Urogenital Abnormalities

Displaying 1 - 5 of 5CSV
Zhao, E., Bomback, M., Khan, A., Krishna Murthy, S., Solowiejczyk, D., Vora, N. L., Gilmore, K. L., Giordano, J. L., Wapner, R. J., Sanna‐Cherchi, S., Lyford, A., Jelin, A. C., Gharavi, A. G., & Hays, T. (2024). The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease. Prenatal Diagnosis, 44(3), 343–351. Portico. https://doi.org/10.1002/pd.6527
Publication Date
Riedhammer, K. M., Nguyen, T.-M. T., Koşukcu, C., Calzada-Wack, J., Li, Y., Assia Batzir, N., Saygılı, S., Wimmers, V., Kim, G.-J., Chrysanthou, M., Bakey, Z., Sofrin-Drucker, E., Kraiger, M., Sanz-Moreno, A., Amarie, O. V., Rathkolb, B., Klein-Rodewald, T., Garrett, L., Hölter, S. M., … Hoefele, J. (2024). Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT). Kidney International, 105(4), 844–864. https://doi.org/10.1016/j.kint.2023.11.032
Publication Date
Martino, J., Liu, Q., Vukojevic, K., Ke, J., Lim, T. Y., Khan, A., Gupta, Y., Perez, A., Yan, Z., Milo Rasouly, H., Vena, N., Lippa, N., Giordano, J. L., Saraga, M., Saraga-Babic, M., Westland, R., Bodria, M., Piaggio, G., Bendapudi, P. K., … Sanna-Cherchi, S. (2023). Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies. Genetics in Medicine, 25(12), 100983. https://doi.org/10.1016/j.gim.2023.100983
Publication Date
Leow, E. H., Lee, J. H., Hornik, C. P., Ng, Y. H., Hays, T., Clark, R. H., Tolia, V. N., & Greenberg, R. G. (2022). Congenital anomalies of the kidney and urinary tract (CAKUT) in critically ill infants: a multicenter cohort study. Pediatric Nephrology, 38(1), 161–172. https://doi.org/10.1007/s00467-022-05542-0
Publication Date