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Journal Articles

A Yoda1-Based Approach to Investigate Piezo1 Channels in Red Blood Cells Using Automated Patch Clamp Technology

Maria Giustina Rotordam, BSc, MSc, Elisa Fermo, PhD, Nadine Becker, PhD, Wilma Barcellini, MD, Andrea Brüggemann, PhD CSO, Niels Fertig, PhD CEO, Stéphane Egée, PhD, Markus Rapedius, PhD, Paola Bianchi, BSc, PhD, Lars Kaestner, Dr. rer. nat.

Blood (2018) 132 (Supplement 1): 1031.

https://doi.org/10.1182/blood-2018-99-118043

Published: 2018

Journal Articles

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

Blood (2018) 132 (Supplement 1): 4936.

https://doi.org/10.1182/blood-2018-99-111609

Published: 2018

Journal Articles

Genotype-Phenotype Correlation and Molecular Heterogeneity in Pyruvate Kinase Deficiency: Data from the PKD Natural History Study

Paola Bianchi, BSc, PhD, Elisa Fermo, PhD, Kimberly Lezon-Geyda, PhD, Patrick G. Gallagher, MD, Richard van Wijk, PhD, Eduard J. Van Beers, MD, Hassan M. Yaish, MD, Janet L. Kwiatkowski, MD, Peter E. Newburger, MD, Yaddanapudi Ravindranath, MBBS, Oliver Andres, MD, Wilma Barcellini, MD, D. Holmes Morton, MD, Bertil Glader, MD, Stefan W. Eber, MD, Satheesh Chonat, MD, Nina Kollmar, MD, Jenny M. Despotovic, DO, MS, Christine M. Knoll, MD, Kevin H.M. Kuo, MD MSc, FRCPC, Dagmar Pospisilova, Prof. MD PhD, Yves D. Pastore, MD, Alexis A Thompson, MD MPH, Winfred Wang, MD, Marcin W. Wlodarski, MD PhD, Jennifer A. Rothman, MD, Heng Wang, MD PhD, Suzanne Holzhauer, MD MSc, Vicky R. Breakey, BSc,MDFRCPC, Joachim B. Kunz, MD, Sujit Sheth, MD, Mukta Sharma, MD MPH, Melissa J. Rose, DO, Heather A. Bradeen, MD, Melissa N. McNaull, MD, Gabrielle P. Ooyama, Nolan Neu, BS, Hasan Al-Sayegh, Wendy B. London, PhD, Rachael F. Grace, MD

Blood (2017) 130 (Supplement 1): 3479.

https://doi.org/10.1182/blood.V130.Suppl_1.3479.3479

Published: 2017

Journal Articles

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

Elisa Fermo, PhD, Cristina Vercellati, PhD, Anna Paola Marcello, PhD, Ebru Yilmaz Keskin, MD, Aurora Feliu Torres, MD, Silverio Perrotta, Tekin Aksu, MD, Anna Zaninoni, BS, Valentina Brancaleoni, MSc, Richard van Wijk, PhD, Sultan Aydin Koker, MD, Alberto Zanella, MD, Agostino Cortelezzi, Prof, Wilma Barcellini, MD, Paola Bianchi, BSc, PhD

Blood (2017) 130 (Supplement 1): 3480.

https://doi.org/10.1182/blood.V130.Suppl_1.3480.3480

Published: 2017

Journal Articles

Biallelic Mutations in PARP4 Are Linked to a Variant Form of Congenital Dyserythropoietic Anemia

Paola Bianchi, PhD, Elisa Fermo, PhD, Jennifer C Eng, Jacob C Ulirsch, Cristina Vercellati, BSc, Paola Braidotti, MD, Gordon Hildick-Smith, Timothy J Satchwell, PhD, Stephanie Pellegrin, PhD, Alberto Zanella, MD, Wilma Barcellini, MD, Barry H. Paw, MD, PhD, Ashley Mark Toye, PhD, Vijay G Sankaran, MD PhD

Blood (2015) 126 (23): 272.

https://doi.org/10.1182/blood.V126.23.272.272

Published: 2015

Journal Articles

Diagnostic Power of Laser Assisted Optical Rotational Cell Analyzer (LoRRca MaxSis) Evaluated in 118 Patients Affected By Hereditary Hemolytic Anemias

Paola Bianchi, PhD, Anna Zaninoni, BSc, PhD, Elisa Fermo, PhD, Cristina Vercellati, BSc, Marcello Anna Paola, BSc, Alberto Zanella, MD, Agostino Cortelezzi, MD, Wilma Barcellini, MD

Blood (2015) 126 (23): 942.

