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Journal Articles

Inherited Thrombocytopenias Predisposing to Hematologic Neoplasms. Experience of the Spanish Group for Inherited Platelet Disorders (GEAPC)

Blood (2023) 142 (Supplement 1): 1357.

https://doi.org/10.1182/blood-2023-180690

Published: 2023

Journal Articles

Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis

Ana Marín-Quílez, Christian Andrea Di Buduo, Lorena Díaz-Ajenjo, Vittorio Abbonante, Elena Vuelta, Paolo Maria Soprano, Cristina Miguel-García, Sandra Santos-Mínguez, Inmaculada Serramito-Gómez, Pedro Ruiz-Sala, María Jesús Peñarrubia, Emilia Pardal, Jesús María Hernández-Rivas, José Ramón González-Porras, Ignacio García-Tuñón, Rocío Benito, José Rivera, Alessandra Balduini, José María Bastida

Blood (2023) 141 (4): 406–421.

https://doi.org/10.1182/blood.2022016995

Published: 2023

Includes: Supplemental data

Journal Articles

Identification By Longread Nanopore Sequencing of a Complex Structural Variant in ITGB3 with a Founder Effect Causing Glanzmann's Thrombasthenia in Two Unrelated Patients

Maria Luisa Lozano, Ana Zamora-Cánovas, Belen De La Morena-Barrio, Cristina Sierra, Christoph Male, Jose Padilla, Maria Eugenia de la Morena-Barrio, Veronica Palma-Barqueros, Ana Sánchez-Fuentes, Agustín Rodriguez-Alen, Ana Marín-Quílez, Nuria Revilla Calvo, Vicente Vicente, Jose Maria Bastida, Javier Corral, Jose Rivera Pozo

Blood (2022) 140 (Supplement 1): 2695–2696.

https://doi.org/10.1182/blood-2022-160181

Published: 2022

Journal Articles

A Successful Patient Blood Management System Implemented during the COVID Pandemic Based on Daily Blood Inventory Levels in a Single Large Oncology Institution

Fleur M. Aung, Adriana M. Knopfelmacher Couchonal, Jeff Beno, Alana Newman, Jolyn Taylor, Mark W. Clemens, Jose Rivera, Carmen Gonzalez, Ron A. Phipps

Blood (2022) 140 (Supplement 1): 11391–11392.

https://doi.org/10.1182/blood-2022-157578

Published: 2022

Journal Articles

Identification By Whole Exome Sequencing of the Molecular Defect in a Novel Gene Related to Glycosylation in Two Unrelated Families with Syndromic Macrothrombocytopenia

Ana Marín-Quílez, Elena Vuelta, Sandra Santos-Mínguez, Cristina Miguel-García, Pedro Ruíz-Sala, Veronica Palma-Barqueros, Lorena Díaz-Ajenjo, Inmaculada Serramito-Gómez, Maria Jesús Peñarrubia, Emilia Pardal, Daisy Castiñeiras-Ramos, José Ramón González-Porras, Jose Rivera, Rocio Benito, Jesus Maria Hernández-Rivas, Ignacio García-Tuñón, Jose Maria Bastida

Blood (2021) 138 (Supplement 1): 588.

https://doi.org/10.1182/blood-2021-150765

Published: 2021

Journal Articles

Comprehensive Description of Monoallelic GP1BA Variants Associated with Thrombocytopenia

Rachel C Peck, BSc,MRCP, Sarah Westbury, MBBChir, MRCP, Lucy Fitzgibbon, Neil V Morgan, Jose Rivera, PhD, Walter H. Kahr, MDPhDFRCPC, Nihr BioResource, Karyn Megy, Kate Downes, PhD, Daniel Greene, Ernest Turro, PhD, Andrew David Mumford

Blood (2020) 136 (Supplement 1): 34–35.

https://doi.org/10.1182/blood-2020-133987

Published: 2020

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

Strategies for Analysis of Novel Molecular Variants in the RUNX1 Gene As a Cause of Familial Platelet Disorder with Predisposition to Acute Myeloid Leukemia (FPD/AML)

Veronica Palma-Barqueros, MSc, Jf Ruiz-Pividal, MSc, Jose Maria Bastida, MD PhD, Natalia Bohdan, MJ Lopez-Andreu, PhD, Raul Teruel-Montoya, PhD, Ana Isabel Antón, PhD, Francisca Ferrer Marin, MD PhD, Jose Padilla, Rosa Cifuentes-Riquelme, A Marín-Quilez, MSc, Marta Martín Izquierdo, MSc, Rocio Benito, PhD, Vicente Vicente, MD PhD, Jesus Maria . Hernández-Rivas, MD, José Ramón González-Porras, MD PhD, Jose Rivera, PhD, Maria Luisa Lozano, MD PhD

Blood (2019) 134 (Supplement_1): 2359.

