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Research Output 1996 2019

  • 1632 Citations
  • 22 h-Index
  • 95 Article
  • 3 Letter
  • 1 Chapter
  • 1 Comment/debate
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Article
2019
4 Citations (Scopus)

Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency

with the endorsement of EuroBloodNet, the European Reference Network in Rare Hematological Diseases, Bianchi, P., Fermo, E., Glader, B., Kanno, H., Agarwal, A., Barcellini, W., Eber, S., Hoyer, J. D., Kuter, D. J., Maia, T. M., Mañu-Pereira, M. D. M., Kalfa, T. A., Pissard, S., Segovia, J. C., van Beers, E., Gallagher, P. G., Rees, D. C. & van Wijk, R., 2019, In : American Journal of Hematology. 94, 1, p. 149-161

Research output: Contribution to journalArticle

Congenital Hemolytic Anemia
Workflow
Enzyme Assays
Glycolysis
Pyruvate Kinase Deficiency of Red Cells

A New Homozygous Mutation (c.393-394del TA/c.393-394del TA) in the NT5C3 Gene Associated with Pyrimidine-5′-Nucleotidase Deficiency: A Case Report

Köker, S. A., Oymak, Y., Bianchi, P., Fermo, E., Karapinar, T. H., Gözmen, S., Ay, Y. & Vergin, R. C., 2019, In : Journal of Pediatric Hematology/Oncology. 41, 8, p. e484-e486

Research output: Contribution to journalArticle

5'-Nucleotidase
Mutation
Genes
Spherocytes
Erythrocytes

A New Variant of PKLR Gene Associated With Mild Hemolysis may be Responsible for the Misdiagnosis in Pyruvate Kinase Deficiency

Aydin Köker, S., Oymak, Y., Bianchi, P., Gözmen, S., Karapinar, T. H., Fermo, E. & Vergin, R. C., 2019, In : Journal of Pediatric Hematology/Oncology. 41, 1, p. e1-e2

Research output: Contribution to journalArticle

Hemolysis
Diagnostic Errors
Hemolytic Anemia
Fathers
Genes
1 Citation (Scopus)

Clinical and molecular spectrum of glucose-6-phosphate isomerase deficiency. Report of 12 new cases

Fermo, E., Vercellati, C., Marcello, A. P., Zaninoni, A., Aytac, S., Cetin, M., Capolsini, I., Casale, M., Paci, S., Zanella, A., Barcellini, W. & Bianchi, P., Jan 1 2019, In : Frontiers in Physiology. 10, MAY, 467.

Research output: Contribution to journalArticle

Open Access
Glucose-6-Phosphate Isomerase
Mutation
Glycolysis
Anemia
Glucose-6-Phosphate

Glutaraldehyde - A subtle tool in the investigation of healthy and pathologic red blood cells

Abay, A., Simionato, G., Chachanidze, R., Bogdanova, A., Hertz, L., Bianchi, P., Van Den Akker, E., Von Lindern, M., Leonetti, M., Minetti, G., Wagner, C. & Kaestner, L., Jan 1 2019, In : Frontiers in Physiology. 10, MAY, 514.

Research output: Contribution to journalArticle

Open Access
Glutaral
Erythrocytes
Cell Shape
Scanning Probe Microscopy
Hemolytic Anemia

Integrating clinical, morphological, and molecular data to assess prognosis in patients with primary myelofibrosis at diagnosis: A practical approach

Iurlo, A., Elli, E. M., Palandri, F., Cattaneo, D., Bossi, A., Cortinovis, I., Bucelli, C., Orofino, N., Brioschi, F., Auteri, G., Bianchi, P., Fabris, S., Isimbaldi, G., Sabattini, E., Baldini, L. & Gianelli, U., Jan 1 2019, In : Hematological Oncology. 37, 4, p. 424-433

Research output: Contribution to journalArticle

Primary Myelofibrosis
Mutation
Practice Management
Multicenter Studies
Survival

Iron overload in congenital haemolytic anaemias: role of hepcidin and cytokines and predictive value of ferritin and transferrin saturation

Barcellini, W., Zaninoni, A., Gregorini, A. I., Soverini, G., Duca, L., Fattizzo, B., Giannotta, J. A., Pedrotti, P., Vercellati, C., Marcello, A. P., Fermo, E., Bianchi, P. & Cappellini, M. D., May 1 2019, In : British Journal of Haematology. 185, 3, p. 523-531 9 p.

Research output: Contribution to journalArticle

Congenital Hemolytic Anemia
Hepcidins
Iron Overload
Transferrin
Ferritins

Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo

Roland, B. P., Richards, K. R., Hrizo, S. L., Eicher, S., Barile, Z. J., Chang, T. C., Savon, G., Bianchi, P., Fermo, E., Ricerca, B. M., Tortorolo, L., Vockley, J., VanDemark, A. P. & Palladino, M. J., Jan 1 2019, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1865, 9, p. 2257-2266

Research output: Contribution to journalArticle

Triose-Phosphate Isomerase
Neurologic Manifestations
Catalytic Domain
Enzymes
Salts

Multisystem non-arthropathic reticulohistiocytosis: problems and pitfalls in the differential diagnosis of multisystem non-Langerhans-cell histiocytoses

Bonometti, A., Sacco, G., De Juli, E., Invernizzi, R., Venegoni, L., Bagnoli, F., Moltrasio, C., Passoni, E., Bellistri, F., Bianchi, P., Alaibac, M., Paulli, M. & Berti, E., 2019, In : Journal of the European Academy of Dermatology and Venereology. 33, 5, p. e195-e198

Research output: Contribution to journalArticle

1 Citation (Scopus)

Transduction with BBF2H7/CREB3L2 upregulates SEC23A protein in erythroblasts and partially corrects the hypo-glycosylation phenotype associated with CDAII

Pellegrin, S., Haydn-Smith, K. L., Hampton-O'Neil, L. A., Hawley, B. R., Heesom, K. J., Fermo, E., Bianchi, P. & Toye, A. M., 2019, In : British Journal of Haematology. 184, 5, p. 876-881

Research output: Contribution to journalArticle

2018

A Case with Pyruvate Kinase Deficiency Remarkably Sensitive to Heat

Aksu, T., Yarali, N., Fermo, E., Marcello, A., Hacisalihoǧlu, Ş., Bianchi, P. & Özbek, N. Y., Oct 1 2018, In : Journal of Pediatric Hematology/Oncology. 40, 7, p. e458-e460

Research output: Contribution to journalArticle

Pyruvate Kinase
Hot Temperature
Congenital Hemolytic Anemia
Babesia
Glucuronosyltransferase
17 Citations (Scopus)

Clinical spectrum of pyruvate kinase deficiency: Data from the pyruvate kinase deficiency natural history study

Grace, R. F., Bianchi, P., van Beers, E. J., Eber, S. W., Glader, B., Yaish, H. M., Despotovic, J. M., Rothman, J. A., Sharma, M., McNaull, M. M., Fermo, E., Lezon-Geyda, K., Morton, D. H., Neufeld, E. J., Chonat, S., Kollmar, N., Knoll, C. M., Kuo, K., Kwiatkowski, J. L., Pospíšilová, D. & 20 others, Pastore, Y. D., Thompson, A. A., Newburger, P. E., Ravindranath, Y., Wang, W. C., Wlodarski, M. W., Wang, H., Holzhauer, S., Breakey, V. R., Kunz, J., Sheth, S., Rose, M. J., Bradeen, H. A., Neu, N., Guo, D., Al-Sayegh, H., London, W. B., Gallagher, P. G., Zanella, A. & Barcellini, W., May 17 2018, In : Blood. 131, 20, p. 2183-2192 10 p.

