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Research Output 2000 2019

  • 1288 Citations
  • 19 h-Index
  • 66 Article
  • 1 Letter
  • 1 Review 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
4 Citations (Scopus)

A novel gain-of-function mutation of Piezo1 is functionally affirmed in red blood cells by high-throughput patch clamp

Rotordam, M. G., Fermo, E., Becker, N., Barcellini, W., Brüggemann, A., Fertig, N., Egée, S., Rapedius, M., Bianchi, P. & Kaestner, L., May 1 2019, In : Haematologica. 104, 5, p. e179-e183

Research output: Contribution to journalLetter

Open Access
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

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
1 Citation (Scopus)

The role of new technologies in myeloproliferative neoplasms

Palumbo, G. A., Stella, S., Pennisi, M. S., Pirosa, C., Fermo, E., Fabris, S., Cattaneo, D. & Iurlo, A., Jan 1 2019, In : Frontiers in Oncology. 9, APR, 321.

Research output: Contribution to journalReview article

Open Access
Technology
Mutation
Neoplasms
Molecular Biology
Alleles
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
7 Citations (Scopus)
Congenital Dyserythropoietic Anemia
Hemolytic Anemia
Hereditary Elliptocytosis
Hereditary Spherocytosis
Glucose-6-Phosphate Isomerase
2017
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
2 Citations (Scopus)

Oxidative status in treatment-naïve essential thrombocythemia: a pilot study in a single center

Iurlo, A., De Giuseppe, R., Sciumè, M., Cattaneo, D., Fermo, E., De Vita, C., Consonni, D., Maiavacca, R., Bamonti, F., Gianelli, U. & Cortelezzi, A., Sep 1 2017, In : Hematological Oncology. 35, 3, p. 335-340 6 p.

Research output: Contribution to journalArticle

Essential Thrombocythemia
Glutathione Disulfide
Reactive Oxygen Species
Oxidative Stress
Therapeutics
1 Citation (Scopus)

Paroxysmal nocturnal hemoglobinuria with spontaneous clinical remission

Ferla, V., Zaninoni, A., Fattizzo, B., Fermo, E., Gianelli, U. & Barcellini, W., 2017, In : European Journal of Internal Medicine. 43, p. e11-e14

Research output: Contribution to journalArticle

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
3 Citations (Scopus)

CD18 promoter methylation is associated with a higher risk of thrombotic complications in primary myelofibrosis

Augello, C., Cattaneo, D., Bucelli, C., Terrasi, A., Fermo, E., Martinelli, I., Iurlo, A. & Gianelli, U., 2016, In : Annals of Hematology. 95, 12, p. 1965-1969 5 p.

Research output: Contribution to journalArticle

Primary Myelofibrosis
Methylation
Epigenomics
Thrombophilia
Thrombosis
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
2015
5 Citations (Scopus)

Clinical and morphologic features in five post-polycythemic myelofibrosis patients treated with ruxolitinib

Iurlo, A., Cattaneo, D., Boiocchi, L., Orofino, N., Fermo, E., Cortelezzi, A. & Gianelli, U., Jun 18 2015, In : Annals of Hematology. 94, 10, p. 1749-1751 3 p.

Research output: Contribution to journalArticle

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
9 Citations (Scopus)

Molecular analyses in the diagnosis of myeloproliferative neoplasm-related splanchnic vein thrombosis

Iurlo, A., Cattaneo, D., Gianelli, U., Fermo, E., Augello, C. & Cortelezzi, A., May 1 2015, In : Annals of Hematology. 94, 5, p. 881-882 2 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
18 Citations (Scopus)

Imatinib and ruxolitinib association: First experience in two patients

Iurlo, A., Gianelli, U., Rapezzi, D., Cattaneo, D., Fermo, E., Binda, F., Santambrogio, E., Bucelli, C. & Cortelezzi, A., Jun 1 2014, In : Haematologica. 99, 6

Research output: Contribution to journalArticle

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
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

2010
13 Citations (Scopus)

A novel missense mutation in MVK associated with MK deficiency and dyserythropoietic anemia

Samkan, A., Borzutzky, A., Fermo, E., Treaba, D. O., Dedeoglu, F. & Altura, R. A., Apr 2010, In : Pediatrics. 125, 4

Research output: Contribution to journalArticle

mevalonate kinase
Mevalonate Kinase Deficiency
Missense Mutation
Anemia
Congenital Dyserythropoietic Anemia
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
18 Citations (Scopus)

Oxidative stress is increased in primary and post-polycythemia vera myelofibrosis

Vener, C., Novembrino, C., Bamonti Catena, F., Fracchiolla, N. S., Gianelli, U., Savi, F., Radaelli, F., Fermo, E., Cortelezzi, A., Lonati, S., Menegatti, M. & Lambertenghi Deliliers, G., Nov 2010, In : Experimental Hematology. 38, 11, p. 1058-1065 8 p.

