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Journal Articles

Spectrum of Genetic Defects and Phenotype-Genotype Correlation in Dyserythropoietic Anemias: Bench to Bedside Approach in the Indian Scenario

Reena Das, MD, Manu Jamwal, PhD, Anu Aggarwal, PhD, Prashant Sharma, DM, Man Updesh Singh Sachdeva, MD, Deepak Bansal, MD, Sreejesh Sreedharanunni, DM, Narender Kumar, MD, Shano Naseem, MD, Jasmina Ahluwalia, MD, Neelam Varma, MD, Pankaj Malhotra, MD, Arindam Maitra, PhD

Blood (2019) 134 (Supplement_1): 950.

https://doi.org/10.1182/blood-2019-126453

Published: 2019

Journal Articles

The WASP P460S Mutation Causes a New Phenotype of WASP Mutations Related Disorder: X-Linked Pancytopenia

Yunjing Zheng, MD, Shuiyan Wu, Xiaoliang Yu, Meng Wu, Qin Lu, Sudan He, Shaoyan Hu, MD PhD

Blood (2017) 130 (Supplement 1): 1044.

https://doi.org/10.1182/blood.V130.Suppl_1.1044.1044

Published: 2017

Journal Articles

Wiskott-Aldrich Syndrome: A Retrospective Study on 575 Patients Analyzing the Impact of Splenectomy, Stem Cell Transplantation, or No Definitive Treatment on Frequency of Disease-Related Complications and Physician-Perceived Quality of Life

Jannik S Glasmacher, Tanja C Bittner, MD, Hans D Ochs, MD, Alessandro Aiuti, MD PhD, Peter D Arkwright, MD, Dmitry Balashov, Uta Behrends, Bernd H. Belohradsky, MD, Elisa Bertoni, David K. Buchbinder, MD MSHS, Michael Browning, Anastasiia Bondarenko, Fabio Candotti, MD, Alessandro Cattoni, Liudmyla Chernyshova, Joseph H. Chewning, MD, Peter Ciznar, Theresa Cole, Beatriz T Costa-Carvalho, Wojciech Czogala, Gregor Dueckers, David M Edgar, Fatih Erbey, Anders Fasth, MD PhD, Renata Formankova, MD PhD, Tomas Freiberger, Eleonora Gambineri, Andrew Gennery, MD, Frederick D Goldman, MD, Luis I Gonzalez-Granado, Tiago N Gulmaraes, David Hagin, MD PhD, Fabian Hauck, MD PhD, Tarja Heiskanen-Kosma, Manfred Hoenig, MD, Hanna Juntti, Hirokazu Kanegane, Leena Kainulainen, Neslihan E Karaca, Sara S Kilic, Christoph Klein, MD PhD, Sylwia Koltan, Irina Kondratenko, Dawei Liu, MD, Susanne Matthes, MD, Juliana T L Mazzucchelli, Isabelle Meyts, Siraj Misbah, Zohreh Nademi, Gulnara Nasrullayeva, Lucia D Notarangelo, Pere Soler-Palacin, Olga Pashchenko, Srdjan Pasic, Isabelle Pellier, MD, Claudio Pignata, Camilla Roepstorff, Catharina Schuetz, Ansgar S Schulz, MD PhD Prof., Gesmar R S Segundo, Anna Shcherbina, Joanne Smart, Robert A. Sokolic, MD, Polina Stepensky, MD, Troy Torgerson, MD PhD, Svetlana Vakhlyarskaya, Joris van Montfrans, MD PhD, Kim Vettenranta, MD PD, Beata Wolska-Kusnierz, Xiaodong Zhao, John B Ziegler, Xuan Zhang, Michael H. Albert, MD

Blood (2016) 128 (22): 366.

https://doi.org/10.1182/blood.V128.22.366.366

Published: 2016

Journal Articles

Outcomes of Referrals for Mild and Moderate Thrombocytopenia

Charles Schlappi, MD, David McCall, MD, Prasannalaxmi Palabindela, MBBS, Christy Bemrich Stolz, MDMSPH, Lee Hilliard, MD, Jeffrey D. Lebensburger, DO

Blood (2015) 126 (23): 41.

https://doi.org/10.1182/blood.V126.23.41.41

Published: 2015

Journal Articles

Effects of eltrombopag on platelet count and platelet activation in Wiskott-Aldrich syndrome/X-linked thrombocytopenia

