Genetic Diseases, X-Linked

Displaying 1 - 6 of 6CSV
Borna, Š., Lee, E., Nideffer, J., Ramachandran, A., Wang, B., Baker, J., Mavers, M., Lakshmanan, U., Narula, M., Garrett, A. K., Schulze, J., Olek, S., Marois, L., Gernez, Y., Bhatia, M., Chong, H. J., Walter, J., Kitcharoensakkul, M., Lang, A., … Bacchetta, R. (2023). Identification of unstable regulatory and autoreactive effector T cells that are expanded in patients with FOXP3 mutations. Science Translational Medicine, 15(727). https://doi.org/10.1126/scitranslmed.adg6822
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Hernandez-Trujillo, V., Zhou, C., Scalchunes, C., Ochs, H. D., Sullivan, K. E., Cunningham-Rundles, C., Fuleihan, R. L., Bonilla, F. A., Petrovic, A., Rawlings, D. J., & de la Morena, M. T. (2023). A Registry Study of 240 Patients with X-Linked Agammaglobulinemia Living in the USA. Journal of Clinical Immunology, 43(6), 1468–1477. https://doi.org/10.1007/s10875-023-01502-x
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Tran, M., Kolesnikova, M., Kim, A. H., Kowal, T., Ning, K., Mahajan, V. B., Tsang, S. H., & Sun, Y. (2022). Clinical characteristics of high myopia in female carriers of pathogenic RPGR mutations: a case series and review of the literature. Ophthalmic Genetics, 44(3), 295–303. https://doi.org/10.1080/13816810.2022.2113544
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Zeitz, C., Roger, J. E., Audo, I., Michiels, C., Sánchez-Farías, N., Varin, J., Frederiksen, H., Wilmet, B., Callebert, J., Gimenez, M.-L., Bouzidi, N., Blond, F., Guilllonneau, X., Fouquet, S., Léveillard, T., Smirnov, V., Vincent, A., Héon, E., Sahel, J.-A., … Picaud, S. (2023). Shedding light on myopia by studying complete congenital stationary night blindness. Progress in Retinal and Eye Research, 93, 101155. https://doi.org/10.1016/j.preteyeres.2022.101155
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Kim, A. H., Liu, P.-K., Chang, Y.-H., Kang, E. Y.-C., Wang, H.-H., Chen, N., Tseng, Y.-J., Seo, G. H., Lee, H., Liu, L., Chao, A.-N., Chen, K.-J., Hwang, Y.-S., Wu, W.-C., Lai, C.-C., Tsang, S. H., Hsiao, M.-C., & Wang, N.-K. (2022). Congenital Stationary Night Blindness: Clinical and Genetic Features. International Journal of Molecular Sciences, 23(23), 14965. https://doi.org/10.3390/ijms232314965
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O’Toole, D., Groth, D., Wright, H., Bonilla, F. A., Fuleihan, R. L., Cunningham-Rundles, C., Sullivan, K. E., Ochs, H. D., Marsh, R., & Feuille, E. (2022). X-Linked Agammaglobulinemia: Infection Frequency and Infection-Related Mortality in the USIDNET Registry. Journal of Clinical Immunology, 42(4), 827–836. https://doi.org/10.1007/s10875-022-01237-1
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