E. Fermo

A. Zanella, P. Bianchi, A. Cortelezzi, 2004, European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics.

Paroxysmal nocturnal hemoglobinuria with spontaneous clinical remission.

U. Gianelli, E. Fermo, W. Barcellini, 2017, European journal of internal medicine.

Iron status and HFE genotype in erythrocyte pyruvate kinase deficiency: study of Italian cases.

A. Zanella, E. Taioli, P. Bianchi, 2001, Blood cells, molecules & diseases.

Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families

A. Zanella, N. Mirra, P. Bianchi, 2017, Case reports in hematology.

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

D. Consonni, A. Cortelezzi, U. Gianelli, 2017, Hematological oncology.

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

C. Augello, A. Cortelezzi, U. Gianelli, 2015, Annals of Hematology.

Pyruvate kinase deficiency: the genotype-phenotype association.

A. Zanella, L. Chiarelli, P. Bianchi, 2007, Blood reviews.

Hereditary erythrocyte pyrimidine 5′-nucleotidase deficiency: A biochemical, genetic and clinical overview

A. Zanella, L. Chiarelli, G. Valentini, 2006, Hematology.

How will next generation sequencing (NGS) improve the diagnosis of congenital hemolytic anemia?

P. Bianchi, E. Fermo, C. Vercellati, 2020, Annals of translational medicine.

The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper

L. D. Da Costa, A. Iolascon, R. Russo, 2022, HemaSphere.

The use of next‐generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper *

B. van der Zwaag, L. D. Da Costa, A. Iolascon, 2022, British journal of haematology.

Molecular heterogeneity of pyruvate kinase deficiency.

P. Bianchi, E. Fermo, 2020, Haematologica.

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

J. Segovia, J. Hoyer, B. Glader, 2018, American journal of hematology.

Imatinib and ruxolitinib association: first experience in two patients

A. Cortelezzi, U. Gianelli, E. Fermo, 2014, Haematologica.

Increased resistance of PIG-A- bone marrow progenitors to tumor necrosis factor a and interferon gamma: possible implications for the in vivo dominance of paroxysmal nocturnal hemoglobinuria clones.

A. Zanella, P. Bianchi, E. Fermo, 2004, Haematologica.

Hereditary pyrimidine 5′‐nucleotidase deficiency: from genetics to clinical manifestations

A. Zanella, P. Bianchi, G. Valentini, 2006, British journal of haematology.

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

A. Cortelezzi, U. Gianelli, E. Fermo, 2015, Annals of Hematology.

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

A. Zanella, L. Chiarelli, P. Bianchi, 2012, Molecular Genetics and Metabolism.

Functional analysis of pyrimidine 5'-nucleotidase mutants causing nonspherocytic hemolytic anemia.

A. Galizzi, A. Zanella, L. Chiarelli, 2005, Blood.

Pyruvate Kinase Deficiency

A. Zanella, P. Bianchi, E. Fermo, 2020, Exploration of Host Genetic Factors associated with Malaria.

Design and Methods

A. Galizzi, A. Zanella, L. Chiarelli, 2022 .

Molecular characterization of six unrelated Italian patients affected by pyrimidine 5′‐nucleotidase deficiency

A. Zanella, P. Bianchi, B. Rotoli, 2003, British journal of haematology.

‘Gardos Channelopathy’: a variant of hereditary Stomatocytosis with complex molecular regulation

A. Zanella, L. Kaestner, N. Mirra, 2017, Scientific Reports.

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

A. Galizzi, A. Zanella, L. Chiarelli, 2007, Experimental hematology.

Red cell pyruvate kinase deficiency: 17 new mutations of the PK‐LR gene

A. Zanella, L. Chiarelli, P. Bianchi, 2005, British journal of haematology.

A new variant of adenylate kinase (delG138) associated with severe hemolytic anemia.

A. Zanella, P. Bianchi, E. Fermo, 2004, Blood cells, molecules & diseases.

Molecular characterization of the PK‐LR gene in sixteen pyruvate kinase‐deficient patients

A. Zanella, P. Bianchi, F. Cotton, 2001, British journal of haematology.

Screening tools for hereditary hemolytic anemia: new concepts and strategies

P. Bianchi, E. Fermo, C. Vercellati, 2021, Expert review of hematology.

Hereditary red cell membrane defects: diagnostic and clinical aspects.

A. Zanella, P. Bianchi, E. Fermo, 2011, Blood transfusion = Trasfusione del sangue.

Congenital Hemolytic Anemias: Is There a Role for the Immune System?

P. Bianchi, E. Fermo, C. Vercellati, 2020, Frontiers in Immunology.

Red cell pyruvate kinase deficiency: molecular and clinical aspects

Paola Bianchi, A. Zanella, P. Bianchi, 2005, British Journal of Haematology.

Chromosome 7q31.1 deletion in myeloid neoplasms.

