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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 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

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

Influence of Age on Treatment with Thrombopoietin Receptor Agonists in Patients with Immune Thrombocytopenia; A Retrospective Multicenter Study

Blood (2019) 134 (Supplement_1): 2361.

https://doi.org/10.1182/blood-2019-122237

Published: 2019

Journal Articles

Predictive Factors for Thrombopoietin Receptor Agonist Free Responses in Chronic ITP Patients: A Multicenter Retrospective Study with Long-Term Follow-up

Blood (2019) 134 (Supplement_1): 2370.

https://doi.org/10.1182/blood-2019-125580

Published: 2019

Journal Articles

Do Guidelines Influence Diagnostic and Therapeutic Practice in Immune Thrombocytopenia? Results of a Multicenter Retrospective Study

Blood (2019) 134 (Supplement_1): 1088.

https://doi.org/10.1182/blood-2019-125557

Published: 2019

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

Influence of Inhibitor Characteristics on Response to Hemostatic and Immunosuppressive Treaments in Acquired Hemophilia Patients: The Ciha Project

Maria Eva Mingot, PhD MD, Pascual Marco-Vera, PhD MD, Andrés Moret, PhD MD, Carmen de Cos, MD, Faustino García-Candel, PhD MD, Raquel Garrido, MD, Jose Ramon González-Porras, MDPhD, María Fernanda López, PhD MD, Laura Quintana, MD, Ramon Rodríguez-González, MD, Ana Isabel Heiniger, MD

Blood (2017) 130 (Supplement 1): 2367.

https://doi.org/10.1182/blood.V130.Suppl_1.2367.2367

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

Usefulness of Thrombopoietin Receptor Agonists for Thrombocytopenia after Allogeneic Stem Cell Transplantation. An Eight-Year Single Center Experience

Daniel Rivera, MD, Jose Maria Bastida, MDPhD, Lucia Lopez Corral, PhD MD, Fermin Sanchez-Guijo, MD PhD, Lourdes Vázquez, MD, Monica Cabrero, MD, Estefania Pérez-López, MD, Miriam López-Parra, MD, Ana A. Martín, MD, Javier Carrillo, MD, Alejandro Avendaño, MD, Alvaro Veiga, MD, Monica Baile, MD, Nerea Arratibel, MD, Dolores Caballero, MD PhD, Consuelo Del Cañizo, MDPhD, Jose Ramon González-Porras, MDPhD

Blood (2017) 130 (Supplement 1): 3222.

https://doi.org/10.1182/blood.V130.Suppl_1.3222.3222

Published: 2017

Journal Articles

Extracellular Vesicles Play an Important Role in Intercellular Communication Between Bone Marrow Stroma and Hematopoietic Progenitor Cells in Myeloproliferative Neoplasms

Teresa L. Ramos, Luis Ignacio Sánchez-Abarca, Beatriz Rosón, Alba Redondo, Concepción Rodríguez, Haidy Rodríguez, Rebeca Ortega, Ana Rico, Silvia Preciado, Olga López Villar, Sandra Muntión, José Ramón González-Porras, MD, Jesus Hernandez, MD, Javier de las Rivas, PhD, Ángel Hernández-Hernández, PhD, Fermín Sánchez-Guijo, MD PhD, Consuelo Del Cañizo, MD PhD

Blood (2016) 128 (22): 1957.

https://doi.org/10.1182/blood.V128.22.1957.1957

Published: 2016

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

HDAC8 Overexpression in Mesenchymal Stromal Cells from JAK2 + myeloproliferative Neoplasms: A New Therapeutic Target?

Teresa L. Ramos, Luis Ignacio Sánchez-Abarca, Rosón Beatriz, Concepción Rodríguez Serrano, Alba Redondo, Rebeca Ortega, Ángel Hernández-Hernández, Sandra Muntión, Silvia Preciado, José Ramón González-Porras, MD, Fermín Sánchez-Guijo, MD, Consuelo Del CaÃ±izo, MD

Blood (2015) 126 (23): 2831.

https://doi.org/10.1182/blood.V126.23.2831.2831

Published: 2015

Journal Articles

Usefulness of Eltrombopag in Secondary ITP Patients in Clinical Practice

Tomás José González-López, MD, María Teresa Alvarez-Roman, MD, Cristina Pascual, MD, Blanca Sánchez-González, MD, Fernando Fernández-Fuentes, MD, Gloria Pérez-Rus, MD, José Angel Hernández-Rivas, MD, Silvia Bernat, MD, Montserrat Cortés, MD, José María Bastida, MD, Violeta Martínez-Robles, MD, Angeles Fernández-Rodríguez, MD, Pavel Olivera, MD, Estefanía Bolaños, MD, Rafael Alonso, MD, Laura Entrena, MD, Marta Gómez-Nuñez, MD, Nuria Bermejo, MD, María Paz Martínez-Badas, María Jesús Peñarrubia, MD, Arancha Alonso, MD, Inmaculada Soto, MD, María Yera Cobo, MD, Alberto Casaus, MD, Isabel Caparrós, MD, María Perera, MD, Reyes Jiménez Bárcenas, MD, Cecilia Heras, MD, María Calbacho, MD, Maria Tenorio, MD, Armando Luaña, MD, Elsa Lopez-Ansoar, MD, Gerardo Hermida, MD, Javier García-Frade, MD, José Ramón González-Porras, MD, Miguel A. Sanz, MD PhD

Blood (2015) 126 (23): 2263.

https://doi.org/10.1182/blood.V126.23.2263.2263

Published: 2015

Journal Articles

Efficacy and Safety of Eltrombopag in Persistent and Newly Diagnosed ITP

Blood (2015) 126 (23): 4657.

