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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

Molecular Characterization of EP300 Mutant Myeloid Neoplasia

Sunisa Kongkiatkamon, Yasunobu Nagata, MD PhD, Hassan Awada, Vera Adema, PhD, Cassandra M Kerr, MS, Kevin Fung, Francesca Gould, Christina Snider, Milo Co, Jibran Durrani, Hetty E. Carraway, MD MBA, Mikkael A. Sekeres, MD MS, Valeria Visconte, PhD, Jaroslaw P. Maciejewski, MD PhD

Blood (2019) 134 (Supplement_1): 5043.

https://doi.org/10.1182/blood-2019-130986

Published: 2019

Journal Articles

Hematological Disorders in Human Patients with Son Mutations

Lana Vukadin, Jung-Hyun Kim, PhD, Tara Bly Hackwelder, Nathan Ungerleider, PhD, Erik Flemington, Eun-Young Erin Ahn, PhD

Blood (2019) 134 (Supplement_1): 3709.

https://doi.org/10.1182/blood-2019-130616

Published: 2019

Journal Articles

Probably Pathogenic KMT2D Variants Presenting with Cytopenias and Primary Immune Deficiency

Sun Young Kim, MD PhD, Alexander Ing, MS, CGC, Kristin Clemenz, MS, CGC, Kai Lee Yap, PhD, Sherif M. Badawy, MD, Robert I Liem, MD MS, Alexis A. Thompson, MD MPH, A. Kyle Mack, MD

Blood (2019) 134 (Supplement_1): 2334.

https://doi.org/10.1182/blood-2019-131468

Published: 2019

Journal Articles

Brain Anomalies in Children with Severe Factor VIII Deficiency- a Pilot Study

Ahmad Al-Huniti, MD, Lyndsay A Harshman, MD, Marci Novak, Peggy Nopoulos, MD, Janice M Staber, MD

Blood (2019) 134 (Supplement_1): 1121.

https://doi.org/10.1182/blood-2019-131804

Published: 2019

Journal Articles

Evaluation of the Revised International Staging System in 400 Patients with Symptomatic Myeloma in a Japanese Clinical Setting

Yoshiaki Abe, Yamashita Takeshi, Ueda Mikio, Kazutaka Sunami, MD PhD, Kentaro Narita, MD, Hiroki Kobayashi, MD, Hiroyuki Takamatsu, MD PhD, Akihiro Kitadate, MD PhD, Masami Takeuchi, MD, Kosei Matsue, MD PhD

Blood (2018) 132 (Supplement 1): 4477.

https://doi.org/10.1182/blood-2018-99-109934

Published: 2018

Journal Articles

Phenotypes of Diamond Blackfan Anemia Patients with RPL35A Haploinsufficiency Due to 3q29 Deletion Compared with RPL35A Single Nucleotide Variants or Small Insertion/Deletions

Neelam Giri, MD, Matthew Gianferante, MD, Evangelia Atsidaftos, MA, MPH, Marcin W. Wlodarski, MD PhD, Paola Quarello, MD, Jana Volejnikova, MD, Polyxeni Delaporta, MD, Vijay G. Sankaran, MD PhD, Jason E. Farrar, MD, Maryam Hussain, MPH, Lisa J. McReynolds, MD PhD, Antonis Kattamis, Jeffrey M Lipton, MD PhD, Charlotte Niemeyer, MD, Dagmar Pospisilova, MD PhD, Ugo Ramenghi, MD, Sharon A. Savage, MD, Adrianna Vlachos, MD, Blanche P. Alter, MD MPH

Blood (2018) 132 (Supplement 1): 3854.

https://doi.org/10.1182/blood-2018-99-117171

Published: 2018

Journal Articles

Pathogenesis Study of Down Syndrome Prone to Leukemia Using iPSCs from Trisomy 21 Patients

Hui Jin, PhD, Zijuan Wu, Handong Sun, Jianyong Li, MD PhD

Blood (2018) 132 (Supplement 1): 5085.

https://doi.org/10.1182/blood-2018-99-120320

Published: 2018

Journal Articles

Inherited Disorders of the Ras-MAPK Pathway

Christian P. Kratz, MD, Martin Zenker, MD

Blood (2018) 132 (Supplement 1): SCI-41.

