Page 1 | Search Results | Blood | American Society of Hematology

1-14 of 14

Sort by

Sort Order Select

Journal Articles

Correction of the Energetic Defects in Pyruvate Kinase Deficiency through Genome Editing in Hematopoietic Stem and Progenitor Cells

Sara Fañanas-Baquero, Oscar Quintana Bustamante, PhD, Daniel P. Dever, PhD, Omaira Alberquilla, Rebeca Sanchez-Dominguez, PhD, Joab Camarena, BS, Rolf Turk, José Luis López Lorenzo, MD, Paola Bianchi, BSc, PhD, Mark Behlke, MD PhD, Juan A Bueren, PhD, Matt Porteus, MD PhD, José C Segovia, PhD

Blood (2020) 136 (Supplement 1): 29.

https://doi.org/10.1182/blood-2020-139117

Published: 2020

Journal Articles

Baseline Characteristics of Patients in Peak: A Global, Longitudinal Registry of Patients with Pyruvate Kinase Deficiency

Rachael F. Grace, MD, Audra Boscoe, PhD, Chris Bowden, MD, Bertil Glader, MD PhD, Hitoshi Kanno, MDPhD, D. Mark Layton, MB BS, Eduard van Beers, MD PhD, Joan-Lluis Vives Corrons, MD PhD, Yan Yan, MS, Paola Bianchi, BSc, PhD

Blood (2020) 136 (Supplement 1): 39–40.

https://doi.org/10.1182/blood-2020-136634

Published: 2020

Journal Articles

Evans' Syndrome in Adults: An Observational Multicentre Study

Bruno Fattizzo, MD, Marc Michel, Juri Alessandro Giannotta, MD, Dennis Lund Hansen, Montserrat Lopez Rubio, PhD, Emanuele Sutto, MD, Nicola Bianchetti, MD, Andrea Patriarca, MD, Silvia Cantoni, Maria Eva Mingot-Castellano, PhD MD, Vickie McDonald, MD, Marco Capecchi, MD, Josephine M.I Vos, Paola Bianchi, BSc, PhD, Nicola Vianelli, MD, Frederick Chen, MD, Henrik Frederiksen, MD PhD Prof, Tomas Jose Gonzalez-Lopez, Wilma Barcellini

Blood (2020) 136 (Supplement 1): 27–28.

https://doi.org/10.1182/blood-2020-136900

Published: 2020

Journal Articles

COVID-19 Infection in Patients with Paroxysmal Nocturnal Hemoglobinuria in Italy

Wilma Barcellini, Bruno Fattizzo, MD, Luisa Quattrocchi, Juri Alessandro Giannotta, MD, Semra Aydin, MD PhD, Federica Barone, MD, Cecilia Carbone, MD, Eloise Beggiato, Paola Bianchi, BSc, PhD, Eros Di Bona, MD, Rosario Notaro, MD, Anna Paola Iori

Blood (2020) 136 (Supplement 1): 36–37.

https://doi.org/10.1182/blood-2020-138721

Published: 2020

Journal Articles

An Ongoing Global, Longitudinal, Observational Study of Patients with Pyruvate Kinase Deficiency: The PEAK Registry

Rachael F. Grace, MD, Paola Bianchi, BSc, PhD, Bertil Glader, MD PhD, Andreas Glenthøj, MD PhD, Bryan Jones, PhD, Hitoshi Kanno, MD PhD, Kevin H. M. Kuo, MDMSc,FRCPC, D. Mark Layton, MB ChB, Eduard J. van Beers, MD PhD, Joan-Lluis Vives Corrons, MD PhD, Tu Xu, MS, PhD

Blood (2019) 134 (Supplement_1): 2223.

https://doi.org/10.1182/blood-2019-123059

Published: 2019

Journal Articles

Integrating Clinical, Morphological, and Molecular Data to Assess Prognosis in Patients with Primary Myelofibrosis: A Practical Approach

Alessandra Iurlo, Elena Maria Elli, MD, Francesca Palandri, PhD MD, Daniele Cattaneo, MD, Anna Bossi, Ivan Cortinovis, Cristina Bucelli, MD, Nicola Orofino, MD, Filippo Brioschi, MD, Giuseppe Auteri, MD, Paola Bianchi, BSc, PhD, Sonia Fabris, BSc, Giuseppe Isimbaldi, MD, Elena Sabattini, Agostino Cortelezzi, MD, Umberto Gianelli, MD

Blood (2018) 132 (Supplement 1): 1766.

https://doi.org/10.1182/blood-2018-99-114933

Published: 2018

Journal Articles

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

Kimberly Lezon-Geyda, PhD, Melissa J. Rose, DO, Melissa A. McNaull, MD, Christine M. Knoll, MD, Hassan M. Yaish, MD, Yves D. Pastore, MD, Elisa Fermi, Bertil Glader, MD, Paola Bianchi, BSc, PhD, Rachael F. Grace, MD, Patrick G. Gallagher, MD

Blood (2018) 132 (Supplement 1): 3607.

https://doi.org/10.1182/blood-2018-99-117805

Published: 2018

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

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

Spleen Stiffness Measurement By Transient Elastography As a Predictor of Bone Marrow Fibrosis in Primary Myelofibrosis Patients

Alessandra Iurlo, MD PhD, Daniele Cattaneo, MD, Mariangela Giunta, MD, Umberto Gianelli, MD, Giovanni Casazza, MD, Mirella Fraquelli, MD PhD, Nicola Orofino, MD, Cristina Bucelli, MD, Paola Bianchi, BSC, PhD, Claudia Augello, BSC, PhD, Silvano Bosari, MD, Massimo Colombo, MD, Agostino Cortelezzi, MD

Blood (2014) 124 (21): 1825.

https://doi.org/10.1182/blood.V124.21.1825.1825

Published: 2014

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

NARROW

Correction of the Energetic Defects in Pyruvate Kinase Deficiency through Genome Editing in Hematopoietic Stem and Progenitor Cells

Baseline Characteristics of Patients in Peak: A Global, Longitudinal Registry of Patients with Pyruvate Kinase Deficiency

Evans' Syndrome in Adults: An Observational Multicentre Study

COVID-19 Infection in Patients with Paroxysmal Nocturnal Hemoglobinuria in Italy

An Ongoing Global, Longitudinal, Observational Study of Patients with Pyruvate Kinase Deficiency: The PEAK Registry

Integrating Clinical, Morphological, and Molecular Data to Assess Prognosis in Patients with Primary Myelofibrosis: A Practical Approach

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

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

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

Spleen Stiffness Measurement By Transient Elastography As a Predictor of Bone Marrow Fibrosis in Primary Myelofibrosis Patients

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

Email alerts

ASH Publications

American Society of Hematology

Email alerts

ASH Publications

American Society of Hematology

This Feature Is Available To Subscribers Only