P. Bianchi

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

The incidence of coeliac disease in adult first degree relatives.

G. Corazza, C. Klersy, F. Biagi, 2008, Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver.

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.

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

C. Augello, C. Brambilla, S. Bosari, 2015, Leukemia research.

Pyruvate kinase deficiency: the genotype-phenotype association.

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

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.

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.

A case of complete adenylate kinase deficiency due to a nonsense mutation in AK‐1 gene (Arg 107 → Stop, CGA → TGA) associated with chronic haemolytic anaemia

A. Zanella, P. Bianchi, F. Barraco, 1999, British journal of haematology.

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

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

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.

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

M. Paulli, E. Berti, P. Bianchi, 2019, Journal of the European Academy of Dermatology and Venereology : JEADV.

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

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

Management of infection in PNH patients treated with eculizumab or other complement inhibitors: Unmet clinical needs.

A. Zanella, G. Barosi, A. Risitano, 2022, Blood reviews.

Defective erythroid maturation in gelsolin mutant mice

W. Witke, G. Barbarani, S. Ottolenghi, 2012, Haematologica.

Pyruvate kinase deficiency.

A. Zanella, P. Bianchi, E. Fermo, 2007, Haematologica.

Two new mutations of the P5'N-1 gene found in Italian patients with hereditary hemolytic anemia: the molecular basis of the red cell enzyme disorder.

A. Galizzi, A. Zanella, L. Chiarelli, 2006, Haematologica.

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

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

Study of the molecular defects in glucose phosphate isomerase-deficient patients affected by chronic hemolytic anemia.

A. Zanella, G. Sirchia, A. Iolascon, 1996, Blood.

Clinically Relevant Gene Editing in Hematopoietic Stem Cells for the Treatment of Pyruvate Kinase Deficiency Hemolytic Anemia

R. Turk, M. Behlke, M. Porteus, 2021, bioRxiv.

Dental enamel defects in adult coeliac disease: prevalence and correlation with symptoms and age at diagnosis.

D. Balduzzi, G. Corazza, F. Biagi, 2013, European journal of internal medicine.

‘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.

Human erythrocyte pyruvate kinase: characterization of the recombinant enzyme and a mutant form (R510Q) causing nonspherocytic hemolytic anemia.

A. Galizzi, A. Zanella, D. Abraham, 2001, Blood.

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

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

A variant of the EPB3 gene of the anti‐Lepore type in hereditary spherocytosis

A. Zanella, G. Sirchia, G. Barosi, 1997, British journal of haematology.

Molecular characterization of PK-LR gene in pyruvate kinase-deficient Italian patients.

A. Zanella, G. Sirchia, P. Bianchi, 1997, Blood.

The Immunomodulatory Effect and Clinical Efficacy of Daratumumab in a Patient With Cold Agglutinin Disease

P. Bianchi, L. Malcovati, A. Gallì, 2021, Frontiers in Immunology.

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.

Pklr Intron Splicing-Associated Mutations and Alternate Diagnoses Are Common in Pyruvate Kinase Deficient Patients with Single or No Pklr Coding Mutations

B. Glader, P. Bianchi, H. Yaish, 2018, Blood.

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

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

Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

I. Gut, B. Wirth, F. Muntoni, 2020, The Journal of molecular diagnostics : JMD.

Dissection of Bone Marrow Microenvironment By Single Cell RNA Sequencing in Warm AIHA Patients: A Proof-of-Concept Analysis

N. Bolli, L. Baldini, P. Bianchi, 2021, Blood.

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

A. Zanella, S.‐H. Lee, A. Iolascon, 2015, International journal of laboratory hematology.

Red cell pyruvate kinase deficiency: molecular and clinical aspects

Paola Bianchi, A. Zanella, P. Bianchi, 2005, British journal of haematology.

Red cell pyruvate kinase deficiency: from genetics to clinical manifestations.

