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Journal Articles

RBCs prevent rapid PIEZO1 inactivation and expose slow deactivation as a mechanism of dehydrated hereditary stomatocytosis

Elizabeth L. Evans, Oleksandr V. Povstyan, Dario De Vecchis, Fraser Macrae, Laeticia Lichtenstein, T. Simon Futers, Gregory Parsonage, Neil E. Humphreys, Antony Adamson, Antreas C. Kalli, Melanie J. Ludlow, David J. Beech

Blood (2020) 136 (1): 140–144.

https://doi.org/10.1182/blood.2019004174

Published: 2020

Includes: Supplemental data

Journal Articles

Pharmacokinetics (PK), Pharmacodynamics (PD) and Safety Comparison of Deferasirox Formulations for Treatment Tailoring

Andrea Piolatto, MS, Carmen Gaglioti, MD, Filomena Longo, MD, Silvia De Francia, PhD, Sarah Allegra, PhD, Paola Berchialla, PhD, Antonio Piga

Blood (2019) 134 (Supplement_1): 3547.

https://doi.org/10.1182/blood-2019-122030

Published: 2019

Journal Articles

Deciphering the Causal Diagnosis of Hydrops Fetalis or Unexplained Fetal Anemia Using Targeted Next Generation and Exome Sequencing

Julie Galimand, Helene Bourdeau, Odile Fenneteau, Sophie Dreux, Nathalie Couque, PharmD, Severine Drunat, PharmD, PhD, Serge Pissard, PhD, Thierry Leblanc, MD, Anne Lambilliotte, MD, Catherine Thong Vanh, Caroline Alby, jelena-Hélène martinovic-Bouriel, Chloé Quelin, Mohandas Narla, DSc, Anne Cortey, Lydie Da Costa

Blood (2019) 134 (Supplement_1): 3519.

https://doi.org/10.1182/blood-2019-127432

Published: 2019

Journal Articles

Phenotype-Genotype Spectrum of Stomatocytic Disorders Encountered in India Using Next Generation Sequencing

Reena Das, MD, Manu Jamwal, MSc, Anu Aggarwal, MSc, Prashant Sharma, DM, Arindam Maitra, PhD, Deepak Bansal, MD, Pankaj Malhotra, MD

Blood (2018) 132 (Supplement 1): 2326.

https://doi.org/10.1182/blood-2018-99-114554

Published: 2018

Journal Articles

The Spectrum of Genetic Defects in Indian Patients with Rare Congenital Anemias: Next Generation Sequencing Based Approach

Manu Jamwal, MSc, Anu Aggarwal, MSc, Prashant Sharma, DM, Deepak Bansal, MD, Pankaj Malhotra, MD, Arindam Maitra, PhD, Reena Das, MD

Blood (2018) 132 (Supplement 1): 2328.

https://doi.org/10.1182/blood-2018-99-116092

Published: 2018

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

The Flow Cytometric Osmotic Fragility Test Is an Effective Screening Method for Dehydrated Hereditary Stomatocytosis

Taiju Utsugisawa, MD PhD, Takuya Iwasaki, MLS, Takako Aoki, MLS, Yoshio Okamoto, MLS, Takahiro Kawakami, MD PhD, Hiromi Ogura, MD PhD, Hitoshi Kanno, MDPhD

Blood (2017) 130 (Supplement 1): 929.

https://doi.org/10.1182/blood.V130.Suppl_1.929.929

Published: 2017

Journal Articles

Hypoxic Response-Dependent Genetic Regulation Revealed By Allele-Specific Expression in Reticulocytes of Chuvash Polycythemia

Xu Zhang, PhD, Jihyun Song, PhD, Binal N. Shah, PhD, Galina Miasnikova, MD, Adelina Sergueeva, MD, Josef T. Prchal, MD, Victor R. Gordeuk, MD

Blood (2017) 130 (Supplement 1): 926.

https://doi.org/10.1182/blood.V130.Suppl_1.926.926

Published: 2017

Journal Articles

Inherited and Acquired Modifiers of Iron Status May Dramatically Affect the Phenotypic Expression of Dehydrated Hereditary Stomatocytosis

Corentin Orvain, Lydie Da Costa, MD PhD, Richard van Wijk, PhD, Serge Pissard, MD PhD, Veronique Picard, MD PhD, Lamisse Mansour-Hendili, PharmD, Muriel Giansily-Blaizot, MD PhD, Guillaume Cartron, MD PhD, Jean-Francois Schved, MD PhD, Patricia Aguilar-Martinez, MD PhD

Blood (2016) 128 (22): 1281.

https://doi.org/10.1182/blood.V128.22.1281.1281

Published: 2016

Journal Articles

The Novel Missense Mutation of GATA1 Caused Red Cell Adenosine Deaminase Overproduction Associated with Congenital Hemolytic Anemia

Hiromi Ogura, MD PhD, Toshiyuki Yamamoto, MD PhD, Taiju Utsugisawa, MD PhD, Takako Aoki, MLS, Takuya Iwasaki, MLS, Yumiko Ondo, MLS, Takahiro Kawakami, MD PhD, Shinichiro Nakagawa, MD PhD, Shuichi Ozono, MD PhD, Hiroko Inada, MD PhD, Hitoshi Kanno, MD PhD

