• 5867 Citations
  • 42 h-Index
1989 …2019
If you made any changes in Pure these will be visible here soon.

Research Output 1989 2019

  • 5867 Citations
  • 42 h-Index
  • 147 Article
  • 4 Letter
  • 4 Review article
  • 1 Chapter
Filter
Article
2019

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
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

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

A new form of inherited thrombocytopenia caused by loss-of-function mutations in PTPRJ

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., Dec 27 2018, In : Blood.

Research output: Contribution to journalArticle

Thrombocytopenia
Blood Platelets
Mutation
Megakaryocytes
Receptor-Like Protein Tyrosine Phosphatases

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

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 journalArticle

Myosin Heavy Chains
Thrombocytopenia
Mutation
Deafness
Amino Acid Substitution
Myosin Heavy Chains
Thrombocytopenia
Mutation
Deafness
Amino Acid Substitution
6 Citations (Scopus)

Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim

Pecci, A., Ragab, I., Bozzi, V., De Rocco, D., Barozzi, S., Giangregorio, T., Ali, H., Melazzini, F., Sallam, M., Alfano, C., Pastore, A., Balduini, C. L. & Savoia, A., Jan 1 2018, In : EMBO Molecular Medicine. 10, 1, p. 63-75 13 p.

Research output: Contribution to journalArticle

Thrombopoietin
Mutation
Thrombopoietin Receptors
Bone Marrow
Aptitude

Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim

Pecci, A., Ragab, I., Bozzi, V., De Rocco, D., Barozzi, S., Giangregorio, T., Ali, H., Melazzini, F., Sallam, M., Alfano, C., Pastore, A., Balduini, C. L. & Savoia, A., Jan 2018, In : EMBO Molecular Medicine. 10, 1, p. 63-75 13 p.

Research output: Contribution to journalArticle

Thrombopoietin
Mutation
Thrombopoietin Receptors
Bone Marrow
Aptitude
2017
4 Citations (Scopus)

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., May 3 2017, In : British Journal of Haematology.

Research output: Contribution to journalArticle

9 Citations (Scopus)

Inherited thrombocytopenia caused by ANKRD26 mutations misdiagnosed and treated as myelodysplastic syndrome: report on two cases

Zaninetti, C., Santini, V., Tiniakou, M., Barozzi, S., Savoia, A. & Pecci, A., Dec 2017, In : Journal of Thrombosis and Haemostasis. 15, 12, p. 2388-2392 5 p.

Research output: Contribution to journalArticle

Myelodysplastic Syndromes
Diagnostic Errors
Thrombocytopenia
Mutation
Bone Marrow Examination
9 Citations (Scopus)

Inherited thrombocytopenia caused by ANKRD26 mutations misdiagnosed and treated as myelodysplastic syndrome: report on two cases

Zaninetti, C., Santini, V., Tiniakou, M., Barozzi, S., Savoia, A. & Pecci, A., Dec 1 2017, In : Journal of Thrombosis and Haemostasis. 15, 12, p. 2388-2392 5 p.

Research output: Contribution to journalArticle

Myelodysplastic Syndromes
Diagnostic Errors
Thrombocytopenia
Mutation
Bone Marrow Examination
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

9 Citations (Scopus)

MYH9 gene mutations associated with bleeding

Savoia, A., De Rocco, D. & Pecci, A., May 2017, In : Platelets. 28, 3, p. 312-315 4 p.

Research output: Contribution to journalArticle

2016

Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia

Melazzini, F., Palombo, F., Balduini, A., De Rocco, D., Marconi, C., Noris, P., Gnan, C., Pippucci, T., Bozzi, V., Faleschini, M., Barozzi, S., Doubek, M., Buduo, C. A. D., Kozubik, K. S., Radova, L., Loffredo, G., Pospisilova, S., Alfano, C., Seri, M., Balduini, C. & 2 others, Pecci, A. & Savoia, A., Oct 31 2016, In : Haematologica. 101, 11, p. 1333-1342 10 p.

Research output: Contribution to journalArticle

Precursor Cell Lymphoblastic Leukemia-Lymphoma
Thrombocytopenia
Blood Platelets
Hematologic Neoplasms
Pedigree
36 Citations (Scopus)

Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia

Melazzini, F., Palombo, F., Balduini, A., De Rocco, D., Marconi, C., Noris, P., Gnan, C., Pippucci, T., Bozzi, V., Faleschini, M., Barozzi, S., Doubek, M., Buduo, C. A. D., Kozubik, K. S., Radova, L., Loffredo, G., Pospisilova, S., Alfano, C., Seri, M., Balduini, C. L. & 2 others, Pecci, A. & Savoia, A., Oct 31 2016, In : Haematologica. 101, 11, p. 1333-1342 10 p.

Research output: Contribution to journalArticle

Precursor Cell Lymphoblastic Leukemia-Lymphoma
Thrombocytopenia
Blood Platelets
Hematologic Neoplasms
Pedigree

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
16 Citations (Scopus)

Molecular basis of inherited thrombocytopenias

Savoia, A., Feb 1 2016, In : Clinical Genetics. 89, 2, p. 154-162 9 p.