A. Zanella, P. Bianchi, E. Fermo, 2014, Human pathology.

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

J. Vockley, M. Palladino, B. Roland, 2019, Biochimica et biophysica acta. Molecular basis of disease.

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

K. Heesom, A. Toye, P. Bianchi, 2018, British Journal of Haematology.

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

B. van der Zwaag, A. Toye, P. Bianchi, 2016, Haematologica.

Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene

A. Zanella, P. Righetti, P. Bianchi, 2009, Human mutation.

Evaluation of the main regulators of systemic iron homeostasis in pyruvate kinase deficiency

D. Consonni, A. Iolascon, R. Russo, 2021, Scientific Reports.

Six novel variants in the PKLR gene associated with pyruvate kinase deficiency in Argentinian patients.

A. Turjanski, P. Bianchi, L. Defelipe, 2021, Clinical biochemistry.

Genotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency

P. Newburger, D. Morton, M. Wlodarski, 2020, American journal of hematology.

Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.

P. Newburger, D. Morton, E. Neufeld, 2018, Blood.

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

A. Zanella, P. Bianchi, A. Cortelezzi, 2015, Transfusion.

Analysis of JAK2 V167F Mutation in Myelodysplastic Syndromes.

A. Zanella, M. Colombi, P. Bianchi, 2007 .

Clinical and hematologic features of 300 patients affected by hereditary spherocytosis grouped according to the type of the membrane protein defect

A. Zanella, E. Fermo, P. Pedotti, 2008, Haematologica.

Clinical and Molecular Spectrum of Glucose-6-Phosphate Isomerase Deficiency. Report of 12 New Cases

A. Zanella, P. Bianchi, E. Fermo, 2019, Front. Physiol..

Changing trends of splenectomy in hereditary spherocytosis: The experience of a reference Centre in the last 40 years

A. Zanella, P. Bianchi, E. Fermo, 2022, British journal of haematology.

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

M. Cappellini, P. Bianchi, E. Fermo, 2019, British journal of haematology.

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

N. Fertig, Nadine Becker, Markus Rapedius, 2018, Haematologica.

A Novel ALAS2 Missense Mutation in Two Brothers With Iron Overload and Associated Alterations in Serum Hepcidin/Erythroferrone Levels

D. Girelli, O. Olivieri, A. Giorgetti, 2020, Frontiers in Physiology.

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

A. Zanella, P. Bianchi, E. Fermo, 2008, Blood cells, molecules & diseases.

Recommendations for diagnosis and treatment of methemoglobinemia

A. Iolascon, A. Kulozik, R. Russo, 2021, American journal of hematology.

Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study

S. Perrotta, A. Zanella, E. Keskin, 2021, Frontiers in Physiology.

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

K. Schwarz, H. Heimpel, A. Zanella, 2016, British journal of haematology.

Molecular Characterization of 140 Patients in the Pyruvate Kinase Deficiency (PKD) Natural History Study (NHS): Report of 20 New Variants

P. Newburger, D. Morton, M. Wlodarski, 2015 .

A case of hereditary spherocytosis misdiagnosed as pyruvate kinase deficient hemolytic anemia.

A. Zanella, P. Bianchi, E. Fermo, 2013, Clinical laboratory.

Gardos channelopathy: functional analysis of a novel KCNN4 variant.

G. Bouyer, L. Kaestner, G. Graziadei, 2020, Blood advances.

Gardos Channel Mutation Is Associated with Hereditary Dehydrate Stomatocytosis: a Complex Channelopathy

A. Zanella, N. Mirra, A. Makhro, 2015 .

Effect of primary lesions in cytoskeleton proteins on red cell membrane stability in patients with hereditary spherocytosis

P. Bianchi, E. Fermo, C. Vercellati, 2022, Frontiers in Physiology.

Use of Laser Assisted Optical Rotational Cell Analyzer (LoRRca MaxSis) in the Diagnosis of RBC Membrane Disorders, Enzyme Defects, and Congenital Dyserythropoietic Anemias: A Monocentric Study on 202 Patients

D. Consonni, A. Zanella, P. Bianchi, 2018, Front. Physiol..

Clinical and molecular aspects of 23 patients affected by paroxysmal nocturnal hemoglobinuria

A. Zanella, P. Bianchi, F. Barraco, 2004, American journal of hematology.

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

A. Cortelezzi, U. Gianelli, E. Fermo, 2010, Experimental hematology.

Hematological, molecular and cytokine changes after reduced intensity bone marrow transplantation for paroxysmal nocturnal hemoglobinuria

E. Fermo, D. Soligo, W. Barcellini, 2007, Leukemia & lymphoma.

Mechanistic ion channel interactions in red cells of patients with Gárdos channelopathy.

I. Bernhardt, L. Kaestner, P. Bianchi, 2021, Blood advances.

CDAII presenting as hydrops foetalis: molecular characterization of two cases.