Research output: Contribution to journalArticle

Pyruvate Kinase
Natural History
Splenectomy
Hemoglobins
Cholecystectomy
Congenital Dyserythropoietic Anemia
Congenital Hemolytic Anemia
Mutation
Genes
Anemia
1 Citation (Scopus)

JAK2-mutated Langerhans cell histiocytosis associated with primary myelofibrosis treated with ruxolitinib

Bonometti, A., Bagnoli, F., Fanoni, D., Venegoni, L., Corti, L., Bianchi, P., Elli, E. M., Isimbaldi, G., L'Imperio, V., Nazzaro, G., Passoni, E. & Berti, E., Mar 1 2018, In : Human Pathology. 73, p. 171-175 5 p.

Research output: Contribution to journalArticle

Janus Kinase 2
Langerhans Cell Histiocytosis
Primary Myelofibrosis
Mutation
Non-Langerhans-Cell Histiocytosis
7 Citations (Scopus)
Congenital Dyserythropoietic Anemia
Hemolytic Anemia
Hereditary Elliptocytosis
Hereditary Spherocytosis
Glucose-6-Phosphate Isomerase
2017
6 Citations (Scopus)

Early or late fresh frozen plasma administration in newborns and small infants undergoing cardiac surgery: the APPEAR randomized trial

Surgical and Clinical Outcome REsearch (SCORE) Group, May 1 2017, In : British Journal of Anaesthesia. 118, 5, p. 788-796 9 p.

Research output: Contribution to journalArticle

Thoracic Surgery
Newborn Infant
Cardiopulmonary Bypass
Postoperative Hemorrhage
Hemorrhage
25 Citations (Scopus)

'Gardos Channelopathy': A variant of hereditary Stomatocytosis with complex molecular regulation

Fermo, E., Bogdanova, A., Petkova-Kirova, P., Zaninoni, A., Marcello, A. P., Makhro, A., Hänggi, P., Hertz, L., Danielczok, J., Vercellati, C., Mirra, N., Zanella, A., Cortelezzi, A., Barcellini, W., Kaestner, L. & Bianchi, P., Dec 1 2017, In : Scientific Reports. 7, 1, 1744.

Research output: Contribution to journalArticle

Channelopathies
Mutation
Exome
Erythroblasts
Hemolytic Anemia
2016
10 Citations (Scopus)

Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations

Bianchi, P., Schwarz, K., Högel, J., Fermo, E., Vercellati, C., Grosse, R., van Wijk, R., van Zwieten, R., Barcellini, W., Zanella, A. & Heimpel, H., Nov 1 2016, In : British Journal of Haematology. 175, 4, p. 696-704 9 p.

Research output: Contribution to journalArticle

Congenital Dyserythropoietic Anemia
Genetic Association Studies
Cohort Studies
Mutation
Erythrocyte Anion Exchange Protein 1
Erdheim-Chester Disease
Polycythemia Vera
Histiocytes
Fibrosis
Non-Langerhans-Cell Histiocytosis
4 Citations (Scopus)

Erdheim-Chester Disease with Multiorgan Involvement, Following Polycythemia Vera

Iurlo, A., Dagna, L., Cattaneo, D., Orofino, N., Bianchi, P., Cavalli, G., Doglioni, C., Gianelli, U. & Cortelezzi, A., May 1 2016, In : Medicine (United States). 95, 20, e3697.

Research output: Contribution to journalArticle

Erdheim-Chester Disease
Polycythemia Vera
Histiocytes
Fibrosis
Non-Langerhans-Cell Histiocytosis
4 Citations (Scopus)

Proteomics reveals reduced expression of transketolase in pyrimidine 5′-nucleotidase deficient patients

Barasa, B. A., van Oirschot, B. A., Bianchi, P., van Solinge, W. W., Heck, A. J. R., van Wijk, R. & Slijper, M., 2016, In : Proteomics - Clinical Applications. 10, 8, p. 859-869 11 p.

Research output: Contribution to journalArticle

Transketolase
5'-Nucleotidase
Proteomics
Blood
Congenital Hemolytic Anemia
12 Citations (Scopus)

Severe Ankyrin-R deficiency results in impaired surface retention and lysosomal degradation of RhAG in human erythroblasts

Satchwell, T. J., Bell, A. J., Hawley, B. R., Pellegrin, S., Mordue, K. E., van Deursen, C. T. B. M., Heitink-ter Braak, N., Huls, G., Leers, M. P. G., Overwater, E., Tamminga, R. Y. J., van der Zwaag, B., Fermo, E., Bianchi, P., van Wijk, R. & Toye, A. M., 2016, In : Haematologica. 101, 9, p. 1018-1027 10 p.

Research output: Contribution to journalArticle

Ankyrins
Erythroblasts
Reticulocytes
Hereditary Spherocytosis
Erythrocyte Anion Exchange Protein 1

The european hematology association roadmap for european hematology research: A consensus document

