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Journal Articles

Detection and Analysis of Gene Mutations in Patients with Glanzmann's Thrombasthenia

Boyang Sun, Donglei Zhang, Huiyuan Li, Xueqing Dou, Renchi Yang, MD

Blood (2019) 134 (Supplement_1): 2373.

https://doi.org/10.1182/blood-2019-129446

Published: 2019

Journal Articles

Platelet Function Disorder Is More Common Than Von Willebrand Disease in Women with Inherited Bleeding Disorders: Report from a Public Sector University in Pakistan

Nazli Hossain, Sr., Tahir S. Shamsi, MBBS,FRCPath, Arshi Naz, Sidra Abbas, Jr., Nazeer Khan

Blood (2019) 134 (Supplement_1): 4937.

https://doi.org/10.1182/blood-2019-126454

Published: 2019

Journal Articles

Management Algorithms for Gaucher Disease Type 1 in Saudi Arabia: A Consensus Result from a National Meeting

Ayman Alhejazi, MD, Abdul Kareem Almomen, MD, Ahmad M Tarawah, Ahmed M AlSuliman, Hussain H. Al Saeed, MBBS, MD, Mahsen AlSaleh, MD, Ohoud F Kashari, Marwan Elbagoury, MSc, Omar Hussein

Blood (2019) 134 (Supplement_1): 4864.

https://doi.org/10.1182/blood-2019-122822

Published: 2019

Journal Articles

Profile of Mutations Identified in the 3WINTERS-IPS Project on European & Iranian Patients with Previously Diagnosed Type 3 Von Willebrand Disease.

Luciano Baronciani, PhD, Flora Peyvandi, MD PhD, Anne Goodeve, PhD, Reinhard Schneppenheim, MDPhD, Zahra Badiee, Mohammad-Reza Baghaipour, Javier Battle, Erik Berntorp, MD PhD, Imre Bodó, MD PhD, Ulrich Budde, MD, Andrea Cairo, PhD, Giancarlo Castaman, Laura Crookes, Jeroen C.J. Eikenboom, MD, Peyman Eshghi, MD, Cosimo Ettorre, MD, Jenny Goudemand, MD PhD, Wolf Hassenpflug, Charles Richard Morris Hay, MDFRCP,FRCPath, Hamid Hoorfar, MD, Mehran Karimi, MD, Bijan Keikhaei, Riitta Lassila, MD PR, Frank W.G. Leebeek, MD PhD, Maria Fernanda Lopez Fernandez, Pier Mannuccio Mannucci, MD, Maria Gabriella Mazzucconi, MD, Massimo Morfini, MD, Nikolas Nikšić, Johannes Oldenburg, Florian Oyen, Rafael Parra Lòpez, Ian Peake, PhD, Gholamreza Toogeh, Alberto Tosetto, Marc Trossaert, Sayed Omid Reza Zekavat, MD, Eva M.K. Zetterberg, MD PhD, Augusto B Federici, MD

Blood (2018) 132 (Supplement 1): 1184.

https://doi.org/10.1182/blood-2018-99-114702

Published: 2018

Journal Articles

Variable Clinical Presentation of Congenital Thrombotic Thrombocytopenic Purpura in a Large Cohort of Patients Carrying a New Mutation in the CUB1 Domain of ADAMTS13 Gene

Oleg Pikovsky, Maram Arafat, MSc, Hilla Ovadia, PhD, Yoav Sharoni, PhD, Kayed Al-Athamen, MD, Bibi Kanengisser-Pines, MD, Anat Keren-Politansky, PhD, Itai Levi, MD, Ruti Parvari, PhD, Anat Rabinovich, MD

Blood (2018) 132 (Supplement 1): 1139.

https://doi.org/10.1182/blood-2018-99-111253

Published: 2018

Journal Articles

Ten New Cases of Hermansky-Pudlak Syndrome in the Iberian Peninsula: Identification of Novel Genetic Variants in HPS3, HPS4, HPS6 and DTNBP1 Associated with Significant Clinical Complications

Blood (2018) 132 (Supplement 1): 1147.

https://doi.org/10.1182/blood-2018-99-112968

Published: 2018

Journal Articles

Novel Hermanksky-Pudlak Syndrome Type 6 Missense Variant Associated with Subclinical Oculocutaneous Albinism and Mild Bleeding

Nagabhishek Moka, MD, Dong Chen, MD PhD, Chen Han, Kevin J O'Brien, ANP, Sara Haroutinian, Laryssa Huryn, Wendy Introne, MD, Ellen Macnamara, William A. Gahl, MD PhD, May Christine Malicdan, Bernadette Gochuico, MD, Koyamangalath Krishnan, MD