A. Zanella, P. Bianchi, L. Notarangelo, 2010, Blood cells, molecules & diseases.

The Role of New Technologies in Myeloproliferative Neoplasms

E. Fermo, S. Stella, A. Iurlo, 2019, Front. Oncol..

Triple-Negative Essential Thrombocythemia: Clinical-Pathological and Molecular Features. A Single-Center Cohort Study

L. Baldini, G. Croci, P. Bianchi, 2021, Frontiers in Oncology.

nonspherocytic hemolytic anemia -nucleotidase mutants causing ' Functional analysis of pyrimidine 5

A. Galizzi, A. Zanella, L. Chiarelli, 2013 .

Reply to “Flow cytometry test for hereditary spherocytosis”. Haematologica. 2012;97(12):e47

A. Zanella, P. Bianchi, E. Fermo, 2012, Haematologica.

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

A. Terrasi, C. Augello, I. Martinelli, 2016, Annals of Hematology.

A Novel Missense Mutation in MVK Associated With MK Deficiency and Dyserythropoietic Anemia

R. Altura, D. Treaba, A. Borzutzky, 2010, Pediatrics.

Summary of Joint European Hematology Association (EHA) and EuroBloodNet Recommendations on Diagnosis and Treatment of Methemoglobinemia

A. Iolascon, A. Kulozik, R. Russo, 2021, HemaSphere.

Cerebellar atrophy in a child with hereditary methemoglobinemia type II

P. Bianchi, E. Giustina, C. Fusco, 2011, Brain and Development.

Pathological and genomic features of myeloproliferative neoplasms associated with splanchnic vein thrombosis in a single-center cohort

N. Bolli, D. Consonni, L. Baldini, 2023, Annals of Hematology.

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.

A. Galizzi, A. Zanella, L. Chiarelli, 2008, Blood cells, molecules & diseases.

A Case With Pyruvate Kinase Deficiency Remarkably Sensitive to Heat.

P. Bianchi, E. Fermo, N. Özbek, 2018, Journal of pediatric hematology/oncology.

‘Gardos Channelopathy’: a variant of hereditary Stomatocytosis with complex molecular regulation

A. Zanella, L. Kaestner, N. Mirra, 2017, Scientific Reports.

Severe hemolytic anemia in a newborn: Look out for rare Gardos channelopathies due to KCNN4 mutation

S. Francescato, L. Sainati, R. Colombatti, 2023, Pediatric blood & cancer.

Overhydrated hereditary stomatocytosis: A rare cause of familiar persistent macrocytosis due to SLC4A1 variants

P. Bianchi, E. Fermo, F. Ferrua, 2023, Pediatric blood & cancer.

Biological and molecular characterization of PNH‐like lymphocytes emerging after Campath‐1H therapy

P. Bianchi, A. Cortelezzi, E. Fermo, 2001, British journal of haematology.

Red cell pyruvate kinase deficiency: molecular and clinical aspects

A. Zanella, P. Bianchi, G. Valentini, 2005, British journal of haematology.

Evaluation of the main regulators of systemic iron homeostasis in pyruvate kinase deficiency

D. Consonni, A. Iolascon, R. Russo, 2023, Scientific Reports.

Immunomodulatory cytokines and clonal dynamics in low‐risk myelodysplastic syndromes patients treated with luspatercept

N. Bolli, E. Fermo, W. Barcellini, 2023, American journal of hematology.

Towards an External Quality Assessment for Next Generation Sequencing in the Diagnosis of Rare Inherited Anaemias

D. Swinkels, H. Tamary, A. Iolascon, 2018, Blood.

Use of Next Generation Sequencing Panel to Clarify Undiagnosed Cases of Hereditary Hemolytic Anemias

S. Perrotta, A. Zanella, E. Keskin, 2017 .

A case of congenital red cell pyruvate kinase deficiency associated with hereditary stomatocytosis.

A. Zanella, P. Bianchi, E. Fermo, 2008, Blood cells, molecules & diseases.

When alpha spectrin null alleles meet low expression alpha spectrin polymorphisms

P. Bianchi, E. Fermo, C. Vercellati, 2023, British journal of haematology.

Pyruvate kinase deficiency.

E. Fermo, Paola Bianchi, Alberto Zanella, 2007, Haematologica.

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

M. Kabra, P. Bianchi, E. Fermo, 2007, Prenatal diagnosis.

Reply to “Testing for hereditary spherocytosis: a French experience”. Haematologica. 2012;97(12):e48-9

A. Zanella, P. Bianchi, E. Fermo, 2012, Haematologica.

Erratum: Red cell pyruvate kinase deficiency: 17 New mutations of the PK-LR gene (British Journal of Haematology (2005) 129, (839-846))

A. Zanella, L. Chiarelli, P. Bianchi, 2005 .

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

Y. Oymak, P. Bianchi, E. Fermo, 2019, Journal of pediatric hematology/oncology.

Artificial neural networks for 3D cell shape recognition from confocal images

P. Bianchi, K. Hinkelmann, G. Simionato, 2020, 2005.08040.

Identification of a Novel Mutation in the SEC23B Gene Associated With Congenital Dyserythropoietic Anemia Type II Through the Use of Next-generation Sequencing Panel in an Undiagnosed Case of Nonimmune Hereditary Hemolytic Anemia.

Y. Oymak, C. Vergin, P. Bianchi, 2018, Journal of pediatric hematology/oncology.

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

K. Heesom, A. Toye, P. Bianchi, 2018, British journal of haematology.