Engert, A., Balduini, C., Brand, A., Coiffier, B., Cordonnier, C., Döhner, H., De Wit, T. D., Eichinger, S., Fibbe, W. E., Green, T., De Haas, F., Iolascon, A., Jaffredo, T., Rodeghiero, F., Sall Es, G., Schuringa, J. J., André, M. P. E., André-Schmutz, I., Bacigalupo, A., Bochud, P. Y. & 261 others, Den Boer, M. L., Bonini, C., Camaschella, C., Cant, A. J., Cappellini, M. D., Cazzola, M., Celso, C. L., Dimopoulos, M., Douay, L., Dzierzak, E., Einsele, H., Ferreri, A., De Franceschi, L., Gaulard, P., Gottgens, B., Greinacher, A., Gresele, P., Gribben, J. G., De Haan, G., Hansen, J. B., Hochhaus, A., Kadir, R. A., Kaveri, S., Kouskoff, V., Kühne, T., Kyrle, P. A., Ljungman, P., Maschmeyer, G., Méndez-Ferrer, S., Milsom, M., Mummery, C., Ossenkoppele, G. J., Pecci, A., Peyvandi, F., Philipsen, S., Reitsma, P. H., Ribera, J. M., Risitano, A., Rivella, S., Ruf, W., Schroeder, T., Scully, M. A., Sociè, G., Staal, F., Stanworth, S., Stauder, R., Stilgenbauer, S., Tamary, H., Theilgaard-Mönch, K., Thein, S. L., Tilly, H., Trneny, M., Vainchenker, W., Vannucchi, A. M., Viscoli, C., Vrielink, H., Zaaijer, H., Zanella, A., Zolla, L., Zwaginga, J. J., Martinez, P. A., Van Den Akker, E., Allard, S., Anagnou, N. P., Andolfo, I., Andrau, J. C., Angelucci, E., Anstee, D., Aurer, I., Avet-Loiseau, H., Aydinok, Y., Bakchoul, T., Balduini, A., Barcellini, W., Baruch, D., Baruchel, A., Bayry, J., Bento, C., van den Berg, A., Bernardi, R., Bianchi, P., Bigas, A., Biondi, A., Bohonek, M., Bonnet, D., Borchmann, P., Borregaard, N., Braekkan, S. K., van den Brink, M. R. M., Brodin, E., Bullinger, L., Buske, C., Butzeck, B., Cammenga, J., Campo, E., Carbone, A., Cervantes, F., Cesaro, S., Charbord, P., Claas, F. H. J., Cohen, H., Conard, J., Coppo, P., Vives Corron, J. L., Da Costa, L., Davi, F., Delwel, R., Dianzani, I., Domanović, D., Donnelly, P., Drnovšek, T. D., Dreyling, M. H., Du, M. Q., Dufour, C., Durand, C., Efremov, D. G., Eleftheriou, A., Elion, J., Emonts, M., Engelhardt, M., Ezine, S., Falkenburg, F., Favier, R., Federico, M., Fenaux, P., Fitzgibbon, J., Flygare, J., Foà, R., Forrester, L., Galacteros, F., Garagiola, I., Gardiner, C., Garraud, O., Van Geet, C., Geiger, H., Geissler, J., Germing, U., Ghevaert, C., Girelli, D., Godeau, B., Gökbuget, N., Goldschmidt, H., Goodeve, A., Graf, T., Graziadei, G., Griesshammer, M., Gruel, Y., Guilhot, F., Von Gunten, S., Gyssens, I. C., Halter, J. P., Harrison, C. N., Harteveld, C. L., Hellström-Lindberg, E., Hermine, O., Higgs, D., Hillmen, P., Hirsch, H. H., Hoskin, P., Huls, G., Inati, A., Johnson, P., Kattamis, A., Kiefel, V., Kleanthous, M., Klump, H., Krause, D., Hovinga, J. K., Lacaud, G., Lacroix-Desmazes, S., Landman-Parker, J., LeGouill, S., Lenz, G., Von Lilienfeld-Toal, M., von Lindern, M., López-Guillermo, A., Lopriore, E., Lozano, M., Macintyre, E., Makris, M., Mannhalter, C., Martens, J. H. A., Mathas, S., Matzdorff, A., Medvinsky, A., Menendez, P., Migliaccio, A. R., Miharada, K., Mikulska, M., Minard, V., Montalbán, C., De Montalembert, M., Montserrat, E., Morange, P. E., Mountford, J., Muckenthaler, M., Müller-Tidow, C., Mumford, A., Nadel, B., Navarro, J. T., El Nemer, W., Noizat-Pirenne, F., O’Mahony, B., Oldenburg, J., Olsson, M., Oostendorp, R., Palumbo, A., Passamonti, F., Patient, R., de Latour, R. P., Pflumio, F., Pierelli, L., Piga, A., Pollard, D., Raaijmakers, M., Radford, J., Rambach, R., Koneti Rao, A., Raslova, H., Rebulla, P., Rees, D. C., Ribrag, V., Rijneveld, A., Rinalducci, S., Robak, T., Roberts, I., Rodrigues, C., Rosendaal, F. R., Rosenwald, A., Rule, S., Russo, R., Saglio, G., Sanchez, M., Scharf, R. E., Schlenke, P., Semple, J., Sierra, J., So-Osman, C., Soria, J. M., Stamatopoulos, K., Stegmayr, B., Stunnenberg, H. G., Swinkels, D. W., Barata, J. P. T., Taghon, T., Taher, A. T., Terpos, E., Thachil, J., Tissot, J. D., Touw, I. P., Toye, A., Trappe, R., Traverse-Glehen, A., Unal, S., Vaulont, S., Viprakasit, V., Vitolo, U., Van Wijk, R., Wójtowicz, A., Zeerleder, S. & Zieger, B., Feb 1 2016, In : Haematologica. 101, 2, p. 115-208 94 p.

Research output: Contribution to journalArticle

Hematology
Consensus
Research
Therapeutics
Blood Coagulation Disorders

The european hematology association roadmap for european hematology research: A consensus document

Engert, A., Balduini, C., Brand, A., Coiffier, B., Cordonnier, C., Döhner, H., De Wit, T. D., Eichinger, S., Fibbe, W. E., Green, T., De Haas, F., Iolascon, A., Jaffredo, T., Rodeghiero, F., Sall Es, G., Schuringa, J. J., André, M. P. E., André-Schmutz, I., Bacigalupo, A., Bochud, P. Y. & 261 others, Den Boer, M. L., Bonini, C., Camaschella, C., Cant, A. J., Cappellini, M. D., Cazzola, M., Celso, C. L., Dimopoulos, M., Douay, L., Dzierzak, E., Einsele, H., Ferreri, A., De Franceschi, L., Gaulard, P., Gottgens, B., Greinacher, A., Gresele, P., Gribben, J. G., De Haan, G., Hansen, J. B., Hochhaus, A., Kadir, R. A., Kaveri, S., Kouskoff, V., Kühne, T., Kyrle, P. A., Ljungman, P., Maschmeyer, G., Méndez-Ferrer, S., Milsom, M., Mummery, C., Ossenkoppele, G. J., Pecci, A., Peyvandi, F., Philipsen, S., Reitsma, P. H., Ribera, J. M., Risitano, A., Rivella, S., Ruf, W., Schroeder, T., Scully, M. A., Sociè, G., Staal, F., Stanworth, S., Stauder, R., Stilgenbauer, S., Tamary, H., Theilgaard-Mönch, K., Thein, S. L., Tilly, H., Trneny, M., Vainchenker, W., Vannucchi, A. M., Viscoli, C., Vrielink, H., Zaaijer, H., Zanella, A., Zolla, L., Zwaginga, J. J., Martinez, P. A., Van Den Akker, E., Allard, S., Anagnou, N. P., Andolfo, I., Andrau, J. C., Angelucci, E., Anstee, D., Aurer, I., Avet-Loiseau, H., Aydinok, Y., Bakchoul, T., Balduini, A., Barcellini, W., Baruch, D., Baruchel, A., Bayry, J., Bento, C., van den Berg, A., Bernardi, R., Bianchi, P., Bigas, A., Biondi, A., Bohonek, M., Bonnet, D., Borchmann, P., Borregaard, N., Braekkan, S. K., van den Brink, M. R. M., Brodin, E., Bullinger, L., Buske, C., Butzeck, B., Cammenga, J., Campo, E., Carbone, A., Cervantes, F., Cesaro, S., Charbord, P., Claas, F. H. J., Cohen, H., Conard, J., Coppo, P., Vives Corron, J. L., Da Costa, L., Davi, F., Delwel, R., Dianzani, I., Domanović, D., Donnelly, P., Drnovšek, T. D., Dreyling, M. H., Du, M. Q., Dufour, C., Durand, C., Efremov, D. G., Eleftheriou, A., Elion, J., Emonts, M., Engelhardt, M., Ezine, S., Falkenburg, F., Favier, R., Federico, M., Fenaux, P., Fitzgibbon, J., Flygare, J., Foà, R., Forrester, L., Galacteros, F., Garagiola, I., Gardiner, C., Garraud, O., Van Geet, C., Geiger, H., Geissler, J., Germing, U., Ghevaert, C., Girelli, D., Godeau, B., Gökbuget, N., Goldschmidt, H., Goodeve, A., Graf, T., Graziadei, G., Griesshammer, M., Gruel, Y., Guilhot, F., Von Gunten, S., Gyssens, I. C., Halter, J. P., Harrison, C. N., Harteveld, C. L., Hellström-Lindberg, E., Hermine, O., Higgs, D., Hillmen, P., Hirsch, H. H., Hoskin, P., Huls, G., Inati, A., Johnson, P., Kattamis, A., Kiefel, V., Kleanthous, M., Klump, H., Krause, D., Hovinga, J. K., Lacaud, G., Lacroix-Desmazes, S., Landman-Parker, J., LeGouill, S., Lenz, G., Von Lilienfeld-Toal, M., von Lindern, M., López-Guillermo, A., Lopriore, E., Lozano, M., Macintyre, E., Makris, M., Mannhalter, C., Martens, J. H. A., Mathas, S., Matzdorff, A., Medvinsky, A., Menendez, P., Migliaccio, A. R., Miharada, K., Mikulska, M., Minard, V., Montalbán, C., De Montalembert, M., Montserrat, E., Morange, P. E., Mountford, J., Muckenthaler, M., Müller-Tidow, C., Mumford, A., Nadel, B., Navarro, J. T., El Nemer, W., Noizat-Pirenne, F., O’Mahony, B., Oldenburg, J., Olsson, M., Oostendorp, R., Palumbo, A., Passamonti, F., Patient, R., de Latour, R. P., Pflumio, F., Pierelli, L., Piga, A., Pollard, D., Raaijmakers, M., Radford, J., Rambach, R., Koneti Rao, A., Raslova, H., Rebulla, P., Rees, D. C., Ribrag, V., Rijneveld, A., Rinalducci, S., Robak, T., Roberts, I., Rodrigues, C., Rosendaal, F. R., Rosenwald, A., Rule, S., Russo, R., Saglio, G., Sanchez, M., Scharf, R. E., Schlenke, P., Semple, J., Sierra, J., So-Osman, C., Soria, J. M., Stamatopoulos, K., Stegmayr, B., Stunnenberg, H. G., Swinkels, D. W., Barata, J. P. T., Taghon, T., Taher, A. T., Terpos, E., Thachil, J., Tissot, J. D., Touw, I. P., Toye, A., Trappe, R., Traverse-Glehen, A., Unal, S., Vaulont, S., Viprakasit, V., Vitolo, U., Van Wijk, R., Wójtowicz, A., Zeerleder, S. & Zieger, B., Feb 1 2016, In : Haematologica. 101, 2, p. 115-208 94 p.

