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Fingerprint Dive into the research topics where Claudia Cesaretti is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Research Output

Hb Milano [α109(G16)Leu→Pro (CTG>CCG); HBA1: c.329T>C]: A Novel Variant on the α1-Globin Gene in an Italian Family

Curcio, C., Giannone, V., Benzoni, E., Cesaretti, C. & Ivaldi, G., Jan 1 2019, In : Hemoglobin. 43, 1, p. 4-6

Research output: Contribution to journalArticle

  • Risk of optic pathway glioma in neurofibromatosis type 1: No evidence of genotype–phenotype correlations in a large independent cohort

    Melloni, G., Eoli, M., Cesaretti, C., Bianchessi, D., Ibba, M. C., Esposito, S., Scuvera, G., Morcaldi, G., Micheli, R., Piozzi, E., Avignone, S., Chiapparini, L., Pantaleoni, C., Natacci, F., Finocchiaro, G. & Saletti, V., Dec 2019, In : Cancers. 11, 12, 1838.

    Research output: Contribution to journalArticle

    Open Access
  • SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

    Shaw, N. D., Brand, H., Kupchinsky, Z. A., Bengani, H., Plummer, L., Jones, T. I., Erdin, S., Williamson, K. A., Rainger, J., Stortchevoi, A., Samocha, K., Currall, B. B., Dunican, D. S., Collins, R. L., Willer, J. R., Lek, A., Lek, M., Nassan, M., Pereira, S., Kammin, T. & 58 others, Lucente, D., Silva, A., Seabra, C. M., Chiang, C., An, Y., Ansari, M., Rainger, J. K., Joss, S., Smith, J. C., Lippincott, M. F., Singh, S. S., Patel, N., Jing, J. W., Law, J. R., Ferraro, N., Verloes, A., Rauch, A., Steindl, K., Zweier, M., Scheer, I., Sato, D., Okamoto, N., Jacobsen, C., Tryggestad, J., Chernausek, S., Schimmenti, L. A., Brasseur, B., Cesaretti, C., Garciá-Ortiz, J. E., Buitrago, T. P., Silva, O. P., Hoffman, J. D., Mühlbauer, W., Ruprecht, K. W., Loeys, B. L., Shino, M., Kaindl, A. M., Cho, C. H., Morton, C. C., Meehan, R. R., Van Heyningen, V., Liao, E. C., Balasubramanian, R., Hall, J. E., Seminara, S. B., MacArthur, D., Moore, S. A., Yoshiura, K. I., Gusella, J. F., Marsh, J. A., Graham, J. M., Lin, A. E., Katsanis, N., Jones, P. L., Crowley, W. F., Davis, E. E., Fitzpatrick, D. R. & Talkowski, M. E., Jan 31 2017, In : Nature Genetics. 49, 2, p. 238-248 11 p.

    Research output: Contribution to journalArticle

  • The absence that makes the difference: choroidal abnormalities in Legius syndrome

    Tucci, A., Saletti, V., Menni, F., Cesaretti, C., Scuvera, G., Esposito, S., Melloni, G., Esposito, S., Milani, D., Cereda, C., Cigada, M., Tresoldi, L., Viola, F. & Natacci, F., Nov 2017, In : Journal of Human Genetics. 62, 11, p. 1001-1004 4 p.

    Research output: Contribution to journalArticle