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Journal Articles

A New Molecular Variant in the PTGS1 Gene That Abrogates Generation of Thromboxane A2 Synthesis and Associates with Platelet Dysfunction and Bleeding

Blood (2019) 134 (Supplement_1): 2375.

https://doi.org/10.1182/blood-2019-129200

Published: 2019

Journal Articles

The Inherited Platelet Disorder of RUNX1 Haploinsufficiency (Familial Platelet Disorder with Associated Myeloid Malignancy (FPDMM)) Has a Marked Deficiency of Megakaryocyte-Biased Hematopoietic Progenitor Cells: Mechanistic Studies and Drug Correction

Brian Estevez, PhD, Sara Borst, BS, Danuta Jadwiga Jarocha, PhD, Varun Sudunagunta, Michael Gonzalez, PhD, Peng Gao, Kai Tan, Deborah L French, PhD, Paul Gadue, PhD, Mortimer Poncz, MD

Blood (2019) 134 (Supplement_1): 220.

https://doi.org/10.1182/blood-2019-124851

Published: 2019

Journal Articles

Simplifying the diagnosis of inherited platelet disorders? The new tools do not make it any easier

Andreas Greinacher, Julia J. M. Eekels

Blood (2019) 133 (23): 2478–2483.

https://doi.org/10.1182/blood-2019-01-852350

Published: 2019

Journal Articles

Analysis of the Frequency of Spontaneous, Functionally-Significant Mutations in Genes Associated with Platelet Disorders in >120,000 Healthy Individuals

Joseph H Oved, MD BA, MA, Michele P. Lambert, MD, M. Anna Kowalska, PhD, Mortimer Poncz, MD, Konrad Karczewski, PhD

Blood (2018) 132 (Supplement 1): 2438.

https://doi.org/10.1182/blood-2018-99-115567

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

Identification of a Novel Heterozygous Mutation ( c.2213T>G;p.Leu738Arg ) in Platelet Glycoprotein ITGB3 gene in a Patient with Glanzmann's Thrombasthenia

Candido E. Rivera, MD, Prakash Vishnu, MD, Gretchen Schaef Johns, MD, Rajiv K. Pruthi, M.B.B.S., Dong Chen, MD PhD

Blood (2018) 132 (Supplement 1): 1158.

https://doi.org/10.1182/blood-2018-99-117995

Published: 2018

Journal Articles

Platelet Integrin αIIbβ3 Activation Kinetics in Inherited Platelet Functional Disorders ∼ the Role of ADP Receptor P2Y12, Caldag-GEFI and Kindlin-3 αIIbβ3 Activation By inside-out Signaling

Hisashi Kato, MDPhD, Nobuko Nishiura, Keigo Akuta, Hirokazu Kashiwagi, Koichi Kokame, Toshiyuki Miyata, Yuzuru Kanakura, MD PhD, Yoshiaki Tomiyama, MD

Blood (2018) 132 (Supplement 1): 1136.

https://doi.org/10.1182/blood-2018-99-112852

Published: 2018

Journal Articles

A mutation of the human EPHB2 gene leads to a major platelet functional defect

Blood (2018) 132 (19): 2067–2077.

https://doi.org/10.1182/blood-2018-04-845644

Published: 2018

Includes: Supplemental data

Journal Articles

GFI1B Splice Variants Differentially Regulate Transcription and Megakaryocyte/Erythrocyte Fate in Hematopoiesis

David McClellan, BS, Jason Singer, PhD, Matthew Velinder, PhD, Diana Bareyan, MS, Mattie Casey, BA, Helena Lucente, BS, Alexis Weston, BS, Sunil Sharma, MD, Michael Engel, MD PhD

Blood (2017) 130 (Supplement 1): 2430.

https://doi.org/10.1182/blood.V130.Suppl_1.2430.2430

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

Comparison of Different Phenotypes of Bernard-Soulier Syndrome

Maria A. Kumskova, MD, Nadezhda Zozulya, MD PhD, Valentina N. Dvyrnik, MD PhD, Elena Likhachyova, MD PhD, Elena Yakovleva, MD PhD, Valeriy G. Savchenko

Blood (2017) 130 (Supplement 1): 4856.

https://doi.org/10.1182/blood.V130.Suppl_1.4856.4856

Published: 2017

Journal Articles

Mass Cytometry of Platelets: Simultaneous Functional and Phenotypic Analysis of Multiple Surface Markers in Healthy Subjects and Patients with Inherited Platelet Disorders Reveals Novel Platelet Sub-Populations

Thomas A. Blair, PhD, Alan D Michelson, MD, Andrew L Frelinger, III, PhD

Blood (2017) 130 (Supplement 1): 2311.

https://doi.org/10.1182/blood.V130.Suppl_1.2311.2311

Published: 2017

Journal Articles

Congenital Thrombocytopenia and Myelofibrosis Due to Germline Mutations in G6b-B— a Megakaryocyte-Specific Immunoreceptor Tyrosine-Based Inhibitory Motif (ITIM) Receptor

Inga Hofmann, MD, Andrew Crispin, BS, Dean Campagna, BS, Monica Calicchio, Klaus Schmitz-Abe, Esther A. Obeng, MD PhD, Kyriacos Markianos, Yotis A. Senis, Mark D. Fleming, MD DPhil

Blood (2017) 130 (Supplement 1): 1630.

https://doi.org/10.1182/blood.V130.Suppl_1.1630.1630

Published: 2017

Journal Articles

GFI1B Mutation Associated Alpha-Delta Platelet Storage-Pool Deficiency: A Case Report and Its Potential Important Implication