Research output: Contribution to journalArticle

Hematology
Consensus
Research
Therapeutics
Blood Coagulation Disorders

The european hematology association roadmap for european hematology research: A consensus document

Engert, A., Balduini, C., Brand, A., Coiffier, B., Cordonnier, C., Döhner, H., De Wit, T. D., Eichinger, S., Fibbe, W. E., Green, T., De Haas, F., Iolascon, A., Jaffredo, T., Rodeghiero, F., Sall Es, G., Schuringa, J. J., André, M. P. E., André-Schmutz, I., Bacigalupo, A., Bochud, P. Y. & 261 others, Den Boer, M. L., Bonini, C., Camaschella, C., Cant, A. J., Cappellini, M. D., Cazzola, M., Celso, C. L., Dimopoulos, M., Douay, L., Dzierzak, E., Einsele, H., Ferreri, A., De Franceschi, L., Gaulard, P., Gottgens, B., Greinacher, A., Gresele, P., Gribben, J. G., De Haan, G., Hansen, J. B., Hochhaus, A., Kadir, R. A., Kaveri, S., Kouskoff, V., Kühne, T., Kyrle, P. A., Ljungman, P., Maschmeyer, G., Méndez-Ferrer, S., Milsom, M., Mummery, C., Ossenkoppele, G. J., Pecci, A., Peyvandi, F., Philipsen, S., Reitsma, P. H., Ribera, J. M., Risitano, A., Rivella, S., Ruf, W., Schroeder, T., Scully, M. A., Sociè, G., Staal, F., Stanworth, S., Stauder, R., Stilgenbauer, S., Tamary, H., Theilgaard-Mönch, K., Thein, S. L., Tilly, H., Trneny, M., Vainchenker, W., Vannucchi, A. M., Viscoli, C., Vrielink, H., Zaaijer, H., Zanella, A., Zolla, L., Zwaginga, J. J., Martinez, P. A., Van Den Akker, E., Allard, S., Anagnou, N. P., Andolfo, I., Andrau, J. C., Angelucci, E., Anstee, D., Aurer, I., Avet-Loiseau, H., Aydinok, Y., Bakchoul, T., Balduini, A., Barcellini, W., Baruch, D., Baruchel, A., Bayry, J., Bento, C., van den Berg, A., Bernardi, R., Bianchi, P., Bigas, A., Biondi, A., Bohonek, M., Bonnet, D., Borchmann, P., Borregaard, N., Braekkan, S. K., van den Brink, M. R. M., Brodin, E., Bullinger, L., Buske, C., Butzeck, B., Cammenga, J., Campo, E., Carbone, A., Cervantes, F., Cesaro, S., Charbord, P., Claas, F. H. J., Cohen, H., Conard, J., Coppo, P., Vives Corron, J. L., Da Costa, L., Davi, F., Delwel, R., Dianzani, I., Domanović, D., Donnelly, P., Drnovšek, T. D., Dreyling, M. H., Du, M. Q., Dufour, C., Durand, C., Efremov, D. G., Eleftheriou, A., Elion, J., Emonts, M., Engelhardt, M., Ezine, S., Falkenburg, F., Favier, R., Federico, M., Fenaux, P., Fitzgibbon, J., Flygare, J., Foà, R., Forrester, L., Galacteros, F., Garagiola, I., Gardiner, C., Garraud, O., Van Geet, C., Geiger, H., Geissler, J., Germing, U., Ghevaert, C., Girelli, D., Godeau, B., Gökbuget, N., Goldschmidt, H., Goodeve, A., Graf, T., Graziadei, G., Griesshammer, M., Gruel, Y., Guilhot, F., Von Gunten, S., Gyssens, I. C., Halter, J. P., Harrison, C. N., Harteveld, C. L., Hellström-Lindberg, E., Hermine, O., Higgs, D., Hillmen, P., Hirsch, H. H., Hoskin, P., Huls, G., Inati, A., Johnson, P., Kattamis, A., Kiefel, V., Kleanthous, M., Klump, H., Krause, D., Hovinga, J. K., Lacaud, G., Lacroix-Desmazes, S., Landman-Parker, J., LeGouill, S., Lenz, G., Von Lilienfeld-Toal, M., von Lindern, M., López-Guillermo, A., Lopriore, E., Lozano, M., Macintyre, E., Makris, M., Mannhalter, C., Martens, J. H. A., Mathas, S., Matzdorff, A., Medvinsky, A., Menendez, P., Migliaccio, A. R., Miharada, K., Mikulska, M., Minard, V., Montalbán, C., De Montalembert, M., Montserrat, E., Morange, P. E., Mountford, J., Muckenthaler, M., Müller-Tidow, C., Mumford, A., Nadel, B., Navarro, J. T., El Nemer, W., Noizat-Pirenne, F., O’Mahony, B., Oldenburg, J., Olsson, M., Oostendorp, R., Palumbo, A., Passamonti, F., Patient, R., de Latour, R. P., Pflumio, F., Pierelli, L., Piga, A., Pollard, D., Raaijmakers, M., Radford, J., Rambach, R., Koneti Rao, A., Raslova, H., Rebulla, P., Rees, D. C., Ribrag, V., Rijneveld, A., Rinalducci, S., Robak, T., Roberts, I., Rodrigues, C., Rosendaal, F. R., Rosenwald, A., Rule, S., Russo, R., Saglio, G., Sanchez, M., Scharf, R. E., Schlenke, P., Semple, J., Sierra, J., So-Osman, C., Soria, J. M., Stamatopoulos, K., Stegmayr, B., Stunnenberg, H. G., Swinkels, D. W., Barata, J. P. T., Taghon, T., Taher, A. T., Terpos, E., Thachil, J., Tissot, J. D., Touw, I. P., Toye, A., Trappe, R., Traverse-Glehen, A., Unal, S., Vaulont, S., Viprakasit, V., Vitolo, U., Van Wijk, R., Wójtowicz, A., Zeerleder, S. & Zieger, B., Feb 1 2016, In : Haematologica. 101, 2, p. 115-208 94 p.

