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Journal Articles

Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders

Blood (2021) 137 (26): 3660–3669.

https://doi.org/10.1182/blood.2020009810

Published: 2021

Includes: Supplemental data

Journal Articles

Evaluation of Clinical Usefulness of Monocyte Gating Using CD14 and CD64 for Detecting PNH Clone By Flow Cytometry

Woo Jae Kwoun, MD, Jeong-Yeal Ahn, MD, Ja Young Seo, MD, Jae Hoon Lee, MD PhD, Hawk Kim, MD PhD, Jinny Park, MD PhD, Kwai Han Yoo, MD, Sung-Ran Cho, MD, Hye Ryoun Kim, MD

Blood (2018) 132 (Supplement 1): 4947.

https://doi.org/10.1182/blood-2018-99-111468

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

Paroxysmal Nocturnal Hemoglobinuria Caused By Pigt Mutations; Atypical PNH

Yoshiko Murakami, MDPhD, Michi Kawamoto, MD, Norimitsu Inoue, MD PhD, Makiko Osato, DS, Shogo Murata, MD PhD, Sho Murase, MD, Hajime Yoshimura, MD, Yasutaka Ueda, MD PhD, Jun-Ichi Nishimura, MD PhD, Yuzuru Kanakura, MD PhD, Nobuo Kohara, MD, Taroh Kinoshita, PhD

Blood (2016) 128 (22): 2450.

https://doi.org/10.1182/blood.V128.22.2450.2450

Published: 2016

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

Inherited GPI-Anchor Deficiencies Caused By The Hypomorphic Mutations In PIG A gene: Comparison To Paroxysmal Nocturnal Hemogrobinuria

Yoshiko Murakami, MD, PhD, Mitsuhiro Kato, Hirotomo Saitsu, Kenjiro Kikuchi, Shuei Watanabe, Mizue Iai, Ryuki Matsuura, Rumiko Takayama, Chihiro Ohba, Shin-ichiro Hamano, Hitoshi Osaka, Kiyoshi Hayasaka, Naomichi Matsumoto, Taroh Kinoshita, PhD

Blood (2013) 122 (21): 3701.

https://doi.org/10.1182/blood.V122.21.3701.3701

Published: 2013

Journal Articles

Glucose Phosphate Isomerase Deficiency In 2 Patients With Novel Mutations Presenting As Severe Neurologic Abnormalities and Transfusion Dependent Hemolytic Anemia

Mammen Puliyel, M.B., B.S., Patrick G. Gallagher, MD, Vasilios Berdoukas, MBBS, Bertil Glader, MD, PhD, Thomas Coates, MD

Blood (2013) 122 (21): 947.

https://doi.org/10.1182/blood.V122.21.947.947

Published: 2013

Journal Articles

Alemtuzumab Treatment Can Affect CD52 Positive As Well As CD52 Negative GPI-Deficient, Sezary Cells Allowing Long-Term Disease Control

C.J.M. Halkes, MD, PhD, I Jedema, PhD, H.M. van Egmond, L van der Fits, PhD, J.H.F. Falkenburg, MD, PhD, MH Vermeer, MD, PhD

Blood (2011) 118 (21): 2491.

https://doi.org/10.1182/blood.V118.21.2491.2491

Published: 2011

Journal Articles

Release of Alkaline Phosphatase Caused by PIGV Mutations In Patients with Hyperphosphatasia-Mental Retardation Syndrome (HPMR), a Recently Found Second Inherited GPI Anchor Deficiency.

Yoshiko Murakami, MD, PhD, Peter M Krawitz, MD, PhD, Peter N Robinson, MD, PhD, Stefan Mundlos, MD, PhD, Yusuke Maeda, MD, PhD, Taroh Kinoshita, PhD

Blood (2010) 116 (21): 2031.

https://doi.org/10.1182/blood.V116.21.2031.2031

Published: 2010

Journal Articles

Reduced Hematopoietic Stem Cell Function in a Mouse Model with Conditional Pig-a Gene Deletion.

Valeria Visconte, PhD, Regis Peffault de Latour, MD PhD, Rodrigo T. Calado, MD PhD, Marie Desierto, Jichun Chen, PhD, Neal S Young, MD

Blood (2009) 114 (22): 2428.

https://doi.org/10.1182/blood.V114.22.2428.2428

Published: 2009

Journal Articles

Alemtuzumab Shows Significant Efficacy in T-LGL Leukemia and Refractory Cases Are Due to GPI-Deficiency of LGL Clones.