Blood (2018) 132 (Supplement 1): 1153.

https://doi.org/10.1182/blood-2018-99-109829

Published: 2018

Journal Articles

Epidemiological Study on β-Thalassemia in Algeria

Blood (2018) 132 (Supplement 1): 4902.

https://doi.org/10.1182/blood-2018-99-112812

Published: 2018

Journal Articles

Early Diagnosis of an Infant with Gaucher's Disease Type 3. Case Report

Adriana C. Bello, MD, Rossana Cortez

Blood (2018) 132 (Supplement 1): 4950.

https://doi.org/10.1182/blood-2018-99-110263

Published: 2018

Journal Articles

Metabolic Profile & Body Composition in Egyptian Children with Transfusion-Dependent Egyptian B-Thalassemia

Mohsen Saleh Elalfy, MD, Fatma Soliman Elsayed Ebeid, MD MRCPCH, El Gendy Yasmin, MD, Elghamry Islam, MD, Kalifa Amna, MBBCh

Blood (2018) 132 (Supplement 1): 4903.

https://doi.org/10.1182/blood-2018-99-114260

Published: 2018

Journal Articles

A Unique Case of Type 3 Von Willebrand Disease

Mamatha Mandava, MD, John Lazarchick, MD, Emily Curl, Shayla Bergmann, MD

Blood (2018) 132 (Supplement 1): 5031.

https://doi.org/10.1182/blood-2018-99-112976

Published: 2018

Journal Articles

Validation and Feasibility of a Point of Care Screening Test for Sickle Cell Disease in a Resource Constrained Setting — a New Frontier

Christopher Mwaniki Wanjiku, MBBS, Festus Njuguna, Fredrick Chite Asirwa, MBBChir, MD MS, Cyrus Njuguna, BSN, Chris Roberson, JD, MPH, Anne Greist, MD

Blood (2018) 132 (Supplement 1): 2229.

https://doi.org/10.1182/blood-2018-99-118876

Published: 2018

Journal Articles

Higher Incidence of Graft Rejection in Non-Sibling Fully Matched Related Donor Stem Cell Transplants for Thalassemia Major: A Cautionary Note

Anu Korula, MD DM, Fouzia N., DNB, DM, Anup Devasia, MD DM, Uday Prakash Kulkarni, MD DM, Kavitha M Lakshmi, MSc, Eunice Sindhuvi Edison, PhD, Aby Abraham, MD DM, Alok Srivastava, MD FRACP, FRCPA, Biju George, DM, Vikram Mathews, MD

Blood (2018) 132 (Supplement 1): 2178.

https://doi.org/10.1182/blood-2018-99-114454

Published: 2018

Journal Articles

Iliopsoas Hematoma in a Child with Factor XIII Deficiency

Goksel Leblebisatan, Yurdanur Kilinc, MD, Gilicoglu Elif, Mustafa Tekin, Hatice Ilgen Sasmaz, MD, Sureyya Soyupak

Blood (2017) 130 (Supplement 1): 4876.

https://doi.org/10.1182/blood.V130.Suppl_1.4876.4876

Published: 2017

Journal Articles

Retrospective Next Generation DNA Sequencing Analysis in Patients with Hemophagocytic Lymphohistiocytosis (HLH) Highlights Genetic Variants Associated with Secondary/Late-Onset Disease

Meeta Sunil, Chirantan Bose, Coral Karunakaran, Sunil Bhat, MBBS, MD, Nita Radhakrishnan, Srisha Rani, Sakthivel Murugan SM, Sharat Damodar, MBBS, MD DM, Ravi Gupta, Rohit Gupta, Mukesh Manharlal Desai, MBBS,MD, Arati Khanna-Gupta, PhD

Blood (2017) 130 (Supplement 1): 2286.

https://doi.org/10.1182/blood.V130.Suppl_1.2286.2286

Published: 2017

Journal Articles

Characterization and Genotype-Phenotype Correlation of Fanconi Anemia Patients in Israel

Orna Steinberg Shemer, MD MSc, Tracie Goldberg, MD, Joanne Yacobovich, MD, Carina Levin, MDPhD, Ariel Koren, MD, Shoshana Revel-Vilk, MD, Tal Ben-Ami, MD, Amir A Kuperman, MD, Vered Shkalim, MD, Amos Toren, MD PhD, Joseph Kapelushnik, Ayelet Ben-Barak, MD, Hagit Miskin, MD, Tanya Krasnov, MSc, Sharon Noy-Lotan, PhD, Orly Dgany, PhD, Hannah Tamary, MD