https://doi.org/10.1182/blood.V126.23.942.942

Published: 2015

Journal Articles

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

Elisa Fermo, PhD, Anna Yu. Bogdanova, Dr PhD, Polina Petkova-Kirova, PhD, Anna Zaninoni, BSc, PhD, Anna Paola Marcello, PhD, Asya Makhro, PhD, Pascal Hänggi, PhD, Laura Hertz, PhD, Jens Danielczok, Nadia Mirra, MD, Alberto Zanella, MD, Wilma Barcellini, MD, Kaestner Lars, PhD, Paola Bianchi, PhD

Blood (2015) 126 (23): 3333.

https://doi.org/10.1182/blood.V126.23.3333.3333

Published: 2015

Journal Articles

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

Blood (2015) 126 (23): 3337.

https://doi.org/10.1182/blood.V126.23.3337.3337

Published: 2015

Journal Articles

25-Oh Vitamin D, Vitamin D Receptor and Immunomodulatory Cytokines Serum Levels in Patients with Autoimmune Citopenias: Correlation with Hematologic Parameters and Clinical Severity

Bruno Fattizzo, MD, Anna Zaninoni, BS, Paola Bianchi, BSC, PhD, Elisa Fermo, PhD, Francesco Nesa, MD, Wilma Barcellini, MD

Blood (2014) 124 (21): 4004.

https://doi.org/10.1182/blood.V124.21.4004.4004

Published: 2014

Journal Articles

A Case of Congenital Red Cell Pyruvate Kinase Deficiency Associated with Hereditary Spherocytosis

Cristina Vercellati, PhD, Anna Paola Maria Luisa Marcello, PhD, Elisa Fermo, PhD, Paola Bianchi, PhD, Carla Boschetti, Alessandra Iurlo, M.D., Alberto Zanella, M.D., Wilma Barcellini, MD

Blood (2011) 118 (21): 5272.

https://doi.org/10.1182/blood.V118.21.5272.5272

Published: 2011

Journal Articles

Molecular Analysis of the SEC23B Gene In Patients Affected by Congenital Dyserythropoietic Anemia Type II (CDAII)

Paola Bianchi, PhD, Klaus Schwarz, MD, Elisa Fermo, PhD, Katja Heinrich, MD, Cristina Vercellati, PhD, Anna Paola Maria Luisa Marcello, PhD, Richard van Wijk, PhD, Rob van Zwieten, MD, Laura Banov, MD, Antonella Sau, MD, Walter A. Wuillemin, MD, Stephen Opat, MD, Wilma Barcellini, MD, Hermann Heimpel, MD, Prof., Alberto Zanella, MD

Blood (2010) 116 (21): 4227.

https://doi.org/10.1182/blood.V116.21.4227.4227

Published: 2010

Journal Articles

Clinical and Haematologic Features of 300 Patients Affected by Hereditary Spherocytosis as a Function of the Type of the Membrane Protein Defect.

Wilma Barcellini, MD, Mariagabriella Mariani, PhD, Cristina Vercellati, PhD, Anna P. Marcello, PhD, Elisa Fermo, PhD, Paola Pedotti, Carla Boschetti, MD, Alberto Zanella, MD

Blood (2007) 110 (11): 1724.

https://doi.org/10.1182/blood.V110.11.1724.1724

Published: 2007

Journal Articles

Coexistence of Congenital Red Cell Pyruvate Kinase Deficiency and Hereditary Stomatocytosis.

Anna P. Marcello, PhD, Cristina Vercellati, PhD, Elisa Fermo, PhD, Paola Bianchi, PhD, Wilma Barcellini, MD, Alberto Zanella, MD

Blood (2007) 110 (11): 1738.

https://doi.org/10.1182/blood.V110.11.1738.1738

Published: 2007

Journal Articles

Presence of JAK2 V617F Mutation in Peripheral Blood of Blood Donors with Upper-Limit Hematocrit and Platelet Values.

Paola Bianchi, PhD, Elisa Fermo, PhD, Fulvio Mozzi, M.D., Maurizio Marconi, M.D., Alberto Zanella, M.D.

Blood (2007) 110 (11): 2533.

https://doi.org/10.1182/blood.V110.11.2533.2533

Published: 2007

Journal Articles

Analysis of JAK2 V167F Mutation in Myelodysplastic Syndromes.

Elisa Fermo, PhD, Anna Zaninoni, PhD, Francesca G. Imperiali, PhD, Paola Bianchi, PhD, Mariangela Colombi, MD, Wilma Barcellini, MD, Alberto Zanella, MD

Blood (2007) 110 (11): 4591.

https://doi.org/10.1182/blood.V110.11.4591.4591

Published: 2007

Journal Articles

Recessive Congenital Methaemoglobinaemia: Three New Mutations in the NADH-Cytochrome b5 Reductase Gene.