https://doi.org/10.1182/blood.V126.23.4657.4657

Published: 2015

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

Use of Eltrombopag after Romiplostim in Primary ITP Patients

Tomás José González-López, Cristina Pascual, María Teresa Álvarez-Román, Fernando Fernández-Fuentes, Blanca Sánchez-González, Isabel Caparrós, Isidro Jarque, María Eva Mingot, José Angel Hernández-Rivas, Mónica Martín-Salces, Laura Solán, Paola Beneit, Reyes Jiménez, Silvia Bernat, Marcio M. Andrade, Montserrat Cortés, María José Cortti, Susana Pérez-Crespo, Marta Gómez-Núñez, Pavel E. Olivera, Gloria Pérez-Rus, Violeta Martínez-Robles, Rafael Alonso, Angeles Fernández-Rodríguez, María Carmen Arratibel, María Perera, Carmen Fernández-Miñano, Miguel Angel Fuertes-Palacio, Juan Andrés Vázquez-Paganini, Luis Miguel Juárez-Salcedo, Inés Valcarce, Francisco Javier Díaz-Gálvez, Adriana Sainz, Rosa Fisac, Carlos Aguilar, María Paz Martínez-Badas, María Jesús Peñarrubia, Javier García-Frade, Maria Calbacho, Carmen de Cos, Manuel González-Silva, Erika Coria, Arancha Alonso, Alberto Casaus, Armando Luaña, Pilar Galán, Cristina Fernández-Canal, José Ramón González-Porras

Blood (2014) 124 (21): 2790.

https://doi.org/10.1182/blood.V124.21.2790.2790

Published: 2014

Journal Articles

Successful Discontinuation of Eltrombopag after Complete Remission in Patients with Primary Immune Thrombocytopenia

Tomás José González-López, Cristina Pascual, María Teresa Álvarez-Román, Fernando Fernández-Fuertes, Blanca Sánchez-González, Isabel Caparrós, Isidro Jarque, María Eva Mingot, José Ángel Hernández-Rivas, Mónica Martín-Salces, Laura Solán, Paola Beneit, Reyes Jiménez, Silvia Bernat, Marcio M Andrade, MD, Montserrat Cortés, Maria José Cortti, Susana Pérez-Crespo, Marta Gómez-Núñez, Pavel E. Olivera, Gloria Pérez-Rus, Violeta Martínez-Robles, Rafael Alonso, Angeles Fernández-Rodríguez, María Carmen Arratibel, María Perera, Carmen Fernández-Miñano, Miguel Angel Fuertes-Palacio, Juan Andrés Vázquez-Paganini, Isabel Gutierrez-Jomarrón, Inés Valcarce, Erik de Cabo, Adriana Sainz, Rosa Fisac, Carlos Aguilar, María Paz Martínez-Badas, María Jesús Peñarrubia, Javier Garcia-Frade, María Calbacho, Carmen de Cos, Manuel González-Silva, Erika Coria, Arancha Alonso, Alberto Casaus, Armando Luaña, Pilar Galán, Cristina Fernández-Canal, José Ramón González-Porras

Blood (2014) 124 (21): 1465.

https://doi.org/10.1182/blood.V124.21.1465.1465

Published: 2014

Journal Articles

Sustained Response After Short-Medium-Term Treatment With Eltrombopag In Patients With ITP

Tomás José González-López, MD PhD, José Ramón González-Porras, MD PhD, Maryam Arefi, MD PhD, Erik De Cabo, PhD, Blanca Sanchez Gonzalez, MD PhD, Arancha Alonso, MD PhD, Mónica Martin, MD PhD, Reyes Jimenez, MD PhD, Maria Calbacho, MD PhD, Abelardo Bárez, MD PhD, Jesus F San Miguel, MD, PhD

Blood (2013) 122 (21): 2323.

https://doi.org/10.1182/blood.V122.21.2323.2323

Published: 2013

NARROW

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

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

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)

Influence of Age on Treatment with Thrombopoietin Receptor Agonists in Patients with Immune Thrombocytopenia; A Retrospective Multicenter Study

Predictive Factors for Thrombopoietin Receptor Agonist Free Responses in Chronic ITP Patients: A Multicenter Retrospective Study with Long-Term Follow-up

Do Guidelines Influence Diagnostic and Therapeutic Practice in Immune Thrombocytopenia? Results of a Multicenter Retrospective Study

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

Influence of Inhibitor Characteristics on Response to Hemostatic and Immunosuppressive Treaments in Acquired Hemophilia Patients: The Ciha Project

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

Usefulness of Thrombopoietin Receptor Agonists for Thrombocytopenia after Allogeneic Stem Cell Transplantation. An Eight-Year Single Center Experience

Extracellular Vesicles Play an Important Role in Intercellular Communication Between Bone Marrow Stroma and Hematopoietic Progenitor Cells in Myeloproliferative Neoplasms

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

HDAC8 Overexpression in Mesenchymal Stromal Cells from JAK2 + myeloproliferative Neoplasms: A New Therapeutic Target?

Usefulness of Eltrombopag in Secondary ITP Patients in Clinical Practice

Efficacy and Safety of Eltrombopag in Persistent and Newly Diagnosed ITP

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

Use of Eltrombopag after Romiplostim in Primary ITP Patients

Successful Discontinuation of Eltrombopag after Complete Remission in Patients with Primary Immune Thrombocytopenia

Sustained Response After Short-Medium-Term Treatment With Eltrombopag In Patients With ITP

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American Society of Hematology

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