Urogenital Abnormalities

Displaying 1 - 6 of 6CSV
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
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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
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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
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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
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Khan, K., Ahram, D. F., Liu, Y. P., Westland, R., Sampogna, R. V., Katsanis, N., Davis, E. E., & Sanna-Cherchi, S. (2022). Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations. Kidney International, 101(3), 473–484. https://doi.org/10.1016/j.kint.2021.09.034
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