Shirley M. Abraham, MD, Dong Chen, MD PhD, Karen Simon, Thomas Markello, William A. Gahl

Blood (2016) 128 (22): 3727.

https://doi.org/10.1182/blood.V128.22.3727.3727

Published: 2016

Journal Articles

Utility of Whole Exome Sequencing in Diagnosis of Pediatric Platelet Disorders: A Subanalysis of the Pediseq Study

Edward J Romasko, PhD, Sawona Biswas, MSc MS CGC, Batsal Devkota, PhD, Jayaraman Vijayakumar, Sowmyra Jairam, PhD, Christopher S Thom, MD PhD, Matthew C Dulik, PhD, Laura K Conlin, PhD, Nancy B. Spinner, PhD, Ian D Krantz, MD, Michele P. Lambert, MD MTR

Blood (2016) 128 (22): 3726.

https://doi.org/10.1182/blood.V128.22.3726.3726

Published: 2016

Journal Articles

Targeted Whole Exome Sequencing of 87 Predisposition Genes in 156 Patients from the Oresund Region with Bleeding Disorders

Eva B Leinoe, MD PhD, Eva Zetterberg, MD PhD, Olga Oestrup, Molecular biologist, PhD, Peter Kampmann, MD, Norstrom Eva, MD PhD, Nadine G Andersson, MD PhD, Savvas Kinalis, Data scientist, Klaus Qvortrup, Professor MD PhD, Caroline Maria Rossing, MD PhD

Blood (2016) 128 (22): 361.

https://doi.org/10.1182/blood.V128.22.361.361

Published: 2016

Journal Articles

Clinical Next Generation Sequencing to Identify Novel Platelet Disorders

Kathleen Freson, PhD

Blood (2016) 128 (22): SCI-38.

https://doi.org/10.1182/blood.V128.22.SCI-38.SCI-38

Published: 2016

Journal Articles

Whole Genome Sequencing of 10,000 Rare Disease Patients Reveals Digenic Inheritance of Blood Disorders

Ernest Turro, PhD, Nihr BioResource

Blood (2016) 128 (22): 2540.

https://doi.org/10.1182/blood.V128.22.2540.2540

Published: 2016

Journal Articles

Inherited platelet disorders: toward DNA-based diagnosis

Claire Lentaigne, Kathleen Freson, Michael A. Laffan, Ernest Turro, Willem H. Ouwehand

Blood (2016) 127 (23): 2814–2823.

https://doi.org/10.1182/blood-2016-03-378588

Published: 2016

Includes: Supplemental data

Journal Articles

Genomic landscape of megakaryopoiesis and platelet function defects

Elisa Bianchi, Ruggiero Norfo, Valentina Pennucci, Roberta Zini, Rossella Manfredini

Blood (2016) 127 (10): 1249–1259.

https://doi.org/10.1182/blood-2015-07-607952

Published: 2016

NARROW

A New Molecular Variant in the PTGS1 Gene That Abrogates Generation of Thromboxane A2 Synthesis and Associates with Platelet Dysfunction and Bleeding

The Inherited Platelet Disorder of RUNX1 Haploinsufficiency (Familial Platelet Disorder with Associated Myeloid Malignancy (FPDMM)) Has a Marked Deficiency of Megakaryocyte-Biased Hematopoietic Progenitor Cells: Mechanistic Studies and Drug Correction

Simplifying the diagnosis of inherited platelet disorders? The new tools do not make it any easier

Analysis of the Frequency of Spontaneous, Functionally-Significant Mutations in Genes Associated with Platelet Disorders in >120,000 Healthy Individuals

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

Identification of a Novel Heterozygous Mutation ( c.2213T>G;p.Leu738Arg ) in Platelet Glycoprotein ITGB3 gene in a Patient with Glanzmann's Thrombasthenia

Platelet Integrin αIIbβ3 Activation Kinetics in Inherited Platelet Functional Disorders ∼ the Role of ADP Receptor P2Y12, Caldag-GEFI and Kindlin-3 αIIbβ3 Activation By inside-out Signaling

A mutation of the human EPHB2 gene leads to a major platelet functional defect

GFI1B Splice Variants Differentially Regulate Transcription and Megakaryocyte/Erythrocyte Fate in Hematopoiesis

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

Comparison of Different Phenotypes of Bernard-Soulier Syndrome

Mass Cytometry of Platelets: Simultaneous Functional and Phenotypic Analysis of Multiple Surface Markers in Healthy Subjects and Patients with Inherited Platelet Disorders Reveals Novel Platelet Sub-Populations

Congenital Thrombocytopenia and Myelofibrosis Due to Germline Mutations in G6b-B— a Megakaryocyte-Specific Immunoreceptor Tyrosine-Based Inhibitory Motif (ITIM) Receptor

GFI1B Mutation Associated Alpha-Delta Platelet Storage-Pool Deficiency: A Case Report and Its Potential Important Implication

Utility of Whole Exome Sequencing in Diagnosis of Pediatric Platelet Disorders: A Subanalysis of the Pediseq Study

Targeted Whole Exome Sequencing of 87 Predisposition Genes in 156 Patients from the Oresund Region with Bleeding Disorders

Clinical Next Generation Sequencing to Identify Novel Platelet Disorders

Whole Genome Sequencing of 10,000 Rare Disease Patients Reveals Digenic Inheritance of Blood Disorders

Inherited platelet disorders: toward DNA-based diagnosis

Genomic landscape of megakaryopoiesis and platelet function defects

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American Society of Hematology

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ASH Publications

American Society of Hematology

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