• 5725 Citations
  • 42 h-Index
1989 …2019
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Fingerprint Dive into the research topics where Anna Savoia is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 7 Similar Profiles
Mutation Medicine & Life Sciences
Fanconi Anemia Medicine & Life Sciences
Thrombocytopenia Medicine & Life Sciences
Genes Medicine & Life Sciences
Blood Platelets Medicine & Life Sciences
Myosin Heavy Chains Medicine & Life Sciences
Nonmuscle Myosin Type IIA Medicine & Life Sciences
Exons Medicine & Life Sciences

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Research Output 1989 2019

  • 5725 Citations
  • 42 h-Index
  • 147 Article
  • 4 Letter
  • 4 Review article
  • 1 Chapter

Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia

Marconi, C., Di Buduo, C. A., LeVine, K., Barozzi, S., Faleschini, M., Bozzi, V., Palombo, F., McKinstry, S., Lassandro, G., Giordano, P., Noris, P., Balduini, C. L., Savoia, A., Balduini, A., Pippucci, T., Seri, M., Katsanis, N. & Pecci, A., 2019, In : Blood. 133, 12, p. 1346-1357 12 p.

Research output: Contribution to journalArticle

Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia

Marconi, C., DI Buduo, C. A., LeVine, K., Barozzi, S., Faleschini, M., Bozzi, V., Palombo, F., McKinstry, S., Lassandro, G., Giordano, P., Noris, P., Balduini, C. L., Savoia, A., Balduini, A., Pippucci, T., Seri, M., Katsanis, N. & Pecci, A., 2019, In : Blood. 133, 12, p. 1346-1357 12 p.

Research output: Contribution to journalArticle

Platelets
Thrombocytopenia
Blood Platelets
Mutation
Megakaryocytes

ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia

Faleschini, M., Melazzini, F., Marconi, C., Giangregorio, T., Pippucci, T., Cigalini, E., Pecci, A., Bottega, R., Ramenghi, U., Siitonen, T., Seri, M., Pastore, A., Savoia, A. & Noris, P., 2018, In : British Journal of Haematology. 183, 2, p. 276-288 13 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia

Faleschini, M., Melazzini, F., Marconi, C., Giangregorio, T., Pippucci, T., Cigalini, E., Pecci, A., Bottega, R., Ramenghi, U., Siitonen, T., Seri, M., Pastore, A., Savoia, A. & Noris, P., Jan 1 2018, (Accepted/In press) In : British Journal of Haematology.

Research output: Contribution to journalArticle

Thrombocytopenia
Blood Platelets
Mutation
Genetic Databases
Actinin

A new form of inherited thrombocytopenia caused by loss-of-function mutations in <em>PTPRJ</em>

Marconi, C., Di Buduo, C. A., LeVine, K., Barozzi, S., Faleschini, M., Bozzi, V., Palombo, F., McKinstry, S., Lassandro, G., Giordano, P., Noris, P., Balduini, C. L., Savoia, A., Balduini, A., Pippucci, T., Seri, M., Katsanis, N. & Pecci, A., Jan 1 2018, In : Blood. p. blood-2018-07-859496

Research output: Contribution to journalArticle

Thrombocytopenia
Blood Platelets
Mutation
Megakaryocytes
Class 3 Receptor-Like Protein Tyrosine Phosphatases