https://doi.org/10.1182/blood-2018-99-109379

Published: 2018

Journal Articles

Health Care Utilization Trajectories and Associated Factors for Transitioning Adolescents/Young Adults with Sickle Cell Disease

Mariam Kayle, PhD RN, Nirmish Shah, MD, Paula Tanabe, PhDRN, Richard Sloane, MPH, Gary Maslow, MD, Wei Pan, PhD, Sharron Docherty, PhD

Blood (2017) 130 (Supplement 1): 131.

https://doi.org/10.1182/blood.V130.Suppl_1.131.131

Published: 2017

Journal Articles

Random X-Chromosome Inactivation in Hemophilia A Carriers Does Not Fully Attenuate Bleeding Risk

Peter H. Cygan, MD, Elizabeth A. Weidman, BS, Lan Kong, PhD, Laura Carrel, PhD, M. Elaine Eyster, MD

Blood (2017) 130 (Supplement 1): 3676.

https://doi.org/10.1182/blood.V130.Suppl_1.3676.3676

Published: 2017

Journal Articles

Molecular Monitoring of NPM1 Is a Useful Tool for Detecting Early-Stage Relapse and to Guide Pre-Emptive Treatment Approaches in Patients with NPM1-Mutated Acute Myeloid Leukemia

Francesca Schieppati, MD, Angela Passi, MD, Erika Borlenghi, MD, Cinzia Lamorgese, Giuseppina Ruggeri, MD, Marco Chiarini, MSc, Viviana Giustini, MSc, Michele Malagola, MD, Chiara Cattaneo, MD, Margherita Sciumé, Giuseppe Rossi, MD

Blood (2017) 130 (Supplement 1): 3931.

https://doi.org/10.1182/blood.V130.Suppl_1.3931.3931

Published: 2017

Journal Articles

Heterogeneous Landscape of RUNX1 Related Disorder: Four Families with Inherited Thrombocytopenias and Novel Genetic Variants in RUNX1 Associated to Relevant Clinical Complications

Jose Maria Bastida, MDPhD, Rocio Benito, Jesus M Hernández-Sánchez, Maria L Lozano, Kamila Janusz, Eva Lumbreras, Alvaro Lassaletta, Susana Riesco, Jorge Huerta, Veronica Palma-Barqueros, Ana Hortal, Maria Díez-Campelo, Maria Isabel Prieto-Conde, Maria Carmen Chillon, Consuelo Del Cañizo, MDPhD, Jesús M Hernández-Rivas, MD PhD, Jose Rivera, Jose Ramon González-Porras, MDPhD

Blood (2017) 130 (Supplement 1): 3647.

https://doi.org/10.1182/blood.V130.Suppl_1.3647.3647

Published: 2017

Journal Articles

Erectile Dysfunction after Allogeneic Hematopoietic Stem Cell Transplant: Results from a Single Center Experience

Angelo Andreini, Nicola Zampieri, Claudio Costantini, Giovanni Malerba, Costanza Bruno, Gianluca Salvagno, Giuseppe Francia, Michele Gottardi, Michela Rimondini, Giuseppe Lippi, Isacco Ferrarini, Fabio Benedetti, Giovanni Pizzolo, Cristina Tecchio

Blood (2017) 130 (Supplement 1): 4530.

https://doi.org/10.1182/blood.V130.Suppl_1.4530.4530

Published: 2017

Journal Articles

Congenital Methemoglobinemia Under Diagnosed Condition with Variiable Therapeurtic Options

Mohamed A. Yassin, MBBS,MSc,CABM,FACP,MSC, Dina Sameh Soliman, PhD

Blood (2017) 130 (Supplement 1): 4746.

https://doi.org/10.1182/blood.V130.Suppl_1.4746.4746

Published: 2017

Journal Articles

Large Deletions and Novel Mutations in Genes Coding for Ribosomal Proteins ( RPL11 , RPL35A , RPS19 ) in the Czech National Registry of Diamond-Blackfan Anemia (DBA)

Jana Volejnikova, MD, Petr Vojta, MSc, Zuzana Maceckova, MSc, Pavla Koralkova, MSc, Helena Urbankova, MSc, PhD, Monika Horvathova, MSc, PhD, Barbora Ludikova, MD PhD, Martina Sukova, MD, Pavel Timr, MD, Marian Hajduch, MD PhD, Dagmar Pospisilova, Prof. MD PhD

