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Journal Articles

Multidisciplinary Study Based on Clinical, Electrophysiological and Psycological Evaluations Combined with Advanced Neuroimaging in Gaucher Disease Patients

Fiorina Giona, MD, Carlo Di Bonaventura, MD, Patrizia Mancini, MD, Gianmarco Tessari, Turchetta Rosaria, MD, Emanuele Cerulli Irelli, MD, Stefano Ferracuti, Teresa Di Giallonardo, MD, Rocco Plateroti, MD, Francesca Atturo, MD, Luisa Cardarelli, MD, Giovanna Palumbo, MD, Marcella Nebbioso, MD, Tiziana Di Pippo, Francesca Caramia, MD

Blood (2019) 134 (Supplement_1): 2185.

https://doi.org/10.1182/blood-2019-128143

Published: 2019

Journal Articles

Association between Sensorineural Hearing Loss and Homozygous Sickle Cell Anemia: A Meta-Analysis

Zachary Monroe Kiser, BS, PhD, Kristen A Clark, BA, Jane L Sumner, PhD, Gregory M Vercellotti, MD, M.Dawn Nelson, PhD

Blood (2019) 134 (Supplement_1): 3453.

https://doi.org/10.1182/blood-2019-127740

Published: 2019

Journal Articles

Clinical and Cytogenomic Features of Lymphoblastic Leukemia with Intrachromosomal Amplification of Chromosome 21 (iAMP21) in the Context of Constitutional Ring Chromosome 21

Tatiana Tvrdik, PhD MSc, Kristian T. Schafernak, MD MPH, Jeffrey R Jacobsen, MD, Reha Toydemir, MD PhD, Alexandra M Walsh, MD, Bo Hong, MD

Blood (2019) 134 (Supplement_1): 5208.

https://doi.org/10.1182/blood-2019-123766

Published: 2019

Journal Articles

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

Blood (2016) 127 (23): 2903–2914.

https://doi.org/10.1182/blood-2015-10-675629

Published: 2016

Includes: Supplemental data

Journal Articles

Linking Oxidative Stress to Cell Fate-Ipsc-Based Disease Modeling Identifies New Therapeutic Target in Reticular Dysgenesis

Katja G. Weinacht, MD PhD

Blood (2014) 124 (21): 227.

https://doi.org/10.1182/blood.V124.21.227.227

Published: 2014

Journal Articles

Hemophagocytic Lymphohistiocytosis Associated with NK Cell Dysfunction and Disseminated Herpesvirus Infection in GATA2 Deficiency/Monomac Syndrome

Michael A. Spinner, MD, Camila Odio, B.S., Katherine R. Calvo, MD, PhD, Amy P Hsu, B.A., Christa S. Zerbe, MD, Jennifer Cuellar-Rodriguez, MD, Jennifer P. Ker, MD, Charles J. Stoudenmire, MD, Oluwole Fadare, MD, Arunima Ghosh, MD,PhD, Emily M. Mace, PhD, Jordan S. Orange, MD, PhD, Dennis D. Hickstein, MD, Steven M. Holland, MD

Blood (2014) 124 (21): 4978.

https://doi.org/10.1182/blood.V124.21.4978.4978

Published: 2014

Journal Articles

Inherited Giant Platelet Disorder, Kashmiri Thrombocytopenia, a Common Syndrome Found in Srinagar, India

Felipe R Lorenzo, PhD, Tsewang Tashi, MD, Parvaiz Koul, MD, Nicola J Camp, PhD, Perumal Thiagarajan, MD, Josef T. Prchal, MD

Blood (2014) 124 (21): 4211.

https://doi.org/10.1182/blood.V124.21.4211.4211

Published: 2014

Journal Articles

Defect in B Cell Production Driven By GATA2 Mutation Results in Their Absolute Reduction and Mature Phenotype in Pediatric Patients

