• 326 Citations
  • 9 h-Index
20112018
If you made any changes in Pure these will be visible here soon.

Research Output 2011 2018

  • 326 Citations
  • 9 h-Index
  • 21 Article
  • 3 Letter
2018
2 Citations (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

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

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

2017
14 Citations (Scopus)

Defects in mitochondrial energetic function compels Fanconi Anaemia cells to glycolytic metabolism

Cappelli, E., Cuccarolo, P., Stroppiana, G., Miano, M., Bottega, R., Cossu, V., Degan, P. & Ravera, S., Jun 1 2017, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1863, 6, p. 1214-1221 8 p.

Research output: Contribution to journalArticle

Fanconi Anemia
Hematopoietic Stem Cells
Bone Marrow
Oxidative Phosphorylation
NAD
14 Citations (Scopus)

Defects in mitochondrial energetic function compels Fanconi Anaemia cells to glycolytic metabolism

Cappelli, E., Cuccarolo, P., Stroppiana, G., Miano, M., Bottega, R., Cossu, V., Degan, P. & Ravera, S., 2017, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1863, 6, p. 1214-1221 8 p.

Research output: Contribution to journalArticle

5 Citations (Scopus)

Gray platelet syndrome: Novel mutations of the NBEAL2 gene

Bottega, R., Nicchia, E., Alfano, C., Glembotsky, A. C., Pastore, A., Bertaggia-Calderara, D., Bisig, B., Duchosal, M. A., Arbesú, G., Alberio, L., Heller, P. G. & Savoia, A., Feb 1 2017, In : American Journal of Hematology. 92, 2, p. E20-E22

Research output: Contribution to journalLetter

4 Citations (Scopus)

Mutations of RUNX1 in families with inherited thrombocytopenia

De Rocco, D., Melazzini, F., Marconi, C., Pecci, A., Bottega, R., Gnan, C., Palombo, F., Giordano, P., Coccioli, M. S., Glembotsky, A. C., Heller, P. G., Seri, M., Savoia, A. & Noris, P., Jun 1 2017, In : American Journal of Hematology. 92, 6, p. E86-E88

Research output: Contribution to journalLetter

5 Citations (Scopus)

Mutations of RUNX1 in families with inherited thrombocytopenia

De Rocco, D., Melazzini, F., Marconi, C., Pecci, A., Bottega, R., Gnan, C., Palombo, F., Giordano, P., Coccioli, M. S., Glembotsky, A. C., Heller, P. G., Seri, M., Savoia, A. & Noris, P., Jun 1 2017, In : American Journal of Hematology. 92, 6, p. E86-E88

Research output: Contribution to journalLetter

5 Citations (Scopus)

Mutations of RUNX1 in families with inherited thrombocytopenia

De Rocco, D., Melazzini, F., Marconi, C., Pecci, A., Bottega, R., Gnan, C., Palombo, F., Giordano, P., Coccioli, M. S., Glembotsky, A. C., Heller, P. G., Seri, M., Savoia, A. & Noris, P., Jun 2017, In : American Journal of Hematology. 92, 6, p. E86-E88

Research output: Contribution to journalArticle

2016

Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome

Ravera, S., Dufour, C., Cesaro, S., Bottega, R., Faleschini, M., Cuccarolo, P., Corsolini, F., Usai, C., Columbaro, M., Cipolli, M., Savoia, A., Degan, P. & Cappelli, E., May 5 2016, In : Scientific Reports. 6, 25441.

Research output: Contribution to journalArticle

Energy Metabolism
Homeostasis
Calcium
Phosphorylation
Bone Neoplasms

Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome

Ravera, S., Dufour, C., Cesaro, S., Bottega, R., Faleschini, M., Cuccarolo, P., Corsolini, F., Usai, C., Columbaro, M., Cipolli, M., Savoia, A., Degan, P. & Cappelli, E., May 5 2016, In : Scientific Reports. 6, 12 p., 25441.