Blood (2017) 130 (Supplement 1): 3485.

https://doi.org/10.1182/blood.V130.Suppl_1.3485.3485

Published: 2017

Journal Articles

Role of Histone Deacetylase-Mediated Gene Silencing in Chronic Lymphocytic Leukemia Progression

Lara Rizzotto, PhD, Arianna Bottoni, PhD, Tzung-Huei Lai, PhD, Chaomei Liu, BS, Pearlly S Yan, PhD, Hatice G Ozer, PhD, Rosa Lapalombella, PhD, Jennifer A. Woyach, MD, Christopher C Oakes, PhD, James S. Blachly, MD, Deepa Sampath, PhD

Blood (2016) 128 (22): 2705.

https://doi.org/10.1182/blood.V128.22.2705.2705

Published: 2016

Journal Articles

PHF6 Somatic Mutations and Their Functional Role in the Pathophysiology of Myelodysplastic Syndromes (MDS) and Acute Myeloid Leukemia (AML)

Bartlomiej P Przychodzen, MSc, Xiaorong Gu, PhD, Dewen You, PhD, Cassandra M. Hirsch, BSc, Michael J. Clemente, M.S., Mikkael A. Sekeres, MD MS, Aziz Nazha, MD, Hideki Makishima, MD PhD FACP., Jaroslaw P Maciejewski, MD PhD FACP

Blood (2016) 128 (22): 2736.

https://doi.org/10.1182/blood.V128.22.2736.2736

Published: 2016

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

A Homozygous Germ Line Nonsense Mutation in BRCA1 Leading Fanconi Anemia and Neuroblastoma

Demirel Mehmet, Sule Unal, Fatma Gumruk, Nurten Ayse Akarsu

Blood (2016) 128 (22): 5073.

https://doi.org/10.1182/blood.V128.22.5073.5073

Published: 2016

NARROW

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

Molecular Characterization of EP300 Mutant Myeloid Neoplasia

Hematological Disorders in Human Patients with Son Mutations

Probably Pathogenic KMT2D Variants Presenting with Cytopenias and Primary Immune Deficiency

Brain Anomalies in Children with Severe Factor VIII Deficiency- a Pilot Study

Evaluation of the Revised International Staging System in 400 Patients with Symptomatic Myeloma in a Japanese Clinical Setting

Phenotypes of Diamond Blackfan Anemia Patients with RPL35A Haploinsufficiency Due to 3q29 Deletion Compared with RPL35A Single Nucleotide Variants or Small Insertion/Deletions

Pathogenesis Study of Down Syndrome Prone to Leukemia Using iPSCs from Trisomy 21 Patients

Inherited Disorders of the Ras-MAPK Pathway

Health Care Utilization Trajectories and Associated Factors for Transitioning Adolescents/Young Adults with Sickle Cell Disease

Random X-Chromosome Inactivation in Hemophilia A Carriers Does Not Fully Attenuate Bleeding Risk

Molecular Monitoring of NPM1 Is a Useful Tool for Detecting Early-Stage Relapse and to Guide Pre-Emptive Treatment Approaches in Patients with NPM1-Mutated Acute Myeloid Leukemia

Heterogeneous Landscape of RUNX1 Related Disorder: Four Families with Inherited Thrombocytopenias and Novel Genetic Variants in RUNX1 Associated to Relevant Clinical Complications

Erectile Dysfunction after Allogeneic Hematopoietic Stem Cell Transplant: Results from a Single Center Experience

Congenital Methemoglobinemia Under Diagnosed Condition with Variiable Therapeurtic Options

Large Deletions and Novel Mutations in Genes Coding for Ribosomal Proteins ( RPL11 , RPL35A , RPS19 ) in the Czech National Registry of Diamond-Blackfan Anemia (DBA)

Role of Histone Deacetylase-Mediated Gene Silencing in Chronic Lymphocytic Leukemia Progression

PHF6 Somatic Mutations and Their Functional Role in the Pathophysiology of Myelodysplastic Syndromes (MDS) and Acute Myeloid Leukemia (AML)

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

A Homozygous Germ Line Nonsense Mutation in BRCA1 Leading Fanconi Anemia and Neuroblastoma

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American Society of Hematology

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ASH Publications

American Society of Hematology

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