Duplication of the SOX3 gene in an sry-negative 46,XX male with associated congenital anomalies of kidneys and the urinary tract: Case report and review of the literature

Autor: Tasic V, Mitrotti A, Riepe FG, Kulle AE, Laban N, Polenakovic M, Plaseska-Karanfilska D, Sanna-Cherchi S, Kostovski M, Gucev Z

Publikováno v: Balkan Journal of Medical Genetics, Vol 22, Iss 1, Pp 81-88 (2019)

Disorders of sex development (DSD) are a group of rare conditions characterized by discrepancy between chromosomal sex, gonads and external genitalia. Congenital abnormalities of the kidney and urinary tract are often associated with DSD, mostly in m

Externí odkaz: https://doaj.org/article/3689e0aa91e7417bafd04f5ae92fb96c

X-Linked Recessive Form of Nephrogenic Diabetes Insipidus in A 7-Year-Old Boy

Autor: Janchevska A., Tasic V., Gucev Z., Krstevska-Konstantinova M., Cheong H. I.

Publikováno v: Balkan Journal of Medical Genetics, Vol 17, Iss 2, Pp 81-85 (2014)

Nephrogenic diabetes insipidus (NDI) is caused by the inability of renal collecting duct cells to respond to arginine vasopressin (AVP)/antidiuretic hormone (ADH). We present the case of a 7-year-old boy with a history of excretion of large amounts o

Externí odkaz: https://doaj.org/article/6e25a0a5872c4280af09df7b4454c55b

Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract (Nature Genetics, (2019), 51, 1, (117-127), 10.1038/s41588-018-0281-y)

Autor: Verbitsky, M., Westland, R., Perez, A., Kiryluk, K., Liu, Q., Krithivasan, P., Mitrotti, A., Fasel, D. A., Batourina, E., Sampson, M. G., Bodria, M., Werth, M., Kao, C., Martino, J., Capone, V. P., Vivante, A., Shril, S., Kil, B. H., Marasa, M., Zhang, J. Y., Y. -J., Na, Lim, T. Y., Ahram, D., Weng, P. L., Heinzen, E. L., Carrea, A., Piaggio, G., Gesualdo, L., Manca, V., Masnata, G., Gigante, M., Cusi, D., Izzi, C., Scolari, F., van Wijk, J. A. E., Saraga, M., Santoro, D., Conti, G., Zamboli, P., White, H., Drozdz, D., Zachwieja, K., Miklaszewska, M., Tkaczyk, M., Tomczyk, D., Krakowska, A., Sikora, P., Jarmolinski, T., Borszewska-Kornacka, M. K., Pawluch, R., Szczepanska, M., Adamczyk, P., Mizerska-Wasiak, M., Krzemien, G., Szmigielska, A., Zaniew, M., Dobson, M. G., Darlow, J. M., Puri, P., Barton, D. E., Furth, S. L., Warady, B. A., Gucev, Z., Lozanovski, V. J., Tasic, V., Pisani, I., Allegri, L., Rodas, L. M., Campistol, J. M., Jeanpierre, C., Alam, S., Casale, P., Wong, C. S., Lin, F., Miranda, D. M., Oliveira, E. A., Simoes-e-Silva, A. C., Barasch, J. M., Levy, B., Wu, N., Hildebrandt, F., Ghiggeri, G. M., Latos-Bielenska, A., Materna-Kiryluk, A., Zhang, F., Hakonarson, H., Papaioannou, V. E., Mendelsohn, C. L., Gharavi, A. G., Sanna-Cherchi, S.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3978::e76e82371969da1ace2675a33cb05ca0
http://hdl.handle.net/11570/3148929

GROWTH HORMONE DEFICIENCY (GHD) AND SMALL FOR GESTATIONAL AGE (SGA): GENETIC ALTERATIONS.

Autor: Jancevska, A.^1,2, Gucev, Z. S.^1,2 gucevz@gmail.com, Pop-Jordanova, N.^1,2, Tasic, V.^1,2

Publikováno v: Contributions of Macedonian Academy of Sciences & Arts. 2009, Vol. 30 Issue 2, p33-55. 23p.

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