Research output: Contribution to journalArticle

Blood Platelets
Genes
6 Citations (Scopus)

Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing

Nicchia, E., Giordano, P., Greco, C., De Rocco, D. & Savoia, A., Aug 1 2016, In : International Journal of Laboratory Hematology. 38, 4, p. 412-418 7 p.

Research output: Contribution to journalArticle

Genes
Chromosomes
Alleles
Chromosome Deletion
Genetic Testing
13 Citations (Scopus)

Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients with MYH9-Related Disease

Verver, E. J. J., Topsakal, V., Kunst, H. P. M., Huygen, P. L. M., Heller, P. G., Pujol-Moix, N., Savoia, A., Benazzo, M., Fierro, T., Grolman, W., Gresele, P. & Pecci, A., 2016, In : Ear and Hearing. 37, 1, p. 112-120 9 p.

Research output: Contribution to journalArticle

Myosin Heavy Chains
Sensorineural Hearing Loss
Mutation
MYH9-Related Disorders
Genotype

Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients with MYH9-Related Disease

Verver, E., Topsakal, V., Kunst, H. P. M., Huygen, P., Heller, P. G., Pujol-Moix, N., Savoia, A., Benazzo, M., Fierro, T., Grolman, W., Gresele, P. & Pecci, A., 2016, In : Ear and Hearing. 37, 1, p. 112-120 9 p.

Research output: Contribution to journalArticle

Myosin Heavy Chains
Sensorineural Hearing Loss
Mutation
MYH9-Related Disorders
Genotype
Fanconi Anemia
Hematopoietic Stem Cell Transplantation
Bone Marrow
Databases
Pediatrics
Fanconi Anemia
Hematopoietic Stem Cell Transplantation
Bone Marrow
Databases
Pediatrics
2015
8 Citations (Scopus)

Abnormal cytoplasmic extensions associated with active αIIbβ3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome

Hauschner, H., Mor-Cohen, R., Messineo, S., Mansour, W., Seligsohn, U., Savoia, A. & Rosenberg, N., Apr 7 2015, In : Blood Coagulation and Fibrinolysis. 26, 3, p. 302-308 7 p.

Research output: Contribution to journalArticle

Thrombasthenia
Mutation
Aptitude
Megakaryocytes
Sequence Deletion
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
135 Citations (Scopus)

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia

Noetzli, L., Lo, R. W., Lee-Sherick, A. B., Callaghan, M., Noris, P., Savoia, A., Rajpurkar, M., Jones, K., Gowan, K., Balduini, C. L., Pecci, A., Gnan, C., De Rocco, D., Doubek, M., Li, L., Lu, L., Leung, R., Landolt-Marticorena, C., Hunger, S., Heller, P. & 8 others, Gutierrez-Hartmann, A., Xiayuan, L., Pluthero, F. G., Rowley, J. W., Weyrich, A. S., Kahr, W. H. A., Porter, C. C. & Di Paola, J., May 30 2015, In : Nature Genetics. 47, 5, p. 535-538 4 p.

Research output: Contribution to journalArticle

Germ-Line Mutation
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Thrombocytopenia
Erythrocyte Indices
Mutation

Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology

Nicchia, E., Greco, C., De Rocco, D., Pecile, V., D'Eustacchio, A., Cappelli, E., Corti, P., Marra, N., Ramenghi, U., Pillon, M., Farruggia, P., Dufour, C., Pallavicini, A., Torelli, L. & Savoia, A., Nov 2015, In : Molecular genetics & genomic medicine. 3, 6, p. 500-12 13 p.

Research output: Contribution to journalArticle

Fanconi Anemia
Point Mutation
Technology
Alleles
Genetic Heterogeneity
6 Citations (Scopus)

R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17

Verver, E., Pecci, A., De Rocco, D., Ryhänen, S., Barozzi, S., Kunst, H., Topsakal, V. & Savoia, A., Jul 1 2015, In : Clinical Genetics. 88, 1, p. 85-89 5 p.

Research output: Contribution to journalArticle

Deafness
Mutation
Sensorineural Hearing Loss
Nonmuscle Myosin Type IIA
Penetrance
2014
34 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
23 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
38 Citations (Scopus)

Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics

De Rocco, D., Cerqua, C., Goffrini, P., Russo, G., Pastore, A., Meloni, F., Nicchia, E., Moraes, C. T., Pecci, A., Salviati, L. & Savoia, A., Feb 2014, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1842, 2, p. 269-274 6 p.

Research output: Contribution to journalArticle

Cytochromes c
Thrombocytopenia
Energy Metabolism
Apoptosis
Mutation
84 Citations (Scopus)

MYH9-related disease: A novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations

Pecci, A., Klersy, C., Gresele, P., Lee, K. J. D., De Rocco, D., Bozzi, V., Russo, G., Heller, P. G., Loffredo, G., Ballmaier, M., Fabris, F., Beggiato, E., Kahr, W. H. A., Pujol-Moix, N., Platokouki, H., Van Geet, C., Noris, P., Yerram, P., Hermans, C., Gerber, B. & 19 others, Economou, M., De Groot, M., Zieger, B., De Candia, E., Fraticelli, V., Kersseboom, R., Piccoli, G. B., Zimmermann, S., Fierro, T., Glembotsky, A. C., Vianello, F., Zaninetti, C., Nicchia, E., Güthner, C., Baronci, C., Seri, M., Knight, P. J., Balduini, C. L. & Savoia, A., Feb 2014, In : Human Mutation. 35, 2, p. 236-247 12 p.