Michaela Novakova, Ales Janda, Marcin W Wlodarski, Martina Sukova, Vit Campr, Marketa Kubricanova Zaliova, Eva Fronkova, Elena Vodickova, Ondrej Zapletal, Jan Blatny, Katerina Lejhancova, Dagmar Pospisilova, Zdena Cerna, Tomas Kuhn, Zuzana Zemanova, Jan Trka, Ondrej Hrusak, Jan Stary, Ester Mejstrikova

Blood (2014) 124 (21): 2746.

https://doi.org/10.1182/blood.V124.21.2746.2746

Published: 2014

Journal Articles

Platelet Functional and Morphological Abnormalities In a Case Of Arthrogryposis, Renal Dysfunction and Cholestasis (ARC) Syndrome With a Novel Genetic Profile

Lesleigh S Abbott, MD, Ling Li, MD, Hilary Christensen, Fred Pluthero, PhD, Denisa Urban, Yigal Dror, MD, Walter H. Kahr, MD, PhD

Blood (2013) 122 (21): 3538.

https://doi.org/10.1182/blood.V122.21.3538.3538

Published: 2013

Journal Articles

Risk and Outcome of Non-Hodgkin Lymphoma Among Hodgkin Lymphoma Survivors: Analysis From the Surveillance, Epidemiology and End Results (SEER) Registry.

Ana Xavier, MD, Kent Armerson, MS, Elizabeth Hill, PhD, Luciano J Costa, MD, PhD

Blood (2012) 120 (21): 2639.

https://doi.org/10.1182/blood.V120.21.2639.2639

Published: 2012

Journal Articles

Long-Term Outcome in a Pediatric Patient with Atypical Hemolytic Uremic Syndrome (aHUS) with Sustained Eculizumab (ECU) Treatment

Ralph A. Gruppo, MD, Bradley P Dixon, MD

Blood (2011) 118 (21): 4682.

https://doi.org/10.1182/blood.V118.21.4682.4682

Published: 2011

Journal Articles

Characterization of AK2 Gene Function in Zebrafish Hematopoiesis

Alberto F Rissone, Guridevi Jayashree Jagadeesh, MS, Karen Simon, Kevin Bishop, Milton English, Trevor Blake, Robert M Nissen, Raman B. Sood, PhD, Fabio Candotti, MD

Blood (2011) 118 (21): 2185.

https://doi.org/10.1182/blood.V118.21.2185.2185

Published: 2011

Journal Articles

Treating Lymphoma with Curative Intent in HIV Positive Patients after the Advent of HAART: A Comparative Analysis with the HIV Negative Population

Alessandro Re, Alessandra Tucci, Salvatore Casari, Chiara Cattaneo, Graziella Cristini, Giampiero Carosi, Giuseppe Rossi

Blood (2008) 112 (11): 3603.

https://doi.org/10.1182/blood.V112.11.3603.3603

Published: 2008

Journal Articles

Human Adenylate Kinase 2 Deficiency Causes a Profound Haematopoietic Defect Associated with Sensorineural Deafness

Blood (2008) 112 (11): lba-2.

https://doi.org/10.1182/blood.V112.11.lba-2.lba-2

Published: 2008

Journal Articles

Glycocalyx Perturbation in Patients with Sickle Cell Disease: Association with Disease Morbidity.

Eduard J. Beers van, MD, Pearl Landburg, MD, Max Nieuwdorp, MD, Ashley L. Duits, MS, PhD, Hans Vink, MS, PhD, Ludo M. Evers, MS, PhD, Bart J. Biemond, MD, PhD

Blood (2006) 108 (11): 1204.

https://doi.org/10.1182/blood.V108.11.1204.1204

Published: 2006

Journal Articles

Systematic Evaluation of Sickle Cell-Related Organ Damage and Complications: Implications for Sickle Cell Disease Management.

Eduard J. Beers van, MD, Anna Giessen Van Der, Charlotte F.J. Tuijn Van, RN, John-john Schnog, MD, PhD, Bart J. Biemond, MD, PhD

Blood (2006) 108 (11): 3799.

https://doi.org/10.1182/blood.V108.11.3799.3799

Published: 2006

Journal Articles

Thiamine Deprivation Induces Reticulocytopenic Anemia in Slc19A2 Knockout Marrow: Evidence for Cell-Intrinsic Defect.

