• 317 Citations
  • 9 h-Index
20112018
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Fingerprint Dive into the research topics where Roberta Bottega is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 10 Similar Profiles
Fanconi Anemia Medicine & Life Sciences
Mutation Medicine & Life Sciences
Thrombocytopenia Medicine & Life Sciences
Energy Metabolism Medicine & Life Sciences
Blood Platelets Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Homeostasis Medicine & Life Sciences
Genes Medicine & Life Sciences

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Research Output 2011 2018

  • 317 Citations
  • 9 h-Index
  • 21 Article
  • 3 Letter

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

Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia

Bottega, R., Nicchia, E., Cappelli, E., Ravera, S., De Rocco, D., Faleschini, M., Corsolini, F., Pierri, F., Calvillo, M., Russo, G., Casazza, G., Ramenghi, U., Farruggia, P., Dufour, C. & Savoia, A., Mar 2018, In : Haematologica. 103, 3, p. 417-426 10 p.

Research output: Contribution to journalArticle

Fanconi Anemia
Fanconi Anemia Complementation Group Proteins
Phenotype
Mutation
Adenosine Monophosphate
4 Citations (Scopus)

Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia

Bottega, R., Nicchia, E., Cappelli, E., Ravera, S., De Rocco, D., Faleschini, M., Corsolini, F., Pierri, F., Calvillo, M., Russo, G., Casazza, G., Ramenghi, U., Farruggia, P., Dufour, C. & Savoia, A., Feb 28 2018, In : Haematologica. 103, 3, p. 417-426 10 p.

Research output: Contribution to journalArticle

Fanconi Anemia
Fanconi Anemia Complementation Group Proteins
Phenotype
Mutation
Adenosine Monophosphate

Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia

Bottega, R., Nicchia, E., Cappelli, E., Ravera, S., De Rocco, D., Faleschini, M., Corsolini, F., Pierri, F., Calvillo, M., Russo, G., Casazza, G., Ramenghi, U., Farruggia, P., Dufour, C. & Savoia, A., 2018, In : Haematologica. 103, 3, p. 417-426 10 p.

Research output: Contribution to journalArticle