Research output: Contribution to journalArticle

Energy Metabolism
Homeostasis
Calcium
Phosphorylation
Bone Neoplasms

Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome

Ravera, S., Dufour, C., Cesaro, S., Bottega, R., Faleschini, M., Cuccarolo, P., Corsolini, F., Usai, C., Columbaro, M., Cipolli, M., Savoia, A., Degan, P. & Cappelli, E., May 5 2016, In : Scientific Reports. 6, 25441.

Research output: Contribution to journalArticle

Energy Metabolism
Homeostasis
Calcium
Phosphorylation
Bone Neoplasms
2015
32 Citations (Scopus)

ACTN1-related thrombocytopenia: Identification of novel families for phenotypic characterization

Bottega, R., Marconi, C., Faleschini, M., Baj, G., Cagioni, C., Pecci, A., Pippucci, T., Ramenghi, U., Pardini, S., Ngu, L., Baronci, C., Kunishima, S., Balduini, C. L., Seri, M., Savoia, A. & Noris, P., Jan 29 2015, In : Blood. 125, 5, p. 869-872 4 p.

Research output: Contribution to journalArticle

Thrombocytopenia
Actinin
Thrombopoietin
Gene encoding
Amino Acid Substitution
3 Citations (Scopus)

Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing

Nicchia, E., Benedicenti, F., Rocco, D. D., Greco, C., Bottega, R., Inzana, F., Faleschini, M., Bonin, S., Cappelli, E., Mogni, M., Stanzial, F., Svahn, J., Dufour, C. & Savoia, A., Dec 1 2015, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 103, 12, p. 1003-1010 8 p.

Research output: Contribution to journalArticle

Fanconi Anemia
Mutation
Genes
Aborted Fetus
Phenotype
5 Citations (Scopus)

Inhibition of metalloproteinase activity in FANCA Is linked to altered oxygen metabolism

Ravera, S., Capanni, C., Tognotti, D., Bottega, R., Columbaro, M., Dufour, C., Cappelli, E. & Degan, P., Mar 1 2015, In : Journal of Cellular Physiology. 230, 3, p. 603-609 7 p.

Research output: Contribution to journalArticle

Metalloproteases
Metabolism
Fanconi Anemia
Oxygen
Defects
2014
32 Citations (Scopus)

Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia

Noris, P., Schlegel, N., Klersy, C., Heller, P. G., Civaschi, E., Pujol-Moix, N., Fabris, F., Favier, R., Gresele, P., Latger-Cannard, V., Cuker, A., Nurden, P., Greinacher, A., Cattaneo, M., De Candia, E., Pecci, A., Hurtaud-Roux, M. F., Glembotsky, A. C., Muñiz-Diaz, E., Randi, M. L. & 45 others, Trillot, N., Bury, L., Lecompte, T., Marconi, C., Savoia, A., Balduini, C. L., Bayart, S., Bauters, A., Benabdallah-Guedira, S., Boehlen, F., Borg, J. Y., Bottega, R., Bussel, J., De Rocco, D., de Maistre, E., Faleschini, M., Falcinelli, E., Ferrari, S., Ferster, A., Fierro, T., Fleury, D., Fontana, P., James, C., Lanza, F., Duchez, V. L. C., Loffredo, G., Magini, P., Martin-Coignard, D., Menard, F., Mercier, S., Mezzasoma, A., Minuz, P., Nichele, I., Notarangelo, L. D., Pippucci, T., Podda, G. M., Pouymayou, C., Rigouzzo, A., Royer, B., Sie, P., Siguret, V., Trichet, C., Tucci, A., Saposnik, B. & Veneri, D., Aug 1 2014, In : Haematologica. 99, 8, p. 1387-1394 8 p.