https://doi.org/10.1182/blood-2019-128736

Published: 2019

Journal Articles

Aging of Bone Marrow Microenvironment Promotes Myeloid Bias of Hematopoietic Progenitors and Is a Target in Age-Related Myeloproliferative Neoplasms

Blood (2018) 132 (Supplement 1): 3842.

https://doi.org/10.1182/blood-2018-99-116015

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

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

Novel mutations in RASGRP2 , which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction

María Luisa Lozano, Aaron Cook, José María Bastida, David S. Paul, Gemma Iruin, Ana Rosa Cid, Rosa Adan-Pedroso, José Ramón González-Porras, Jesús María Hernández-Rivas, Sarah J. Fletcher, Ben Johnson, Neil Morgan, Francisca Ferrer-Marin, Vicente Vicente, John Sondek, Steve P. Watson, Wolfgang Bergmeier, José Rivera

Blood (2016) 128 (9): 1282–1289.

https://doi.org/10.1182/blood-2015-11-683102

Published: 2016

Includes: Supplemental data

Journal Articles

Design and Validate of Next-Generation Sequencing Panel for Inherited Platelet Disorders

Blood (2014) 124 (21): 4210.

https://doi.org/10.1182/blood.V124.21.4210.4210

Published: 2014

Journal Articles

Preclinical Evaluation of Orally Bioavailable Small-Molecule Inhibitors of Complement Factor D As a Potential Treatment for Paroxysmal Nocturnal Hemoglobinuria

Jason Wiles, PhD, Steven Podos, PhD, Jane Thanassi, Avinash Phadke, PhD, Venkat Gadhachanda, PhD, Godwin Pais, PhD, Akihiro Hashimoto, PhD, Qiuping Wang, PhD, Dawei Chen, PhD, Xiangzhu Wang, PhD, Atul Agarwal, PhD, Jose Rivera, Michael Elliot, Christopher Marlor, Jay Zhang, Milind Deshpande, PhD, Mingjun Huang, PhD, Yongqing Huang, PhD

Blood (2014) 124 (21): 4819.

https://doi.org/10.1182/blood.V124.21.4819.4819

Published: 2014

Journal Articles

Influence of Genetic Polymorphisms in CYP2C8 and ABCB1 on the Mobilization Ability and Toxicity of Paclitaxel,

María L. Lozano, MD. PhD., Elkin A. Niño, Ana Isabel Anton, Jose Padilla, Jose Rivera, Juan José Cerezo, Cristina Castilla-Llorente, Vicente Garcia

Blood (2011) 118 (21): 4050.

https://doi.org/10.1182/blood.V118.21.4050.4050

Published: 2011

Journal Articles

Polymorphisms of Platelet Membrane Glycoprotein Ib Associated With Arterial Thrombotic Disease

Rocio Gonzalez-Conejero, Maria L. Lozano, Jose Rivera, Javier Corral, Juan A. Iniesta, Jose M. Moraleda, Vicente Vicente

Blood (1998) 92 (8): 2771–2776.

https://doi.org/10.1182/blood.V92.8.2771

Published: 1998

NARROW

Inherited Thrombocytopenias Predisposing to Hematologic Neoplasms. Experience of the Spanish Group for Inherited Platelet Disorders (GEAPC)

Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis

Identification By Longread Nanopore Sequencing of a Complex Structural Variant in ITGB3 with a Founder Effect Causing Glanzmann's Thrombasthenia in Two Unrelated Patients

A Successful Patient Blood Management System Implemented during the COVID Pandemic Based on Daily Blood Inventory Levels in a Single Large Oncology Institution

Identification By Whole Exome Sequencing of the Molecular Defect in a Novel Gene Related to Glycosylation in Two Unrelated Families with Syndromic Macrothrombocytopenia

Comprehensive Description of Monoallelic GP1BA Variants Associated with Thrombocytopenia

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

Strategies for Analysis of Novel Molecular Variants in the RUNX1 Gene As a Cause of Familial Platelet Disorder with Predisposition to Acute Myeloid Leukemia (FPD/AML)

Aging of Bone Marrow Microenvironment Promotes Myeloid Bias of Hematopoietic Progenitors and Is a Target in Age-Related Myeloproliferative Neoplasms

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

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

Novel mutations in RASGRP2 , which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction

Design and Validate of Next-Generation Sequencing Panel for Inherited Platelet Disorders

Preclinical Evaluation of Orally Bioavailable Small-Molecule Inhibitors of Complement Factor D As a Potential Treatment for Paroxysmal Nocturnal Hemoglobinuria

Influence of Genetic Polymorphisms in CYP2C8 and ABCB1 on the Mobilization Ability and Toxicity of Paclitaxel,

Polymorphisms of Platelet Membrane Glycoprotein Ib Associated With Arterial Thrombotic Disease

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American Society of Hematology

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ASH Publications

American Society of Hematology

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