A. Zanella, P. Bianchi, P Bianchi, 2000, Bailliere's best practice & research. Clinical 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 .

The variable manifestations of disease in pyruvate kinase deficiency and their management.

B. Glader, P. Bianchi, H. Al‐Samkari, 2020, 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.

Clinically relevant gene editing in hematopoietic stem cells for the treatment of pyruvate kinase deficiency

R. Turk, M. Behlke, M. Porteus, 2021, Molecular therapy. Methods & clinical development.

Trends in the Development of Diagnostic Tools for Red Blood Cell-Related Diseases and Anemias

L. Kaestner, P. Bianchi, 2020, Frontiers in Physiology.

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.

Who should be eligible for gene therapy clinical trials in red blood cell pyruvate kinase deficiency (PKD)?: Toward an expanded definition of severe PKD

A. Zanella, J. Segovia, P. Bianchi, 2022, American journal of hematology.

Structure and Function of Human Erythrocyte Pyruvate Kinase

Laurent R. Chiarelli, Andrea Mattevi, Donald J. Abraham, 2002, The Journal of Biological Chemistry.

Hematologically important mutations: red cell pyruvate kinase (2nd update).

A. Zanella, P. Bianchi, L. Baronciani, 1998, Blood cells, molecules & diseases.

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.

Worldwide study of hematopoietic allogeneic stem cell transplantation in pyruvate kinase deficiency

J. Segovia, F. Smiers, R. Raymakers, 2017, Haematologica.

Hematologically important mutations: red cell pyruvate kinase (Third update).

A. Zanella, P. Bianchi, P Bianchi, 1998, Blood cells, molecules & diseases.

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.

Rare Anemias: Are Their Names Just Smoke and Mirrors?

L. Kaestner, P. Bianchi, R. van Wijk, 2021, Frontiers in Physiology.

Clinical response to gluten withdrawal is not an indicator of coeliac disease

G. Corazza, F. Biagi, P. Bianchi, 2008, Scandinavian journal of gastroenterology.

Prevalence and natural history of potential celiac disease in adult patients

D. Balduzzi, P. Gobbi, G. Corazza, 2013, Scandinavian journal of gastroenterology.

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

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

Hereditary Disorders of the Red Cell Membrane and Disorders of Red Cell Metabolism

N. Mohandas, P. Bianchi, 2015 .

A gluten-free diet score to evaluate dietary compliance in patients with coeliac disease.

G. Corazza, A. Andrealli, C. Klersy, 2009, The British journal of nutrition.

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

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

Heterogeneity among splanchnic vein thrombosis associated with myeloproliferative neoplasms.

P. Bianchi, A. Cortelezzi, U. Gianelli, 2018, European journal of internal medicine.

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

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

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

E. Sabattini, L. Baldini, P. Bianchi, 2019, Hematological oncology.

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

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

Red Blood Cell Morphodynamics: A New Potential Marker in High-Risk Patients

D. Andreini, F. Veglia, E. Tremoli, 2021, Frontiers in Physiology.

The significance of duodenal mucosal atrophy in patients with common variable immunodeficiency: a clinical and histopathologic study.

V. Lougaris, A. Plebani, G. Corazza, 2012, American journal of clinical pathology.

Diagnostic delay in adult coeliac disease: An Italian multicentre study.

A. Gasbarrini, A. Vanoli, G. Corazza, 2022, Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver.

The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study design

D. Pospíšilová, V. Viprakasit, Junlong Li, 2023, BMJ Open.

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

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

The variable manifestations of disease in pyruvate kinase deficiency and their management

B. Glader, P. Bianchi, H. Al‐Samkari, 2020, Haematologica.

PIEZO1 gain-of-function mutations delay reticulocyte maturation in hereditary xerocytosis

G. Streekstra, J. Dobbe, A. Toye, 2019, Haematologica.

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.

