Clin Endocrinol Metab 81, 3607-14.
2. Stratakis, C. A., Kirschner, L. S., Taymans, S. E., Tomlinson, I. P., Marsh, D. J., Torpy, D. J., Giatzakis, C., Eccles, D. M., Theaker, J., Houlston, R. S., Blouin, J. L., Antonarakis, S. E., Basson, C. T., Eng, C. & Carney, J. A. (1998). Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci. J Clin Endocrinol Metab 83, 2972-6.
3. Casey, M., Mah, C., Merliss, A. D., Kirschner, L. S., Taymans, S. E., Denio, A. E., Korf, B., Irvine, A. D., Hughes, A., Carney, J. A., Stratakis, C. A. & Basson, C. T. (1998). Identification of a novel genetic locus for familial cardiac myxomas and Carney complex. Circulation 98, 2560-6.
4. Kirschner, L. S., Taymans, S. E., Pack, S., Pak, E., Pike, B. L., Chandrasekharappa, S. C., Zhuang, Z. & Stratakis, C. A. (1999). Genomic mapping of chromosomal region 2p15-p21 (D2S378-D2S391): integration of Genemap'98 within a framework of yeast and bacterial artificial chromosomes. Genomics 62, 21-33.
5. Taymans, S. E., Kirschner, L. S., Giatzakis, C. & Stratakis, C. A. (1999). Radiation hybrid mapping of chromosomal region 2p15-p16: integration of expressed and polymorphic sequences maps at the Carney complex (CNC) and Doyne honeycomb retinal dystrophy (DHRD) loci. Genomics 56, 344-9.
6. Stratakis, C. A., Carney, J. A., Kirschner, L. S., Willenberg, H. S., Brauer, S., Ehrhart-Bornstein, M. & Bornstein, S. R. (1999). Synaptophysin immunoreactivity in primary pigmented nodular adrenocortical disease: neuroendocrine properties of tumors associated with Carney complex. J Clin Endocrinol Metab 84, 1122-8.
7. Kirschner, L. S., Carney, J. A., Pack, S. D., Taymans, S. E., Giatzakis, C., Cho, Y. S., Cho-Chung, Y. S. & Stratakis, C. A. (2000). Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet 26., 89-92.
8. Kirschner, L. S.,
Sandrini, F., Monbo, J., Lin, J. P., Carney, J. A. & Stratakis, C. A.
(2000). Genetic
heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with
the carney complex. Hum Mol Genet 9, 3037-46. (top)
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