Research output: Contribution to journalArticle

Hematology
Consensus
Research
Therapeutics
Blood Coagulation Disorders

The european hematology association roadmap for european hematology research: A consensus document

Engert, A., Balduini, C., Brand, A., Coiffier, B., Cordonnier, C., Döhner, H., De Wit, T. D., Eichinger, S., Fibbe, W. E., Green, T., De Haas, F., Iolascon, A., Jaffredo, T., Rodeghiero, F., Sall Es, G., Schuringa, J. J., André, M. P. E., André-Schmutz, I., Bacigalupo, A., Bochud, P. Y. & 261 others, Den Boer, M. L., Bonini, C., Camaschella, C., Cant, A. J., Cappellini, M. D., Cazzola, M., Celso, C. L., Dimopoulos, M., Douay, L., Dzierzak, E., Einsele, H., Ferreri, A., De Franceschi, L., Gaulard, P., Gottgens, B., Greinacher, A., Gresele, P., Gribben, J. G., De Haan, G., Hansen, J. B., Hochhaus, A., Kadir, R. A., Kaveri, S., Kouskoff, V., Kühne, T., Kyrle, P. A., Ljungman, P., Maschmeyer, G., Méndez-Ferrer, S., Milsom, M., Mummery, C., Ossenkoppele, G. J., Pecci, A., Peyvandi, F., Philipsen, S., Reitsma, P. H., Ribera, J. M., Risitano, A., Rivella, S., Ruf, W., Schroeder, T., Scully, M. A., Sociè, G., Staal, F., Stanworth, S., Stauder, R., Stilgenbauer, S., Tamary, H., Theilgaard-Mönch, K., Thein, S. L., Tilly, H., Trneny, M., Vainchenker, W., Vannucchi, A. M., Viscoli, C., Vrielink, H., Zaaijer, H., Zanella, A., Zolla, L., Zwaginga, J. J., Martinez, P. A., Van Den Akker, E., Allard, S., Anagnou, N. P., Andolfo, I., Andrau, J. C., Angelucci, E., Anstee, D., Aurer, I., Avet-Loiseau, H., Aydinok, Y., Bakchoul, T., Balduini, A., Barcellini, W., Baruch, D., Baruchel, A., Bayry, J., Bento, C., van den Berg, A., Bernardi, R., Bianchi, P., Bigas, A., Biondi, A., Bohonek, M., Bonnet, D., Borchmann, P., Borregaard, N., Braekkan, S. K., van den Brink, M. R. M., Brodin, E., Bullinger, L., Buske, C., Butzeck, B., Cammenga, J., Campo, E., Carbone, A., Cervantes, F., Cesaro, S., Charbord, P., Claas, F. H. J., Cohen, H., Conard, J., Coppo, P., Vives Corron, J. L., Da Costa, L., Davi, F., Delwel, R., Dianzani, I., Domanović, D., Donnelly, P., Drnovšek, T. D., Dreyling, M. H., Du, M. Q., Dufour, C., Durand, C., Efremov, D. G., Eleftheriou, A., Elion, J., Emonts, M., Engelhardt, M., Ezine, S., Falkenburg, F., Favier, R., Federico, M., Fenaux, P., Fitzgibbon, J., Flygare, J., Foà, R., Forrester, L., Galacteros, F., Garagiola, I., Gardiner, C., Garraud, O., Van Geet, C., Geiger, H., Geissler, J., Germing, U., Ghevaert, C., Girelli, D., Godeau, B., Gökbuget, N., Goldschmidt, H., Goodeve, A., Graf, T., Graziadei, G., Griesshammer, M., Gruel, Y., Guilhot, F., Von Gunten, S., Gyssens, I. C., Halter, J. P., Harrison, C. N., Harteveld, C. L., Hellström-Lindberg, E., Hermine, O., Higgs, D., Hillmen, P., Hirsch, H. H., Hoskin, P., Huls, G., Inati, A., Johnson, P., Kattamis, A., Kiefel, V., Kleanthous, M., Klump, H., Krause, D., Hovinga, J. K., Lacaud, G., Lacroix-Desmazes, S., Landman-Parker, J., LeGouill, S., Lenz, G., Von Lilienfeld-Toal, M., von Lindern, M., López-Guillermo, A., Lopriore, E., Lozano, M., Macintyre, E., Makris, M., Mannhalter, C., Martens, J. H. A., Mathas, S., Matzdorff, A., Medvinsky, A., Menendez, P., Migliaccio, A. R., Miharada, K., Mikulska, M., Minard, V., Montalbán, C., De Montalembert, M., Montserrat, E., Morange, P. E., Mountford, J., Muckenthaler, M., Müller-Tidow, C., Mumford, A., Nadel, B., Navarro, J. T., El Nemer, W., Noizat-Pirenne, F., O’Mahony, B., Oldenburg, J., Olsson, M., Oostendorp, R., Palumbo, A., Passamonti, F., Patient, R., de Latour, R. P., Pflumio, F., Pierelli, L., Piga, A., Pollard, D., Raaijmakers, M., Radford, J., Rambach, R., Koneti Rao, A., Raslova, H., Rebulla, P., Rees, D. C., Ribrag, V., Rijneveld, A., Rinalducci, S., Robak, T., Roberts, I., Rodrigues, C., Rosendaal, F. R., Rosenwald, A., Rule, S., Russo, R., Saglio, G., Sanchez, M., Scharf, R. E., Schlenke, P., Semple, J., Sierra, J., So-Osman, C., Soria, J. M., Stamatopoulos, K., Stegmayr, B., Stunnenberg, H. G., Swinkels, D. W., Barata, J. P. T., Taghon, T., Taher, A. T., Terpos, E., Thachil, J., Tissot, J. D., Touw, I. P., Toye, A., Trappe, R., Traverse-Glehen, A., Unal, S., Vaulont, S., Viprakasit, V., Vitolo, U., Van Wijk, R., Wójtowicz, A., Zeerleder, S. & Zieger, B., Feb 1 2016, In : Haematologica. 101, 2, p. 115-208 94 p.