Research output: Contribution to journalArticle

Genetic Association Studies
Deafness
Myosin Heavy Chains
Cataract
Mutation
56 Citations (Scopus)

Platelet diameters in inherited thrombocytopenias: Analysis of 376 patients with all known disorders

Noris, P., Biino, G., Pecci, A., Civaschi, E., Savoia, A., Seri, M., Melazzini, F., Loffredo, G., Russo, G., Bozzi, V., Notarangelo, L. D., Gresele, P., Heller, P. G., Pujol-Moix, N., Kunishima, S., Cattaneo, M., Bussel, J., De Candia, E., Cagioni, C., Ramenghi, U. & 3 others, Barozzi, S., Fabris, F. & Balduini, C. L., Aug 7 2014, In : Blood. 124, 6

Research output: Contribution to journalArticle

Platelets
Blood Platelets
Idiopathic Thrombocytopenic Purpura
Blood
Differential Diagnosis
8 Citations (Scopus)

Polyubiquitinated proteins, proteasome, and glycogen characterize the particle-rich cytoplasmic structure (PaCS) of neoplastic and fetal cells

Necchi, V., Sommi, P., Vitali, A., Vanoli, A., Savoia, A., Ricci, V. & Solcia, E., 2014, In : Histochemistry and Cell Biology. 141, 5, p. 483-497 15 p.

Research output: Contribution to journalArticle

Cytoplasmic Structures
Proteasome Endopeptidase Complex
Glycogen
Ubiquitin
Proteins
68 Citations (Scopus)

Spectrum of the mutations in bernard-soulier syndrome

Savoia, A., Kunishima, S., De Rocco, D., Zieger, B., Rand, M. L., Pujol-Moix, N., Caliskan, U., Tokgoz, H., Pecci, A., Noris, P., Srivastava, A., Ward, C., Morel-Kopp, M. C., Alessi, M. C., Bellucci, S., Beurrier, P., de Maistre, E., Favier, R., Hézard, N., Hurtaud-Roux, M. F. & 16 others, Latger-Cannard, V., Lavenu-Bombled, C., Proulle, V., Meunier, S., Négrier, C., Nurden, A., Randrianaivo, H., Fabris, F., Platokouki, H., Rosenberg, N., Hadjkacem, B., Heller, P. G., Karimi, M., Balduini, C. L., Pastore, A. & Lanza, F., 2014, In : Human Mutation. 35, 9, p. 1033-1045 13 p.

Research output: Contribution to journalArticle

Bernard-Soulier Syndrome
Mutation
Blood Platelets
Ristocetin
Founder Effect
5 Citations (Scopus)

Unusual splice site mutations disrupt FANCA exon 8 definition

Mattioli, C., Pianigiani, G., De Rocco, D., Bianco, A. M. R., Cappelli, E., Savoia, A. & Pagani, F., 2014, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1842, 7, p. 1052-1058 7 p.

Research output: Contribution to journalArticle

Exons
Mutation
U1 Small Nuclear Ribonucleoproteins
Fanconi Anemia
Cytidine
2013
79 Citations (Scopus)

ANKRD26-related thrombocytopenia and myeloid malignancies.

Noris, P., Favier, R., Alessi, M. C., Geddis, A. E., Kunishima, S., Heller, P. G., Giordano, P., Niederhoffer, K. Y., Bussel, J. B., Podda, G. M., Vianelli, N., Kersseboom, R., Pecci, A., Gnan, C., Marconi, C., Auvrignon, A., Cohen, W., Yu, J. C., Iguchi, A., Miller Imahiyerobo, A. & 9 others, Boehlen, F., Ghalloussi, D., De Rocco, D., Magini, P., Civaschi, E., Biino, G., Seri, M., Savoia, A. & Balduini, C. L., Sep 12 2013, In : Blood. 122, 11, p. 1987-1989 3 p.

Research output: Contribution to journalArticle

6 Citations (Scopus)

Apparent genotype-phenotype mismatch in a patient with MYH9-related disease: When the exception proves the rule

Gresele, P., De Rocco, D., Bury, L., Fierro, T., Mezzasoma, A. M., Pecci, A. & Savoia, A., 2013, In : Thrombosis and Haemostasis. 110, 3, p. 618-620 3 p.

Research output: Contribution to journalArticle

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
53 Citations (Scopus)

Inherited thrombocytopenias frequently diagnosed in adults

Balduini, C. L., Savoia, A. & Seri, M., Jun 2013, In : Journal of Thrombosis and Haemostasis. 11, 6, p. 1006-1019 14 p.

Research output: Contribution to journalArticle

Thrombocytopenia
Diagnostic Errors
Platelet Count
Leukemia
Bernard-Soulier Syndrome
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