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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.

  • 10 Similar Profiles
beta-Thalassemia Medicine & Life Sciences
Magnetic Resonance Imaging Medicine & Life Sciences
Neurofibromatosis 1 Medicine & Life Sciences
Fetus Medicine & Life Sciences
Agenesis of Corpus Callosum Medicine & Life Sciences
Brain Medicine & Life Sciences
Gestational Age Medicine & Life Sciences
Growth Differentiation Factor 15 Medicine & Life Sciences

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Research Output 2008 2019

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

Globins
Hemoglobins
Genes
Capillary electrophoresis
Gene Deletion

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
Optic Nerve Glioma
Neurofibromatosis 1
Mutation
Serine
Cysteine

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

Muscular Dystrophies
Mutation
Clustered Regularly Interspaced Short Palindromic Repeats
Facioscapulohumeral Muscular Dystrophy
Gene Expression Profiling

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

Neurofibromatosis 1
Light
Ophthalmoscopy
Neurofibroma
Legius syndrome