Skeletal Phenotype in Mulibrey Nanism, A Monogenic Skeletal Dysplasia With Fibrous Dysplasia

Karlberg, S., Toiviainen-Salo, S., Lipsanen-Nyman, M. & Mäkitie, O., Mar 2025, In: Clinical Genetics. 107, 3, p. 271-277 7 p.

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Germline mutations in a G protein identify signaling cross-talk in T cells

Ham, H., Jing, H., Lamborn, I. T., Kober, M. M., Koval, A., Berchiche, Y. A., Anderson, D. E., Druey, K. M., Mandl, J. N., Isidor, B., Ferreira, C. R., Freeman, A. F., Ganesan, S., Karsak, M., Mustillo, P. J., Teo, J., Zolkipli-Cunningham, Z., Chatron, N., Lecoquierre, F. & Oler, A. J. & 82 others, Schmid, J. P., Kuhns, D. B., Xu, X., Hauck, F., Al-Herz, W., Wagner, M., Terhal, P. A., Muurinen, M., Barlogis, V., Cruz, P., Danielson, J., Stewart, H., Loid, P., Rading, S., Keren, B., Pfundt, R., Zarember, K. A., Vill, K., Potocki, L., Olivier, K. N., Lesca, G., Faivre, L., Wong, M., Puel, A., Chou, J., Tusseau, M., Moutsopoulos, N. M., Matthews, H. F., Simons, C., Taft, R. J., Soldatos, A., Masle-Farquhar, E., Pittaluga, S., Brink, R., Fink, D. L., Kong, H. H., Kabat, J., Kim, W. S., Bierhals, T., Meguro, K., Hsu, A. P., Gu, J., Stoddard, J., Banos-Pinero, B., Slack, M., Trivellin, G., Mazel, B., Soomann, M., Li, S., Watts, V. J., Stratakis, C. A., Rodriguez-Quevedo, M. F., Bruel, A. L., Lipsanen-Nyman, M., Saultier, P., Jain, R., Lehalle, D., Torres, D., Sullivan, K. E., Barbarot, S., Neu, A., Duffourd, Y., Similuk, M., McWalter, K., Blanc, P., Bézieau, S., Jin, T., Geha, R. S., Casanova, J. L., Mäkitie, O. M., Kubisch, C., Edery, P., Christodoulou, J., Germain, R. N., Goodnow, C. C., Sakmar, T. P., Billadeau, D. D., Küry, S., Katanaev, V. L., Zhang, Y., Lenardo, M. J. & Su, H. C., 20 Sept 2024, In: Science (New York, N.Y.). 385, 6715, 18 p., eadd8947.

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Vascular structure and stiffness in pediatric Mulibrey nanism using ultra-high frequency ultrasound

Sarkola, T., Lipsanen-Nyman, M., Jalanko, H. & Jokinen, E., 23 Oct 2023, In: Veins and Lymphatics. 12, 1, 11826.

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Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome

Loid, P., Lipsanen-Nyman, M., Ala-Mello, S., Hannula-Jouppi, K., Kere, J., Mäkitie, O. & Muurinen, M., 4 Oct 2022, In: Frontiers in pediatrics. 10, 6 p., 969881.

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Liver pathology and biochemistry in patients with mutations in TRIM37 gene (Mulibrey nanism)

Sivunen, J., Karlberg, S., Kivisaari, R., Lohi, J., Karlberg, N., Jokinen, E., Sarkola, T., Jahnukainen, T., Lipsanen-Nyman, M. & Jalanko, H., Jun 2022, In: Liver International. 42, 6, p. 1369-1378 10 p.

Research output: Contribution to journal › Article › Scientific › peer-review