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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.

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

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Research Output 2008 2019

  • 291 Citations
  • 7 h-Index
  • 23 Article
  • 1 Letter

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

Capillary electrophoresis
Gene Deletion
1 Citation (Scopus)

NF1 alterations are linked to increased HER2 expression in breast cancer-letter

Gambini, D., Natacci, F., Cesaretti, C. & Fusco, N., Mar 1 2019, In : Cancer Prevention Research. 12, 3, 1 p.

Research output: Contribution to journalLetter

38 Citations (Scopus)

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
Clustered Regularly Interspaced Short Palindromic Repeats
Facioscapulohumeral Muscular Dystrophy
Gene Expression Profiling
2 Citations (Scopus)

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
Legius syndrome
9 Citations (Scopus)

Diagnostic value of prenatal MR imaging in the detection of brain malformations in fetuses before the 26th week of gestational age

Giorgio, C., Parazzini, C., Falanga, G., Cesaretti, C., Izzo, G., Rustico, M. & Righini, A., May 1 2016, In : American Journal of Neuroradiology. 37, 5, p. 946-951 6 p.

Research output: Contribution to journalArticle

Gestational Age
Vascular Malformations