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Journal Articles

Not so Rare, Not so Mild Disease: Defects of Flippase Activity Due to ATP11C Mutations. Description of Three New Cases

Elisa Fermo, Elena Trombetta, Anna Marcello, Cristina Vercellati, Giulia Maria Ferrari, Anna Zaninoni, Valentina Brancaleoni, Marta Tornese, Wilma Barcellini, Tommaso Casini, Paola Consuelo Corti, Paola Bianchi

Blood (2024) 144 (Supplement 1): 2465.

https://doi.org/10.1182/blood-2024-204922

Published: 2024

Journal Articles

Toward the Creation of Diagnostic Algorithms for Congenital Hemolytic Anemia Using Advanced Parameters from Modern Hematology Analyzers

Paola Bianchi, Azita Sharif, Cristina Vercellati, Elisa Fermo, Maria Laura Chiaretto, Anna Marcello, Anna Zaninoni, Nadia Mirra, Simona Torricelli, Virna De Zordi, Stefania Bottalico, Francesco Passamonti, Wilma Barcellini, Matteo Vidali, Anna Chiara Migliorini

Blood (2024) 144 (Supplement 1): 1086.

https://doi.org/10.1182/blood-2024-203099

Published: 2024

Journal Articles

Biochemical and Metabolomic Analysis of Glycolytic Activity in Red Blood Cells from Low-Risk Myelodysplastic Syndromes (LR-MDS) Patients and in-Vitro Effect of the Pyruvate Kinase Activator AG-946

Bruno Fattizzo, Cristina Vercellati, Anna Marcello, Parija Patel, Megan Wind-Rotolo, Loredana Pettine, Marcella Bonanomi, Daniela Gaglio, Claudia Leoni, Elisa Fermo, Paola Bianchi, Anna Zaninoni, Wilma Barcellini

Blood (2023) 142 (Supplement 1): 6456.

https://doi.org/10.1182/blood-2023-188316

Published: 2023

Journal Articles

Regional Genetic Heterogeneity Among Patients with Pyruvate Kinase Deficiency

Paola Bianchi, Elisa Fermo, Kevin H.M. Kuo, Dagmar Pospíšilová, Andreas Glenthoej, Carl Lander, Eduard J. Van Beers, Bertil Glader, Joan-Lluis Vives Corrons, Stefan W Eber, Yan Yan, Bryan McGee, Janet H Ford, Saliha Yilmaz, Rachael F. Grace

Blood (2023) 142 (Supplement 1): 5203.

https://doi.org/10.1182/blood-2023-181834

Published: 2023

Journal Articles

A Mild DBA Phenotype Associated with a Non-Canonical Splice Site Mutation in RPS26

Elisa Fermo, Marta la Vecchia, Alberto Zanella, Irma Dianzani, Paola Bianchi

Blood (2023) 142 (Supplement 1): 5673.

https://doi.org/10.1182/blood-2023-180118

Published: 2023

Journal Articles

Evaluation of Red Blood Cell Metabolism in Patients with Low-Risk Myelodysplastic Syndrome (LR-MDS): A Proof-of-Concept Study

Bruno Fattizzo, Cristina Vercellati, Anna Marcello, Marta Bortolotti, Anna Zaninoni, Elisa Fermo, Paola Bianchi, Wilma Barcellini

Blood (2022) 140 (Supplement 1): 4016–4017.

https://doi.org/10.1182/blood-2022-159938

Published: 2022

Journal Articles

Evaluation of the Main Regulators of Systemic Iron Homeostasis in Pyruvate Kinase Deficiency

Anna Zaninoni, Roberta Russo, Roberta Marra, Elisa Fermo, Immacolata Andolfo, Anna Paola Marcello, Dario Consonni, Barbara Eleni Rosato, Stefania Martone, Bruno Fattizzo, Wilma Barcellini, Achille Iolascon, Paola Bianchi

Blood (2021) 138 (Supplement 1): 1993.

https://doi.org/10.1182/blood-2021-151635

Published: 2021

Journal Articles

Single Nucleotide Polymorphisms of Cytokine Genes in Warm Autoimmune Hemolytic Anemias: Relationship with Clinical and Hematological Parameters

Anna Zaninoni, Bruno Fattizzo, Juri Alessandro Giannotta, Elisa Fermo, Nicola Cecchi, Paola Bianchi, Wilma Barcellini

Blood (2021) 138 (Supplement 1): 4142.

https://doi.org/10.1182/blood-2021-146006

Published: 2021

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

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

Blood (2018) 131 (20): 2183–2192.

https://doi.org/10.1182/blood-2017-10-810796

Published: 2018

Includes: Supplemental data

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

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

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

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 characterization of the First Italian Variant of Phosphoglycerate Kinase Deficiency

Paola Bianchi, M Sc, Elisa Fermo, M Sc, Luana Mandarà, M.D., Cristina Vercellati, PhD, Anna Paola Maria Luisa Marcello, PhD, Agostino Cortelezzi, MD, Wilma Barcellini, MD, Alberto Zanella, M.D.

Blood (2011) 118 (21): 5270.

https://doi.org/10.1182/blood.V118.21.5270.5270

Published: 2011

NARROW

Not so Rare, Not so Mild Disease: Defects of Flippase Activity Due to ATP11C Mutations. Description of Three New Cases

Toward the Creation of Diagnostic Algorithms for Congenital Hemolytic Anemia Using Advanced Parameters from Modern Hematology Analyzers

Biochemical and Metabolomic Analysis of Glycolytic Activity in Red Blood Cells from Low-Risk Myelodysplastic Syndromes (LR-MDS) Patients and in-Vitro Effect of the Pyruvate Kinase Activator AG-946

Regional Genetic Heterogeneity Among Patients with Pyruvate Kinase Deficiency

A Mild DBA Phenotype Associated with a Non-Canonical Splice Site Mutation in RPS26

Evaluation of Red Blood Cell Metabolism in Patients with Low-Risk Myelodysplastic Syndrome (LR-MDS): A Proof-of-Concept Study

Evaluation of the Main Regulators of Systemic Iron Homeostasis in Pyruvate Kinase Deficiency

Single Nucleotide Polymorphisms of Cytokine Genes in Warm Autoimmune Hemolytic Anemias: Relationship with Clinical and Hematological Parameters

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

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

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

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

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

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 characterization of the First Italian Variant of Phosphoglycerate Kinase Deficiency

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American Society of Hematology

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American Society of Hematology

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