Elisa Fermo, PhD, Paola Bianchi, PhD, Cristina Vercellati, PhD, Anna P. Marcello, PhD, Wilma Barcellini, MD, Ornella Marangoni, MD, Massimo Garatti, MD, Alberto Zanella, MD

Blood (2006) 108 (11): 1576.

https://doi.org/10.1182/blood.V108.11.1576.1576

Published: 2006

Journal Articles

Early-Polycythemia Vera (e-PV) with Thrombocytosis: Clinical Characteristics, Morphological Features and JAK2 V617F Mutational Status Contributing to the Differential Diagnosis with Essential Thrombocythemia.

Alessandra Iurlo, MD, Umberto Gianelli, MD, Alessia Moro, Paola Bianchi, PhD, Elisa Fermo, PhD, Claudia Vener, MD, Federica Savi, Radaelli Franca, MD, Silvano Bosari, Alberto Zanella, MD

Blood (2006) 108 (11): 3628.

https://doi.org/10.1182/blood.V108.11.3628.3628

Published: 2006

Journal Articles

Immunological, Molecular and Cytokine Changes after Reduced Intensity Bone Marrow Transplantation for PNH: A 2 Years Follow-Up.

Wilma Barcellini, MD, Francesca G. Imperiali, PhD, Anna Zaninoni, PhD, Elisa Fermo, PhD, Carla Boschetti, MD, Davide Soligo, MD, Giorgio Lambertenghi Deliliers, MD, Alberto Zanella, MD

Blood (2005) 106 (11): 5388.

https://doi.org/10.1182/blood.V106.11.5388.5388

Published: 2005

Journal Articles

A Case of Chronic Myelomonocytic Leukemia Progressing from Dysplastic to Proliferative Phenotype after Acquisition of a RAS Point Mutation.

Clara Ricci, MS, Francesco Onida, MD, Elisa Fermo, PhD, Ermanna Rovida, PhD, Federica Servida, PhD, Agostino Cortelezzi, MD, Giorgio Lambertenghi-Deliliers, MD, Davide Soligo, MD, PhD

Blood (2005) 106 (11): 4958.

https://doi.org/10.1182/blood.V106.11.4958.4958

Published: 2005

Journal Articles

Pyrimidine 5′ Nucleotidase Deficiency: Clinical and Molecular Characterization of Two New Italian Patients.

Elisa Fermo, PhD, Anna Marcello, PhD, Paola Bianchi, PhD, Simona Viglio, Laurent R. Chiarelli, Giovanna Valentini, Alberto Zanella, MD

Blood (2005) 106 (11): 3711.

https://doi.org/10.1182/blood.V106.11.3711.3711

Published: 2005

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A Yoda1-Based Approach to Investigate Piezo1 Channels in Red Blood Cells Using Automated Patch Clamp Technology

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

Genotype-Phenotype Correlation and Molecular Heterogeneity in Pyruvate Kinase Deficiency: Data from the PKD Natural History Study

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

Biallelic Mutations in PARP4 Are Linked to a Variant Form of Congenital Dyserythropoietic Anemia

Diagnostic Power of Laser Assisted Optical Rotational Cell Analyzer (LoRRca MaxSis) Evaluated in 118 Patients Affected By Hereditary Hemolytic Anemias

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

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

25-Oh Vitamin D, Vitamin D Receptor and Immunomodulatory Cytokines Serum Levels in Patients with Autoimmune Citopenias: Correlation with Hematologic Parameters and Clinical Severity

A Case of Congenital Red Cell Pyruvate Kinase Deficiency Associated with Hereditary Spherocytosis

Molecular Analysis of the SEC23B Gene In Patients Affected by Congenital Dyserythropoietic Anemia Type II (CDAII)

Clinical and Haematologic Features of 300 Patients Affected by Hereditary Spherocytosis as a Function of the Type of the Membrane Protein Defect.

Coexistence of Congenital Red Cell Pyruvate Kinase Deficiency and Hereditary Stomatocytosis.

Presence of JAK2 V617F Mutation in Peripheral Blood of Blood Donors with Upper-Limit Hematocrit and Platelet Values.

Analysis of JAK2 V167F Mutation in Myelodysplastic Syndromes.

Recessive Congenital Methaemoglobinaemia: Three New Mutations in the NADH-Cytochrome b5 Reductase Gene.

Early-Polycythemia Vera (e-PV) with Thrombocytosis: Clinical Characteristics, Morphological Features and JAK2 V617F Mutational Status Contributing to the Differential Diagnosis with Essential Thrombocythemia.

Immunological, Molecular and Cytokine Changes after Reduced Intensity Bone Marrow Transplantation for PNH: A 2 Years Follow-Up.

A Case of Chronic Myelomonocytic Leukemia Progressing from Dysplastic to Proliferative Phenotype after Acquisition of a RAS Point Mutation.

Pyrimidine 5′ Nucleotidase Deficiency: Clinical and Molecular Characterization of Two New Italian Patients.

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