Research output: Contribution to journalArticle

Hematology
Consensus
Research
Therapeutics
Blood Coagulation Disorders

The european hematology association roadmap for european hematology research: A consensus document

Engert, A., Balduini, C., Brand, A., Coiffier, B., Cordonnier, C., Döhner, H., De Wit, T. D., Eichinger, S., Fibbe, W. E., Green, T., De Haas, F., Iolascon, A., Jaffredo, T., Rodeghiero, F., Sall Es, G., Schuringa, J. J., André, M. P. E., André-Schmutz, I., Bacigalupo, A., Bochud, P. Y. & 261 others, Den Boer, M. L., Bonini, C., Camaschella, C., Cant, A. J., Cappellini, M. D., Cazzola, M., Celso, C. L., Dimopoulos, M., Douay, L., Dzierzak, E., Einsele, H., Ferreri, A., De Franceschi, L., Gaulard, P., Gottgens, B., Greinacher, A., Gresele, P., Gribben, J. G., De Haan, G., Hansen, J. B., Hochhaus, A., Kadir, R. A., Kaveri, S., Kouskoff, V., Kühne, T., Kyrle, P. A., Ljungman, P., Maschmeyer, G., Méndez-Ferrer, S., Milsom, M., Mummery, C., Ossenkoppele, G. J., Pecci, A., Peyvandi, F., Philipsen, S., Reitsma, P. H., Ribera, J. M., Risitano, A., Rivella, S., Ruf, W., Schroeder, T., Scully, M. A., Sociè, G., Staal, F., Stanworth, S., Stauder, R., Stilgenbauer, S., Tamary, H., Theilgaard-Mönch, K., Thein, S. L., Tilly, H., Trneny, M., Vainchenker, W., Vannucchi, A. M., Viscoli, C., Vrielink, H., Zaaijer, H., Zanella, A., Zolla, L., Zwaginga, J. J., Martinez, P. A., Van Den Akker, E., Allard, S., Anagnou, N. P., Andolfo, I., Andrau, J. C., Angelucci, E., Anstee, D., Aurer, I., Avet-Loiseau, H., Aydinok, Y., Bakchoul, T., Balduini, A., Barcellini, W., Baruch, D., Baruchel, A., Bayry, J., Bento, C., van den Berg, A., Bernardi, R., Bianchi, P., Bigas, A., Biondi, A., Bohonek, M., Bonnet, D., Borchmann, P., Borregaard, N., Braekkan, S. K., van den Brink, M. R. M., Brodin, E., Bullinger, L., Buske, C., Butzeck, B., Cammenga, J., Campo, E., Carbone, A., Cervantes, F., Cesaro, S., Charbord, P., Claas, F. H. J., Cohen, H., Conard, J., Coppo, P., Vives Corron, J. L., Da Costa, L., Davi, F., Delwel, R., Dianzani, I., Domanović, D., Donnelly, P., Drnovšek, T. D., Dreyling, M. H., Du, M. Q., Dufour, C., Durand, C., Efremov, D. G., Eleftheriou, A., Elion, J., Emonts, M., Engelhardt, M., Ezine, S., Falkenburg, F., Favier, R., Federico, M., Fenaux, P., Fitzgibbon, J., Flygare, J., Foà, R., Forrester, L., Galacteros, F., Garagiola, I., Gardiner, C., Garraud, O., Van Geet, C., Geiger, H., Geissler, J., Germing, U., Ghevaert, C., Girelli, D., Godeau, B., Gökbuget, N., Goldschmidt, H., Goodeve, A., Graf, T., Graziadei, G., Griesshammer, M., Gruel, Y., Guilhot, F., Von Gunten, S., Gyssens, I. C., Halter, J. P., Harrison, C. N., Harteveld, C. L., Hellström-Lindberg, E., Hermine, O., Higgs, D., Hillmen, P., Hirsch, H. H., Hoskin, P., Huls, G., Inati, A., Johnson, P., Kattamis, A., Kiefel, V., Kleanthous, M., Klump, H., Krause, D., Hovinga, J. K., Lacaud, G., Lacroix-Desmazes, S., Landman-Parker, J., LeGouill, S., Lenz, G., Von Lilienfeld-Toal, M., von Lindern, M., López-Guillermo, A., Lopriore, E., Lozano, M., Macintyre, E., Makris, M., Mannhalter, C., Martens, J. H. A., Mathas, S., Matzdorff, A., Medvinsky, A., Menendez, P., Migliaccio, A. R., Miharada, K., Mikulska, M., Minard, V., Montalbán, C., De Montalembert, M., Montserrat, E., Morange, P. E., Mountford, J., Muckenthaler, M., Müller-Tidow, C., Mumford, A., Nadel, B., Navarro, J. T., El Nemer, W., Noizat-Pirenne, F., O’Mahony, B., Oldenburg, J., Olsson, M., Oostendorp, R., Palumbo, A., Passamonti, F., Patient, R., de Latour, R. P., Pflumio, F., Pierelli, L., Piga, A., Pollard, D., Raaijmakers, M., Radford, J., Rambach, R., Koneti Rao, A., Raslova, H., Rebulla, P., Rees, D. C., Ribrag, V., Rijneveld, A., Rinalducci, S., Robak, T., Roberts, I., Rodrigues, C., Rosendaal, F. R., Rosenwald, A., Rule, S., Russo, R., Saglio, G., Sanchez, M., Scharf, R. E., Schlenke, P., Semple, J., Sierra, J., So-Osman, C., Soria, J. M., Stamatopoulos, K., Stegmayr, B., Stunnenberg, H. G., Swinkels, D. W., Barata, J. P. T., Taghon, T., Taher, A. T., Terpos, E., Thachil, J., Tissot, J. D., Touw, I. P., Toye, A., Trappe, R., Traverse-Glehen, A., Unal, S., Vaulont, S., Viprakasit, V., Vitolo, U., Van Wijk, R., Wójtowicz, A., Zeerleder, S. & Zieger, B., Feb 1 2016, In : Haematologica. 101, 2, p. 115-208 94 p.