Sanjay R. Mohan, MD, Michael Clemente, MS, Marcin Wlodarski, MD, PhD, Alan E. Lichtin, MD, Jaroslaw P. Maciejewski, MD, PhD

Blood (2008) 112 (11): 2038.

https://doi.org/10.1182/blood.V112.11.2038.2038

Published: 2008

Journal Articles

The Investigation of HMGA2 Dysregulation and Promoter Mutations in PIG-M in the Molecular Pathogenesis of Paroxysmal Nocturnal Haemoglobinuria (PNH).

Richard J. Kelly, MD, Reuben M. Tooze, PhD, Gina M. Doody, PhD, Stephen J. Richards, PhD, Peter Hillmen, PhD

Blood (2007) 110 (11): 3671.

https://doi.org/10.1182/blood.V110.11.3671.3671

Published: 2007

Journal Articles

Targeted Molecular Therapy for Inherited Glycosylphosphatidylinositol Deficiency.

A.M. Almeida, MD, Y. Murakami, PhD, A. Baker, MD, Y. Maeda, PhD, Irene Roberts, PhD, Taroh Kinoshita, PhD, D.M. Layton, MD, A. Karadimitris, PhD

Blood (2006) 108 (11): 487.

https://doi.org/10.1182/blood.V108.11.487.487

Published: 2006

Journal Articles

Defective Modification of Mannose Residues by Terminal Phosphoethanolamine Underlies Inherited GPI Deficiency.

A. M. Almeida, MD, P. Hillmen, MD, PhD, S. J. Richards, PhD, D. H. Crawford, PhD, A. Baker, MD, M. A. Ferguson, PhD, I. A. Roberts, MD, PhD, D. M. Layton, MD, PhD, A. Karadimitris, MD, PhD

Blood (2005) 106 (11): 128.

https://doi.org/10.1182/blood.V106.11.128.128

Published: 2005

Journal Articles

Three New Mutations of Glucose-6-Phosphate Isomerase Associated with Chronic Hemolytic Anemia.

Cristina Vercellati, Elisa Fermo, Anna Marcello, Mariagabriella Mariani, Paola Bianchi, Wilma Barcellini, Saverio Ladogana, Alessandro De Fanti, Alberto Zanella

Blood (2004) 104 (11): 3673.

https://doi.org/10.1182/blood.V104.11.3673.3673

Published: 2004

Journal Articles

Coagulation and fibrinolytic activities in 2 siblings with β 2 -glycoprotein I deficiency

Rie Takeuchi, Tatsuya Atsumi, Masahiro Ieko, Hiroyuki Takeya, Shinsuke Yasuda, Kenji Ichikawa, Akito Tsutsumi, Koji Suzuki, Takao Koike

Blood (2000) 96 (4): 1594–1595.

https://doi.org/10.1182/blood.V96.4.1594

Published: 2000

NARROW

Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders

Evaluation of Clinical Usefulness of Monocyte Gating Using CD14 and CD64 for Detecting PNH Clone By Flow Cytometry

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

Paroxysmal Nocturnal Hemoglobinuria Caused By Pigt Mutations; Atypical PNH

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

Inherited GPI-Anchor Deficiencies Caused By The Hypomorphic Mutations In PIG A gene: Comparison To Paroxysmal Nocturnal Hemogrobinuria

Glucose Phosphate Isomerase Deficiency In 2 Patients With Novel Mutations Presenting As Severe Neurologic Abnormalities and Transfusion Dependent Hemolytic Anemia

Alemtuzumab Treatment Can Affect CD52 Positive As Well As CD52 Negative GPI-Deficient, Sezary Cells Allowing Long-Term Disease Control

Release of Alkaline Phosphatase Caused by PIGV Mutations In Patients with Hyperphosphatasia-Mental Retardation Syndrome (HPMR), a Recently Found Second Inherited GPI Anchor Deficiency.

Reduced Hematopoietic Stem Cell Function in a Mouse Model with Conditional Pig-a Gene Deletion.

Alemtuzumab Shows Significant Efficacy in T-LGL Leukemia and Refractory Cases Are Due to GPI-Deficiency of LGL Clones.

The Investigation of HMGA2 Dysregulation and Promoter Mutations in PIG-M in the Molecular Pathogenesis of Paroxysmal Nocturnal Haemoglobinuria (PNH).

Targeted Molecular Therapy for Inherited Glycosylphosphatidylinositol Deficiency.

Defective Modification of Mannose Residues by Terminal Phosphoethanolamine Underlies Inherited GPI Deficiency.

Three New Mutations of Glucose-6-Phosphate Isomerase Associated with Chronic Hemolytic Anemia.

Coagulation and fibrinolytic activities in 2 siblings with β 2 -glycoprotein I deficiency

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American Society of Hematology

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American Society of Hematology

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