Anja J. Gerrits, Emily A. Leven, Andrew L. Frelinger, III, Sophie L. Brigstocke, Michelle A. Berny-Lang, W. Beau Mitchell, Shoshana Revel-Vilk, Hannah Tamary, Sabrina L. Carmichael, Marc R. Barnard, Alan D. Michelson, James B. Bussel

Blood (2015) 126 (11): 1367–1378.

https://doi.org/10.1182/blood-2014-09-602573

Published: 2015

Journal Articles

Splenectomy in a Child of X-Linked Thrombocytopenia with Thalassemia and Bone Marrow Fibrosis : Hemoglobin and Platelet Count Were Improved

Yang Wan, Xiaofan Zhu, Xiaojuan Chen, Wenbin An, Peihong Zhang, Yingchi Zhang, Ye Guo, MD

Blood (2014) 124 (21): 1367.

https://doi.org/10.1182/blood.V124.21.1367.1367

Published: 2014

Journal Articles

Disruption of hSWI/SNF complexes in T cells by WAS mutations distinguishes X-linked thrombocytopenia from Wiskott-Aldrich syndrome

Koustav Sarkar, Sanjoy Sadhukhan, Seong-Su Han, Yatin M. Vyas

Blood (2014) 124 (23): 3409–3419.

https://doi.org/10.1182/blood-2014-07-587642

Published: 2014

Includes: Supplemental data

Journal Articles

Effects Of Eltrombopag On Thrombocytopenia, Platelet Function and Bleeding In Patients With Wiskott-Aldrich Syndrome/X-Linked Thrombocytopenia

Anja J Gerrits, PhD, Emily Leven, Andrew L. Frelinger, III, PhD, Michelle A. Berny-Lang, PhD, Hannah Tamary, MD, Shoshana Revel-Vilk, MD, MSc, Sabrina L. Carmichael, BS, W. Beau Mitchell, MD, Alan D. Michelson, MD, James B Bussel, MD

Blood (2013) 122 (21): 3536.

https://doi.org/10.1182/blood.V122.21.3536.3536

Published: 2013

Journal Articles

Application of a Diagnostic Algorithm for Inherited Thrombocytopenia Patients in the Setting of a Developing Country

Ana C Glembotsky, Rosana F Marta, Ph.D, Yesica R Espasandin, Nora P Goette, Ph.D, Fernando Negro, Noris Patrizia, MD, Anna Savoia, PhD, Alessandro Pecci, MD, Carlo Luigi Balduini, MD, Felisa C. Molinas, MD, PhD, Paula G Heller, M.D., Ph.D

Blood (2011) 118 (21): 1163.

https://doi.org/10.1182/blood.V118.21.1163.1163

Published: 2011

Journal Articles

Platelet Function and Response to Thrombopoietin Mimetics In Wiskott-Aldrich Syndrome/X-Linked Thrombocytopenia.

James B. Bussel, MD, Andrew L Frelinger, III, PhD, William B Mitchell, MD, Mariana P Pinheiro, MD, Marc R Barnard, MS, Michael Lampa, BS, Bethan Psaila, MD, PhD, Nayla Boulad, BA, Hannah Tamary, MD, Alan D. Michelson, MD

Blood (2010) 116 (21): 1429.

https://doi.org/10.1182/blood.V116.21.1429.1429

Published: 2010

Journal Articles

X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options

Blood (2010) 115 (16): 3231–3238.

https://doi.org/10.1182/blood-2009-09-239087

Published: 2010

Includes: Supplemental data

Journal Articles

Spherocytic Hemolytic Anemia Caused by Disruption of GATA1-FOG1 Interaction.

Ritsuko Shimizu, Atsushi Hasegawa, Masayuki Yamamoto, MD, PhD

Blood (2009) 114 (22): 775.

https://doi.org/10.1182/blood.V114.22.775.775

Published: 2009

Journal Articles

GATA-1 Mutation R216Q: Increased Bone Marrow Angiogenesis and Reticulin Fibrosis in X-Linked Thrombocytopenia with Thalassemia Trait (XLTT).

