Research Output per year
Fingerprint Dive into the research topics where Daniela De Rocco is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
- 8 Similar Profiles
Mutation
Medicine & Life Sciences
Thrombocytopenia
Medicine & Life Sciences
Fanconi Anemia
Medicine & Life Sciences
Blood Platelets
Medicine & Life Sciences
Genes
Medicine & Life Sciences
Myosin Heavy Chains
Medicine & Life Sciences
Phenotype
Medicine & Life Sciences
Deafness
Medicine & Life Sciences
Network
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Research Output 2009 2018
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene
Noris, P., Marconi, C., De Rocco, D., Melazzini, F., Pippucci, T., Loffredo, G., Giangregorio, T., Pecci, A., Seri, M. & Savoia, A., 2018, In : British Journal of Haematology. 181, 5, p. 698-701 4 p.Research output: Contribution to journal › Article
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 journal › Article
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 journal › Article
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 journal › Article
1
Citation
(Scopus)
MYH9 -Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder
Zaninetti, C., de Rocco, D., Giangregorio, T., Bozzi, V., Demeter, J., Leoni, P., Noris, P., Ryhänen, S., Barozzi, S., Pecci, A. & Savoia, A., Jul 11 2018, (Accepted/In press) In : Hamostaseologie.Research output: Contribution to journal › Article
Myosin Heavy Chains
Thrombocytopenia
Mutation
Deafness
Amino Acid Substitution