Research output: Contribution to journalArticle

Hematology
Consensus
Research
Therapeutics
Blood Coagulation Disorders
27 Citations (Scopus)

The european hematology association roadmap for european hematology research: A consensus document

Engert, A., Balduini, C., Brand, A., Coiffier, B., Cordonnier, C., Döhner, H., De Wit, T. D., Eichinger, S., Fibbe, W., Green, T., De Haas, F., Iolascon, A., Jaffredo, T., Rodeghiero, F., Sall Es, G., Schuringa, J. J., André, M., Andre-Schmutz, I., Bacigalupo, A., Bochud, P. Y. & 261 others, Den Boer, M., Bonini, C., Camaschella, C., Cant, A., Cappellini, M. D., Cazzola, M., Celso, C. L., Dimopoulos, M., Douay, L., Dzierzak, E., Einsele, H., Ferreri, A., De Franceschi, L., Gaulard, P., Gottgens, B., Greinacher, A., Gresele, P., Gribben, J., De Haan, G., Hansen, J. B., Hochhaus, A., Kadir, R., Kaveri, S., Kouskoff, V., Kühne, T., Kyrle, P., Ljungman, P., Maschmeyer, G., Méndez-Ferrer, S., Milsom, M., Mummery, C., Ossenkoppele, G., Pecci, A., Peyvandi, F., Philipsen, S., Reitsma, P., Ribera, J. M., Risitano, A., Rivella, S., Ruf, W., Schroeder, T., Scully, M., Socie, G., Staal, F., Stanworth, S., Stauder, R., Stilgenbauer, S., Tamary, H., Theilgaard-Mönch, K., Thein, S. L., Tilly, H., Trneny, M., Vainchenker, W., Vannucchi, A. M., Viscoli, C., Vrielink, H., Zaaijer, H., Zanella, A., Zolla, L., Zwaginga, J. J., Martinez, P. A., Van Den Akker, E., Allard, S., Anagnou, N., Andolfo, I., Andrau, J. C., Angelucci, E., Anstee, D., Aurer, I., Avet-Loiseau, H., Aydinok, Y., Bakchoul, T., Balduini, A., Barcellini, W., Baruch, D., Baruchel, A., Bayry, J., Bento, C., Van Den Berg, A., Bernardi, R., Bianchi, P., Bigas, A., Biondi, A., Bohonek, M., Bonnet, D., Borchmann, P., Borregaard, N., Brækkan, S., Van Den Brink, M., Brodin, E., Bullinger, L., Buske, C., Butzeck, B., Cammenga, J., Campo, E., Carbone, A., Cervantes, F., Cesaro, S., Charbord, P., Claas, F., Cohen, H., Conard, J., Coppo, P., Vives Corron, J. L., Da Costa, L., Davi, F., Delwel, R., Dianzani, I., Domanović, D., Donnelly, P., Drnovšek, T. D., Dreyling, M., Du, M. Q., Dufour, C., Durand, C., Efremov, D., Eleftheriou, A., Elion, J., Emonts, M., Engelhardt, M., Ezine, S., Falkenburg, F., Favier, R., Federico, M., Fenaux, P., Fitzgibbon, J., Flygare, J., Foà, R., Forrester, L., Galacteros, F., Garagiola, I., Gardiner, C., Garraud, O., Van Geet, C., Geiger, H., Geissler, J., Germing, U., Ghevaert, C., Girelli, D., Godeau, B., Gökbuget, N., Goldschmidt, H., Goodeve, A., Graf, T., Graziadei, G., Griesshammer, M., Gruel, Y., Guilhot, F., Von Gunten, S., Gyssens, I., Halter, J., Harrison, C., Harteveld, C., Hellström-Lindberg, E., Hermine, O., Higgs, D., Hillmen, P., Hirsch, H., Hoskin, P., Huls, G., Inati, A., Johnson, P., Kattamis, A., Kiefel, V., Kleanthous, M., Klump, H., Krause, D., Hovinga, J. K., Lacaud, G., Lacroix-Desmazes, S., Landman-Parker, J., Legouill, S., Lenz, G., Von Lilienfeld-Toal, M., Von Lindern, M., Lopez-Guillermo, A., Lopriore, E., Lozano, M., Macintyre, E., Makris, M., Mannhalter, C., Martens, J., Mathas, S., Matzdorff, A., Medvinsky, A., Menendez, P., Migliaccio, A. R., Miharada, K., Mikulska, M., Minard, V., Montalbán, C., De Montalembert, M., Montserrat, E., Morange, P. E., Mountford, J., Muckenthaler, M., Müller-Tidow, C., Mumford, A., Nadel, B., Navarro, J. T., El Nemer, W., Noizat-Pirenne, F., O’Mahony, B., Oldenburg, J., Olsson, M., Oostendorp, R., Palumbo, A., Passamonti, F., Patient, R., De Latour, R. P., Pflumio, F., Pierelli, L., Piga, A., Pollard, D., Raaijmakers, M., Radford, J., Rambach, R., Koneti Rao, A., Raslova, H., Rebulla, P., Rees, D., Ribrag, V., Rijneveld, A., Rinalducci, S., Robak, T., Roberts, I., Rodrigues, C., Rosendaal, F., Rosenwald, A., Rule, S., Russo, R., Saglio, G., Sanchez, M., Scharf, R. E., Schlenke, P., Semple, J., Sierra, J., So-Osman, C., Soria, J. M., Stamatopoulos, K., Stegmayr, B., Stunnenberg, H., Swinkels, D., Barata, J. P. T., Taghon, T., Taher, A., Terpos, E., Thachil, J., Tissot, J. D., Touw, I., Toye, A., Trappe, R., Traverse-Glehen, A., Unal, S., Vaulont, S., Viprakasit, V., Vitolo, U., Van Wijk, R., Wójtowicz, A., Zeerleder, S. & Zieger, B., Feb 1 2016, In : Haematologica. 101, 2, p. 115-208 94 p.

Research output: Contribution to journalArticle

Hematology
Consensus
Research
Therapeutics
Blood Coagulation Disorders
2015
4 Citations (Scopus)

Detection of red blood cell antibodies in mitogen-stimulated cultures from patients with hereditary spherocytosis

Zaninoni, A., Vercellati, C., Imperiali, F. G., Marcello, A. P., Fattizzo, B., Fermo, E., Bianchi, P., Grossi, C., Cattaneo, A., Cortelezzi, A., Zanella, A. & Barcellini, W., Dec 1 2015, In : Transfusion. 55, 12, p. 2930-2938 9 p.

Research output: Contribution to journalArticle

Hereditary Spherocytosis
Mitogens
Erythrocytes
Antibodies
Coombs Test
6 Citations (Scopus)

Discrepancies between bone marrow histopathology and clinical phenotype in BCR-ABL1-negative myeloproliferative neoplasms associated with splanchnic vein thrombosis

Gianelli, U., Iurlo, A., Cattaneo, D., Bossi, A., Cortinovis, I., Augello, C., Moro, A., Savi, F., Castelli, R., Brambilla, C., Bianchi, P., Primignani, M., Cortelezzi, A. & Bosari, S., May 1 2015, In : Leukemia Research. 39, 5, p. 525-529 5 p.

Research output: Contribution to journalArticle

Viscera
Essential Thrombocythemia
Veins
Thrombosis
Bone Marrow
60 Citations (Scopus)

ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders

King, M. J., Garçon, L., Hoyer, J. D., Iolascon, A., Picard, V., Stewart, G., Bianchi, P., Lee, S. H. & Zanella, A., Jun 1 2015, In : International Journal of Laboratory Hematology. 37, 3, p. 304-325 22 p.

Research output: Contribution to journalArticle

Hereditary Spherocytosis
Clinical Laboratory Techniques
Cell membranes
Hereditary Elliptocytosis
Cells
6 Citations (Scopus)

Transient elastography spleen stiffness measurements in primary myelofibrosis patients: A pilot study in a single centre

Iurlo, A., Cattaneo, D., Giunta, M., Gianelli, U., Consonni, D., Fraquelli, M., Orofino, N., Bucelli, C., Bianchi, P., Augello, C., Bosari, S., Colombo, M. & Cortelezzi, A., Sep 1 2015, In : British Journal of Haematology. 170, 6, p. 890-892 3 p.