Eva Zetterberg, Lovisa Olson, Victoria Hahn-Strömberg, Jan Palmblad, Ian Jones, Maria Åström

Blood (2009) 114 (22): 5125.

https://doi.org/10.1182/blood.V114.22.5125.5125

Published: 2009

Journal Articles

Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome

Marita Bosticardo, Francesco Marangoni, Alessandro Aiuti, Anna Villa, Maria Grazia Roncarolo

Blood (2009) 113 (25): 6288–6295.

https://doi.org/10.1182/blood-2008-12-115253

Published: 2009

Journal Articles

Clinical Phenotype and Long Term Outcome in a Large Cohort of X-Linked Thrombocytopenia (XLT)/Mild Wiskott-Aldrich-Syndrome Patients

Blood (2008) 112 (11): 90.

https://doi.org/10.1182/blood.V112.11.90.90

Published: 2008

Journal Articles

X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation

Venée N. Tubman, Jason E. Levine, Dean R. Campagna, Rita Monahan-Earley, Ann M. Dvorak, Ellis J. Neufeld, Mark D. Fleming

Blood (2007) 109 (8): 3297–3299.

https://doi.org/10.1182/blood-2006-02-004101

Published: 2007

Includes: Supplemental data

Journal Articles

X-Linked Gray Platelet Syndrome Due to a GATA1 Arg216Gln Mutation.

Venée N. Tubman, Jason E. Levine, MD, Dean R. Campagna, Mark D. Fleming, MD, PhD, Ellis J. Neufeld, MD, PhD

Blood (2005) 106 (11): 5.

https://doi.org/10.1182/blood.V106.11.5.5

Published: 2005

Journal Articles

Transgenic rescue of GATA-1–deficient mice with GATA-1 lacking a FOG-1 association site phenocopies patients with X-linked thrombocytopenia

Ritsuko Shimizu, Kinuko Ohneda, James Douglas Engel, Cecelia D. Trainor, Masayuki Yamamoto

Blood (2004) 103 (7): 2560–2567.

https://doi.org/10.1182/blood-2003-07-2514

Published: 2004

Journal Articles

X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction

Channing Yu, Kathy K. Niakan, Mark Matsushita, George Stamatoyannopoulos, Stuart H. Orkin, Wendy H. Raskind

Blood (2002) 100 (6): 2040–2045.

https://doi.org/10.1182/blood-2002-02-0387

Published: 2002

Journal Articles

Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia

Lucia D. Notarangelo, Cinzia Mazza, Silvia Giliani, Chiara D'Aria, Francesca Gandellini, Chiara Ravelli, Maria Grazia Locatelli, David L. Nelson, Hans D. Ochs, Luigi D. Notarangelo

Blood (2002) 99 (6): 2268–2269.

https://doi.org/10.1182/blood.V99.6.2268

Published: 2002

NARROW

Spectrum of Genetic Defects and Phenotype-Genotype Correlation in Dyserythropoietic Anemias: Bench to Bedside Approach in the Indian Scenario

The WASP P460S Mutation Causes a New Phenotype of WASP Mutations Related Disorder: X-Linked Pancytopenia

Wiskott-Aldrich Syndrome: A Retrospective Study on 575 Patients Analyzing the Impact of Splenectomy, Stem Cell Transplantation, or No Definitive Treatment on Frequency of Disease-Related Complications and Physician-Perceived Quality of Life

Outcomes of Referrals for Mild and Moderate Thrombocytopenia

Effects of eltrombopag on platelet count and platelet activation in Wiskott-Aldrich syndrome/X-linked thrombocytopenia

Splenectomy in a Child of X-Linked Thrombocytopenia with Thalassemia and Bone Marrow Fibrosis : Hemoglobin and Platelet Count Were Improved

Disruption of hSWI/SNF complexes in T cells by WAS mutations distinguishes X-linked thrombocytopenia from Wiskott-Aldrich syndrome

Effects Of Eltrombopag On Thrombocytopenia, Platelet Function and Bleeding In Patients With Wiskott-Aldrich Syndrome/X-Linked Thrombocytopenia

Application of a Diagnostic Algorithm for Inherited Thrombocytopenia Patients in the Setting of a Developing Country

Platelet Function and Response to Thrombopoietin Mimetics In Wiskott-Aldrich Syndrome/X-Linked Thrombocytopenia.

X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options

Spherocytic Hemolytic Anemia Caused by Disruption of GATA1-FOG1 Interaction.

GATA-1 Mutation R216Q: Increased Bone Marrow Angiogenesis and Reticulin Fibrosis in X-Linked Thrombocytopenia with Thalassemia Trait (XLTT).

Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome

Clinical Phenotype and Long Term Outcome in a Large Cohort of X-Linked Thrombocytopenia (XLT)/Mild Wiskott-Aldrich-Syndrome Patients

X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation

X-Linked Gray Platelet Syndrome Due to a GATA1 Arg216Gln Mutation.

Transgenic rescue of GATA-1–deficient mice with GATA-1 lacking a FOG-1 association site phenocopies patients with X-linked thrombocytopenia

X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction

Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia

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American Society of Hematology

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ASH Publications

American Society of Hematology

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