Evans' Syndrome in Adults: An Observational Multicentre Study

A. Patriarca, P. Bianchi, M. Mingot-Castellano, 2020 .

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

D. Fanoni, E. Berti, P. Bianchi, 2017, Human pathology.

Previous immunosuppressive therapy is a risk factor for immune reconstitution inflammatory syndrome in Whipple's disease.

D. Balduzzi, G. Corazza, F. Fenollar, 2012, Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver.

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

D. Consonni, C. Augello, S. Bosari, 2015, British journal of haematology.

Video capsule endoscopy and histology for small-bowel mucosa evaluation: a comparison performed by blinded observers.

Catherine Klersy, Emanuele Rondonotti, Federico Biagi, 2006, Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association.

Carriage of CARD15 variants and smoking as risk factors for resective surgery in patients with Crohn's ileal disease

P. Bianchi, A. Carrara, S. Saibeni, 2005, Alimentary pharmacology & therapeutics.

Antibodies to Wheat High-Molecular-Weight Glutenin Subunits in Patients with Celiac Disease

G. Corazza, A. de Silvestri, I. Katakis, 2012, International Archives of Allergy and Immunology.

CEREBELLAR SIGNS IN CELIAC DISEASE

M. Versino, G. Corazza, F. Biagi, 2009, Neurology.

Clinical and Histopathological Features of an Italian Monocentric Series of Primary Small Bowel T-Cell Lymphomas

A. Vanoli, G. Corazza, M. Paulli, 2023, Cancers.

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.

Glutaraldehyde – A Subtle Tool in the Investigation of Healthy and Pathologic Red Blood Cells

M. Leonetti, M. von Lindern, L. Kaestner, 2019, Front. Physiol..

Gluten sensitivity and the CNS: diagnosis and treatment

M. Versino, G. Corazza, F. Biagi, 2010, The Lancet Neurology.

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.

Hematologically important mutations: red cell pyruvate kinase.

A. Zanella, P. Bianchi, L. Baronciani, 1996, Blood cells, molecules & diseases.

Cytokine genetic profile in Whipple’s disease

M. Martinetti, G. Corazza, F. Biagi, 2012, European Journal of Clinical Microbiology & Infectious Diseases.

EGFR overexpression in malignant pleural mesothelioma. An immunohistochemical and molecular study with clinico-pathological correlations.

G. Ceresoli, M. Alloisio, M. Roncalli, 2006, Lung cancer.

Erdheim–Chester Disease With Multiorgan Involvement, Following Polycythemia Vera

C. Doglioni, G. Cavalli, L. Dagna, 2016, Medicine.

A new case of adenylate kinase associated with hemolytic anemia due to anon sense mutation in AK-1 gene ARG107->stop. CGA->TGA

A. Zanella, P. Bianchi, F. Barraco, 1997 .

A score that verifies adherence to a gluten-free diet: a cross-sectional, multicentre validation in real clinical life.

D. Balduzzi, G. Corazza, A. Andrealli, 2012, The British journal of nutrition.

Recommendations for Centres of Expertise in Rare Anaemias. The ENERCA White Book

María del Mar Mañú Pereira, H. Heimpel, C. Romeo-Casabona, 2014, Thalassemia Reports.

Anti-Goblet Cell Antibodies for the Diagnosis of Autoimmune Enteropathy?

G. Corazza, W. Schmidt, J. Meier, 2009, The American Journal of Gastroenterology.

Is a gluten-free diet necessary in patients with potential celiac disease?

G. Corazza, F. Biagi, P. Bianchi, 2007, Minerva Gastroenterologica e Dietologica.

Red cell pyruvate kinase deficiency: molecular and clinical aspects

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

Cytokine genetic profile in Whipple’s disease

M. Martinetti, G. Corazza, F. Biagi, 2012, European Journal of Clinical Microbiology & Infectious Diseases.

Editorial: New Methods for Red Blood Cell Research and Diagnosis

P. Bianchi, R. van Wijk, 2021, Frontiers in Physiology.

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

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