Research output: Contribution to journalArticle

2014
2 Citations (Scopus)

Chromosome 7q31.1 deletion in myeloid neoplasms

Tripputi, P., Bianchi, P., Fermo, E., Bignotto, M. & Zanella, A., Feb 2014, In : Human Pathology. 45, 2, p. 368-371 4 p.

Research output: Contribution to journalArticle

Chromosome Deletion
Chromosomes, Human, Pair 7
Neoplasms
Microsatellite Repeats
Monosomy
2013
7 Citations (Scopus)
Hereditary Spherocytosis
Pyruvate Kinase
Hemolytic Anemia
Diagnostic Errors
Congenital Hemolytic Anemia
22 Citations (Scopus)

Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis

Satchwell, T. J., Pellegrin, S., Bianchi, P., Hawley, B. R., Gampel, A., Mordue, K. E., Budnik, A., Fermo, E., Barcellini, W., Stephens, D. J., van den Akker, E. & Toye, A. M., Nov 1 2013, In : Haematologica. 98, 11, p. 1788-1796 9 p.

Research output: Contribution to journalArticle

Congenital Dyserythropoietic Anemia
Erythroblasts
Erythropoiesis
Reticulocytes
Phenotype
18 Citations (Scopus)
Primary Myelofibrosis
Cytokines
Coombs Test
Interleukin-8
Mitogens
2012
19 Citations (Scopus)

A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: Molecular and functional characterization

Fermo, E., Bianchi, P., Chiarelli, L. R., Maggi, M., Mandarà, G. M. L., Vercellati, C., Marcello, A. P., Barcellini, W., Cortelezzi, A., Valentini, G. & Zanella, A., Aug 2012, In : Molecular Genetics and Metabolism. 106, 4, p. 455-461 7 p.

Research output: Contribution to journalArticle

Phosphoglycerate Kinase
Tissue
Hemolytic Anemia
Enzymes
Muscular Diseases
4 Citations (Scopus)

Defective erythroid maturation in gelsolin mutant mice

Cantù, C., Bosè, F., Bianchi, P., Reali, E., Colzani, M. T., Cantù, I., Barbarani, G., Ottolenghi, S., Witke, W., Spinardi, L. & Ronchi, A. E., Jul 1 2012, In : Haematologica. 97, 7, p. 980-988 9 p.

Research output: Contribution to journalArticle

Gelsolin
Erythropoiesis
jasplakinolide
Actins
Actin Capping Proteins
86 Citations (Scopus)
Hereditary Spherocytosis
Glycerol
Osmotic Fragility
Phenotype
Clinical Laboratory Techniques
36 Citations (Scopus)

Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency

Chiarelli, L. R., Morera, S. M., Bianchi, P., Fermo, E., Zanella, A., Galizzi, A. & Valentini, G., Feb 14 2012, In : PLoS One. 7, 2, e32065.

Research output: Contribution to journalArticle

phosphoglycerate kinase
Phosphoglycerate Kinase
mutation
Mutation
signs and symptoms (animals and humans)
4 Citations (Scopus)

Reply to "Flow cytometry test for hereditary spherocytosis"

Bianchi, P., Fermo, E. & Zanella, A., Dec 1 2012, In : Haematologica. 97, 12

Research output: Contribution to journalArticle

2 Citations (Scopus)

Reply to "testing for hereditary spherocytosis: A french experience"

Bianchi, P., Fermo, E. & Zanella, A., Dec 1 2012, In : Haematologica. 97, 12

Research output: Contribution to journalArticle

2011
4 Citations (Scopus)

Cerebellar atrophy in a child with hereditary methemoglobinemia type II

Fusco, C., Soncini, G., Frattini, D., Giustina, E. D., Vercellati, C., Fermo, E. & Bianchi, P., Apr 2011, In : Brain and Development. 33, 4, p. 357-360 4 p.

Research output: Contribution to journalArticle

Methemoglobinemia
Atrophy
Cyanosis
Movement Disorders
Brain Diseases
38 Citations (Scopus)

Hereditary red cell membrane defects: Diagnostic and clinical aspects

Barcellini, W., Bianchi, P., Fermo, E., Imperiali, F. G., Marcello, A. P., Vercellati, C., Zaninoni, A. & Zanella, A., 2011, In : Blood Transfusion. 9, 3, p. 274-277 4 p.

Research output: Contribution to journalArticle

17 Citations (Scopus)

Six children with pyruvate kinase deficiency from one small town: Molecular characterization of the PK-LR gene

Christensen, R. D., Yaish, H. M., Johnson, C. B., Bianchi, P. & Zanella, A., Oct 2011, In : Journal of Pediatrics. 159, 4, p. 695-697 3 p.

Research output: Contribution to journalArticle

arginyl-glutamine
Mutation
Pyruvate Kinase
Genes
Liver
2010
16 Citations (Scopus)

CDAII presenting as hydrops foetalis: Molecular characterization of two cases

Fermo, E., Bianchi, P., Notarangelo, L. D., Binda, S., Vercellati, C., Marcello, A. P., Boschetti, C., Barcellini, W. & Zanella, A., Jun 2010, In : Blood cells, molecules & diseases. 45, 1, p. 20-22 3 p.

Research output: Contribution to journalArticle

Edema
Congenital Dyserythropoietic Anemia
Mutation
Genes
7 Citations (Scopus)

Triose phosphate isomerase deficiency associated with two novel mutations in TPI gene

Fermo, E., Bianchi, P., Vercellati, C., Rees, D. C., Marcello, A. P., Barcellini, W. & Zanella, A., Aug 2010, In : European Journal of Haematology. 85, 2, p. 170-173 4 p.

Research output: Contribution to journalArticle

Triose-Phosphate Isomerase
Mutation
Hemolytic Anemia
Genes
2009
113 Citations (Scopus)

Congenital Dyserythropoietic Anemia type II (CDAII) is caused by mutations in the SEC23B gene

Bianchi, P., Fermo, E., Vercellati, C., Boschetti, C., Barcellini, W., Iurlo, A., Marcello, A. P., Righetti, P. G. & Zanella, A., Sep 2009, In : Human Mutation. 30, 9, p. 1292-1298 7 p.

Research output: Contribution to journalArticle

Congenital Dyserythropoietic Anemia
Mutation
Erythroblasts
Genes
Chromosomes, Human, Pair 20
40 Citations (Scopus)

Regulation of iron metabolism through GDF15 and hepcidin in pyruvate kinase deficiency

Finkenstedt, A., Bianchi, P., Theurl, I., Vogel, W., Witcher, D. R., Wroblewski, V. J., Murphy, A. T., Zanella, A. & Zoller, H., Mar 2009, In : British Journal of Haematology. 144, 5, p. 789-793 5 p.

Research output: Contribution to journalArticle

Growth Differentiation Factor 15
Hepcidins
Iron
Iron Overload
Erythropoiesis
2008
2 Citations (Scopus)