Genetic and Molecular Studies of Connective Tissue Disorders

Displaying 1 - 5 of 5CSV
Edwards, N. A., Rankin, S. A., Kashyap, A., Warren, A., Agricola, Z. N., Kenny, A. P., Kofron, M., Shen, Y., Chung, W. K., & Zorn, A. M. (2025). Disrupted endosomal trafficking of the Vangl-Celsr polarity complex underlies congenital anomalies in Xenopus trachea-esophageal morphogenesis. Developmental Cell. https://doi.org/10.1016/j.devcel.2025.04.026
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Nicoletti, P., Zafer, S., Matok, L., Irron, I., Patrick, M., Haklai, R., Evangelista, J. E., Marino, G. B., Ma’ayan, A., Sewda, A., Holmes, G., Britton, S. R., Lee, W. J., Wu, M., Ru, Y., Arnaud, E., Botto, L., Brody, L. C., Byren, J. C., … Peter, I. (2024). Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits. Genetics in Medicine Open, 2, 101851. https://doi.org/10.1016/j.gimo.2024.101851
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LaValley, M. N., Zappi, K., Guadix, S. W., Giantini-Larsen, A. M., Garton, A. L. A., Heier, L. A., Imahiyerobo, T. A., & Hoffman, C. E. (2022). Complications in craniosynostosis surgery in patients with rickets: illustrative case and systematic review of literature. Journal of Neurosurgery: Case Lessons, 4(25). https://doi.org/10.3171/case22388
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Sherafati, A., Elsekaily, O., Saadatagah, S., Kochan, D. C., Lee, C., Wiesner, G. L., Liu, C., Dellefave-Castillo, L., Namjou, B., Perez, E. F., Salvati, Z. M., Connolly, J. J., Hakonarson, H., Williams, M. S., Jarvik, G. P., Chung, W. K., McNally, E. M., Manolio, T. A., & Kullo, I. J. (2022). Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results. Genetics in Medicine, 24(10), 2123–2133. https://doi.org/10.1016/j.gim.2022.07.007
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Farooqi, N., Metherell, L. A., Schrauwen, I., Acharya, A., Khan, Q., Nouel Saied, L. M., Ali, Y., El-Serehy, H. A., Jalil, F., & Leal, S. M. (2021). Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction. Genes, 12(12), 1915. https://doi.org/10.3390/genes12121915
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