Research output: Contribution to journalArticle

Thrombocytopenia
Hemorrhage
Pregnancy
Mothers
Newborn Infant
22 Citations (Scopus)

Molecular analysis of Fanconi anemia: The experience of the bone marrow failure study group of the Italian Association of Pediatric Onco-Hematology

De Rocco, D., Bottega, R., Cappelli, E., Cavani, S., Criscuolo, M., Nicchia, E., Corsolini, F., Greco, C., Borriello, A., Svahn, J., Pillon, M., Mecucci, C., Casazza, G., Verzegnassi, F., Cugno, C., Locasciulli, A., Farruggia, P., Longoni, D., Ramenghi, U., Barberi, W. & 7 others, Tucci, F., Perrotta, S., Grammatico, P., Hanenberg, H., Ragione, F. D., Dufour, C. & Savoia, A., Jun 1 2014, In : Haematologica. 99, 6, p. 1022-1031 10 p.

Research output: Contribution to journalArticle

Fanconi Anemia
Hematology
Bone Marrow
Pediatrics
Mutation
2013
32 Citations (Scopus)

Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency

Bottega, R., Pecci, A., De Candia, E., Pujol-Moix, N., Heller, P. G., Noris, P., De Rocco, D., Podda, G. M., Glembotsky, A. C., Cattaneo, M., Balduini, C. L. & Savoia, A., 2013, In : Haematologica. 98, 6, p. 868-874 7 p.

Research output: Contribution to journalArticle

Gray Platelet Syndrome
Thrombocytopenia
Blood Platelets
Genotype
Phenotype
4 Citations (Scopus)

Fanconi anemia patients are more susceptible to infection with tumor virus SV40

Comar, M., De Rocco, D., Cappelli, E., Zanotta, N., Bottega, R., Svahn, J., Farruggia, P., Misuraca, A., Corsolini, F., Dufour, C. & Savoia, A., Nov 18 2013, In : PLoS One. 8, 11, e79683.

Research output: Contribution to journalArticle

Tumor Virus Infections
Simian virus 40
Fanconi Anemia
biological resistance
Viruses
20 Citations (Scopus)

MYH9-related disease: Five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations

De Rocco, D., Zieger, B., Platokouki, H., Heller, P. G., Pastore, A., Bottega, R., Noris, P., Barozzi, S., Glembotsky, A. C., Pergantou, H., Balduini, C. L., Savoia, A. & Pecci, A., Jan 2013, In : European Journal of Medical Genetics. 56, 1, p. 7-12 6 p.

Research output: Contribution to journalArticle

Genetic Association Studies
Mutation
Myosins
Nonmuscle Myosin Type IIA
Inclusion Bodies
2012
63 Citations (Scopus)

Clinical and laboratory features of 103 patients from 42 italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of gpibα (Bolzano mutation)

Noris, P., Perrotta, S., Bottega, R., Pecci, A., Melazzini, F., Civaschi, E., Russo, S., Magrin, S., Loffredo, G., Salvo, V. D., Russo, G., Casale, M., de Rocco, D., Grignani, C., Cattaneo, M., Baronci, C., Dragani, A., Albano, V., Jankovic, M., Scianguetta, S. & 2 others, Savoia, A. & Balduini, C. L., Jan 1 2012, In : Haematologica. 97, 1, p. 82-88 7 p.

Research output: Contribution to journalArticle

Thrombocytopenia
Mutation
Bernard-Soulier Syndrome
Italy
Blood Platelets
2011
60 Citations (Scopus)

Clinical and genetic aspects of Bernard-Soulier syndrome: Searching for genotype/phenotype correlations

Savoia, A., Pastore, A., de Rocco, D., Civaschi, E., di Stazio, M., Bottega, R., Melazzini, F., Bozzi, V., Pecci, A., Magrin, S., Balduini, C. L. & Noris, P., Mar 2011, In : Haematologica. 96, 3, p. 417-423 7 p.

Research output: Contribution to journalArticle

Bernard-Soulier Syndrome
Genetic Association Studies
Blood Platelets
Mutation
Hemorrhage