Blood (2016) 128 (22): 400.

https://doi.org/10.1182/blood.V128.22.400.400

Published: 2016

Journal Articles

Iron Overload and Cytokine Serum Levels in Congenital Hemolytic Anemias

Wilma Barcellini, Anna Ines Gregorini, MD, Giulia Soverini, Anna Zaninoni, Juri A Giannotta, Cristina Vercellati, Valeria Ferri, Paola Bianchi, Agostino Cortelezzi, MD, Maria Domenica Cappellini

Blood (2016) 128 (22): 2458.

https://doi.org/10.1182/blood.V128.22.2458.2458

Published: 2016

Journal Articles

Clinical Application of Massively Parallel Sequencing in the Diagnosis of Hereditary Hemolytic and Dyserythropoietic Anemias

Harry Lesmana, MD, Georgios E Christakopoulos, MD, Katie Giger Seu, PhD, Mary Risinger, PhD, Hatice Duzkale, MD MPH, PhD, Neha Dagaonkar, Kejian Zhang, MD, Theodosia A Kalfa, MD PhD

Blood (2016) 128 (22): 4746.

https://doi.org/10.1182/blood.V128.22.4746.4746

Published: 2016

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

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

Dehydrated hereditary stomatocytosis masquerading as MDS

Michele Paessler, Helge Hartung

Blood (2015) 125 (11): 1841.

https://doi.org/10.1182/blood-2014-11-612184

Published: 2015

Journal Articles

Anemia, Shortened Erythrocyte Lifespan and Stomatocytosis In a Flippase Mutant Mouse Strain

Coupland Lucy, Mehmet Yabas, Deborah Cromer, Markus Winterberg, Narcissus Teoh, Kiaran Kirk, Stefan Broer, Christopher Parish, Anselm Enders

Blood (2013) 122 (21): 2183.

https://doi.org/10.1182/blood.V122.21.2183.2183

Published: 2013

Journal Articles

Development Of a Comprehensive Rapid Next-Generation Sequencing Assay For The Diagnosis Of Inherited Hemolytic Anemia

Amber Hogart Begtrup, PhD, Neha Dagaonkar, Suvarnamala Pushkaran, M.Sc., Katie M. Giger, PhD, Ammar Husami, Diane Kissell, Clinton H. Joiner, MD, PhD, Mehdi Keddache, Ph.D., Kejian Zhang, M.D., M.B.A., Theodosia A. Kalfa, M.D., Ph.D.

Blood (2013) 122 (21): 949.

https://doi.org/10.1182/blood.V122.21.949.949

Published: 2013

Journal Articles

To shrink or not to shrink

Narla Mohandas

Blood (2013) 121 (19): 3783–3784.

https://doi.org/10.1182/blood-2013-04-491753

Published: 2013

Journal Articles

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1

Blood (2013) 121 (19): 3925–3935.

https://doi.org/10.1182/blood-2013-02-482489

Published: 2013

Includes: Supplemental data

Journal Articles

Sitosterolemia's stomatocytosis and macrothrombocytopenia

Anne T. Neff

Blood (2012) 120 (22): 4283.

https://doi.org/10.1182/blood-2012-06-429449

Published: 2012

NARROW

RBCs prevent rapid PIEZO1 inactivation and expose slow deactivation as a mechanism of dehydrated hereditary stomatocytosis

Pharmacokinetics (PK), Pharmacodynamics (PD) and Safety Comparison of Deferasirox Formulations for Treatment Tailoring

Deciphering the Causal Diagnosis of Hydrops Fetalis or Unexplained Fetal Anemia Using Targeted Next Generation and Exome Sequencing

Phenotype-Genotype Spectrum of Stomatocytic Disorders Encountered in India Using Next Generation Sequencing

The Spectrum of Genetic Defects in Indian Patients with Rare Congenital Anemias: Next Generation Sequencing Based Approach

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

The Flow Cytometric Osmotic Fragility Test Is an Effective Screening Method for Dehydrated Hereditary Stomatocytosis

Hypoxic Response-Dependent Genetic Regulation Revealed By Allele-Specific Expression in Reticulocytes of Chuvash Polycythemia

Inherited and Acquired Modifiers of Iron Status May Dramatically Affect the Phenotypic Expression of Dehydrated Hereditary Stomatocytosis

The Novel Missense Mutation of GATA1 Caused Red Cell Adenosine Deaminase Overproduction Associated with Congenital Hemolytic Anemia

Iron Overload and Cytokine Serum Levels in Congenital Hemolytic Anemias

Clinical Application of Massively Parallel Sequencing in the Diagnosis of Hereditary Hemolytic and Dyserythropoietic Anemias

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

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

Dehydrated hereditary stomatocytosis masquerading as MDS

Anemia, Shortened Erythrocyte Lifespan and Stomatocytosis In a Flippase Mutant Mouse Strain

Development Of a Comprehensive Rapid Next-Generation Sequencing Assay For The Diagnosis Of Inherited Hemolytic Anemia

To shrink or not to shrink

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1

Sitosterolemia's stomatocytosis and macrothrombocytopenia

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American Society of Hematology

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