Research output: Contribution to journalArticle

Polycythemia Vera
Primary Myelofibrosis
Reactive Oxygen Species
Oxidative Stress
Homocysteine
61 Citations (Scopus)

RAS mutations contribute to evolution of chronic myelomonocytic leukemia to the proliferative variant

Ricci, C., Fermo, E., Corti, S., Molteni, M., Faricciotti, A., Cortelezzi, A., Deliliers, G. L., Beran, M. & Onida, F., Apr 15 2010, In : Clinical Cancer Research. 16, 8, p. 2246-2256 11 p.

Research output: Contribution to journalArticle

Leukemia, Myelomonocytic, Chronic
Mutation
Alleles
Polymerase Chain Reaction
Mutation Rate
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
2008
2 Citations (Scopus)
91 Citations (Scopus)
Hereditary Spherocytosis
Spectrin
Membrane Proteins
Splenectomy
Osmotic Fragility
7 Citations (Scopus)

Molecular basis of pyrimidine 5′-nucleotidase deficiency caused by 3 newly identified missense mutations (c.187T>C, c.469G>C and c.740T>C) and a tabulation of known mutations

Chiarelli, L. R., Morera, S. M., Galizzi, A., Fermo, E., Zanella, A. & Valentini, G., May 2008, In : Blood cells, molecules & diseases. 40, 3, p. 295-301 7 p.

Research output: Contribution to journalArticle

5'-Nucleotidase
Missense Mutation
Mutation
Enzymes
Hemolytic Anemia
17 Citations (Scopus)

Recessive hereditary methemoglobinemia: Two novel mutations in the NADH-cytochrome b5 reductase gene

Fermo, E., Bianchi, P., Vercellati, C., Marcello, A. P., Garatti, M., Marangoni, O., Barcellini, W. & Zanella, A., Jul 2008, In : Blood cells, molecules & diseases. 41, 1, p. 50-55 6 p.

Research output: Contribution to journalArticle

Cytochrome-B(5) Reductase
Methemoglobinemia
Cytochrome Reductases
Cytochromes b5
Mutation
42 Citations (Scopus)

The significance of bone marrow biopsy and JAK2V617F mutation in the differential diagnosis between the "early" prepolycythemic phase of polycythemia vera and essential thrombocythemia

Gianelli, U., Iurlo, A., Vener, C., Moro, A., Fermo, E., Bianchi, P., Graziani, D., Radaelli, F., Coggi, G., Bosari, S., Deliliers, G. L. & Zanella, A., Sep 2008, In : American Journal of Clinical Pathology. 130, 3, p. 336-342 7 p.

Research output: Contribution to journalArticle

Essential Thrombocythemia
Polycythemia Vera
Differential Diagnosis
Bone Marrow
Biopsy
2007
12 Citations (Scopus)

Erythrocyte adenylate kinase deficiency: characterization of recombinant mutant forms and relationship with nonspherocytic hemolytic anemia

Abrusci, P., Chiarelli, L. R., Galizzi, A., Fermo, E., Bianchi, P., Zanella, A. & Valentini, G., Aug 2007, In : Experimental Hematology. 35, 8, p. 1182-1189 8 p.

Research output: Contribution to journalArticle

Adenylate Kinase
Hemolytic Anemia
Erythrocytes
Complementary DNA
Enzymes
1 Citation (Scopus)
17 Citations (Scopus)

HIC gene, a candidate suppressor gene within a minimal region of loss at 7q31.1 in myeloid neoplasms

Cigognini, D., Corneo, G., Fermo, E., Zanella, A. & Tripputi, P., Apr 2007, In : Leukemia Research. 31, 4, p. 477-482 6 p.

Research output: Contribution to journalArticle

Suppressor Genes
Genes
Neoplasms
Chromosome Deletion
Mutation
8 Citations (Scopus)

Prenatal diagnosis for a novel homozygous mutation in PKLR gene in an Indian family

Gupta, N., Bianchi, P., Fermo, E., Kabra, M., Warang, P., Kedar, P., Gupta, N. & Colah, R., Feb 2007, In : Prenatal Diagnosis. 27, 2, p. 117-118 2 p.

Research output: Contribution to journalArticle

Prenatal Diagnosis
Inborn Genetic Diseases
Mutation
Molecular Biology
Genes
35 Citations (Scopus)

Pyruvate kinase deficiency

Zanella, A., Bianchi, P. & Fermo, E., Jun 2007, In : Haematologica. 92, 6, p. 721-723 3 p.

Research output: Contribution to journalArticle