Blood (2017) 130 (Supplement 1): 1182.

https://doi.org/10.1182/blood.V130.Suppl_1.1182.1182

Published: 2017

Journal Articles

HIF1A Is a Critical Downstream Mediator for Hemophagocytic Lymphohistiocytosis

Blood (2017) 130 (Supplement 1): 3565.

https://doi.org/10.1182/blood.V130.Suppl_1.3565.3565

Published: 2017

Journal Articles

Polymorphonuclears Display a New Type of Abnormal Cytologic Granules (Chediak Higashi-Like) in a Very Rare Syndrome Linked to a Biallelic Defect of WDR81

Marion Eveillard, PharmD, PhD, Myriam Chevalier, Thomas Besnard, Benjamin Cogne, Alice Kuster, Stephane Bezieau, Marie C Bene, PharmSciD, PhD, Claire Beneteau

Blood (2016) 128 (22): 1331.

https://doi.org/10.1182/blood.V128.22.1331.1331

Published: 2016

Journal Articles

Discovery of the First Pathogenic Human EPO Mutation Provides Mechanistic Insight into Cytokine Signaling

Ah Ram Kim, PhD, Jacob C Ulirsch, Stephan Wilmes, Ekrem Unal, Ignacio Moraga, Musa Karakukcu, Daniel Yuan, Shideh Kazerounian, Namrata Gupta, Stacey B Gabriel, PhD, Eric S Lander, PhD, Turkan Patiroglu, Alper Ozcan, Mehmet Ozdemir, Christopher Garcia, Jacob Piehler, Hanna Gazda, MD PhD, Daryl Klein, Vijay G Sankaran, MD PhD

Blood (2016) 128 (22): 331.

https://doi.org/10.1182/blood.V128.22.331.331

Published: 2016

Journal Articles

Turkish National Severe Congenital Neutropenia Registry

Blood (2016) 128 (22): 4916.

https://doi.org/10.1182/blood.V128.22.4916.4916

Published: 2016

NARROW

Detection and Analysis of Gene Mutations in Patients with Glanzmann's Thrombasthenia

Platelet Function Disorder Is More Common Than Von Willebrand Disease in Women with Inherited Bleeding Disorders: Report from a Public Sector University in Pakistan

Management Algorithms for Gaucher Disease Type 1 in Saudi Arabia: A Consensus Result from a National Meeting

Profile of Mutations Identified in the 3WINTERS-IPS Project on European & Iranian Patients with Previously Diagnosed Type 3 Von Willebrand Disease.

Variable Clinical Presentation of Congenital Thrombotic Thrombocytopenic Purpura in a Large Cohort of Patients Carrying a New Mutation in the CUB1 Domain of ADAMTS13 Gene

Ten New Cases of Hermansky-Pudlak Syndrome in the Iberian Peninsula: Identification of Novel Genetic Variants in HPS3, HPS4, HPS6 and DTNBP1 Associated with Significant Clinical Complications

Novel Hermanksky-Pudlak Syndrome Type 6 Missense Variant Associated with Subclinical Oculocutaneous Albinism and Mild Bleeding

Epidemiological Study on β-Thalassemia in Algeria

Early Diagnosis of an Infant with Gaucher's Disease Type 3. Case Report

Metabolic Profile & Body Composition in Egyptian Children with Transfusion-Dependent Egyptian B-Thalassemia

A Unique Case of Type 3 Von Willebrand Disease

Validation and Feasibility of a Point of Care Screening Test for Sickle Cell Disease in a Resource Constrained Setting — a New Frontier

Higher Incidence of Graft Rejection in Non-Sibling Fully Matched Related Donor Stem Cell Transplants for Thalassemia Major: A Cautionary Note

Iliopsoas Hematoma in a Child with Factor XIII Deficiency

Retrospective Next Generation DNA Sequencing Analysis in Patients with Hemophagocytic Lymphohistiocytosis (HLH) Highlights Genetic Variants Associated with Secondary/Late-Onset Disease

Characterization and Genotype-Phenotype Correlation of Fanconi Anemia Patients in Israel

HIF1A Is a Critical Downstream Mediator for Hemophagocytic Lymphohistiocytosis

Polymorphonuclears Display a New Type of Abnormal Cytologic Granules (Chediak Higashi-Like) in a Very Rare Syndrome Linked to a Biallelic Defect of WDR81

Discovery of the First Pathogenic Human EPO Mutation Provides Mechanistic Insight into Cytokine Signaling

Turkish National Severe Congenital Neutropenia Registry

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American Society of Hematology

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American Society of Hematology

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