Maria Claudia Montefusco, PhD, Judith C. Fleming, PhD, Gretchen Chick, Ellis J. Neufeld, MD, PhD

Blood (2005) 106 (11): 3604.

https://doi.org/10.1182/blood.V106.11.3604.3604

Published: 2005

Journal Articles

CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin

Vanja Karamatic Crew, Nicholas Burton, Alexander Kagan, Carole A. Green, Cyril Levene, Frances Flinter, R. Leo Brady, Geoff Daniels, David J. Anstee

Blood (2004) 104 (8): 2217–2223.

https://doi.org/10.1182/blood-2004-04-1512

Published: 2004

Journal Articles

Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome

Samuel Deutsch, Alexandra Rideau, Marie-Luce Bochaton-Piallat, Giuseppe Merla, Antoine Geinoz, Giulio Gabbiani, Torsten Schwede, Thomas Matthes, Stylianos E. Antonarakis, Photis Beris

Blood (2003) 102 (2): 529–534.

https://doi.org/10.1182/blood-2002-09-2783

Published: 2003

Journal Articles

Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13

Amos Toren, Galit Rozenfeld-Granot, Bianca Rocca, Charles J. Epstein, Ninette Amariglio, Ferdinando Laghi, Raffaele Landolfi, Frida Brok-Simoni, Lena E. Carlsson, Gideon Rechavi, Andreas Greinacher

Blood (2000) 96 (10): 3447–3451.

https://doi.org/10.1182/blood.V96.10.3447

Published: 2000

NARROW

Multidisciplinary Study Based on Clinical, Electrophysiological and Psycological Evaluations Combined with Advanced Neuroimaging in Gaucher Disease Patients

Association between Sensorineural Hearing Loss and Homozygous Sickle Cell Anemia: A Meta-Analysis

Clinical and Cytogenomic Features of Lymphoblastic Leukemia with Intrachromosomal Amplification of Chromosome 21 (iAMP21) in the Context of Constitutional Ring Chromosome 21

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

Linking Oxidative Stress to Cell Fate-Ipsc-Based Disease Modeling Identifies New Therapeutic Target in Reticular Dysgenesis

Hemophagocytic Lymphohistiocytosis Associated with NK Cell Dysfunction and Disseminated Herpesvirus Infection in GATA2 Deficiency/Monomac Syndrome

Inherited Giant Platelet Disorder, Kashmiri Thrombocytopenia, a Common Syndrome Found in Srinagar, India

Defect in B Cell Production Driven By GATA2 Mutation Results in Their Absolute Reduction and Mature Phenotype in Pediatric Patients

Platelet Functional and Morphological Abnormalities In a Case Of Arthrogryposis, Renal Dysfunction and Cholestasis (ARC) Syndrome With a Novel Genetic Profile

Risk and Outcome of Non-Hodgkin Lymphoma Among Hodgkin Lymphoma Survivors: Analysis From the Surveillance, Epidemiology and End Results (SEER) Registry.

Long-Term Outcome in a Pediatric Patient with Atypical Hemolytic Uremic Syndrome (aHUS) with Sustained Eculizumab (ECU) Treatment

Characterization of AK2 Gene Function in Zebrafish Hematopoiesis

Treating Lymphoma with Curative Intent in HIV Positive Patients after the Advent of HAART: A Comparative Analysis with the HIV Negative Population

Human Adenylate Kinase 2 Deficiency Causes a Profound Haematopoietic Defect Associated with Sensorineural Deafness

Glycocalyx Perturbation in Patients with Sickle Cell Disease: Association with Disease Morbidity.

Systematic Evaluation of Sickle Cell-Related Organ Damage and Complications: Implications for Sickle Cell Disease Management.

Thiamine Deprivation Induces Reticulocytopenic Anemia in Slc19A2 Knockout Marrow: Evidence for Cell-Intrinsic Defect.

CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin

Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome

Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13

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American Society of Hematology

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ASH Publications

American Society of Hematology

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