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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

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

Biological Impact of Monoallelic and Biallelic BIRC3 Loss in Del(11q) Chronic Lymphocytic Leukemia Progression

Miguel Quijada Álamo, MSc, Maria Hernandez-Sanchez, PhD, Ana E. Rodriguez, PhD, Claudia Pérez Carretero, MSc, BSc, Marta Martín Izquierdo, MSc, Verónica Alonso Pérez, PhD, Ignacio García-Tuñón, PhD, Jose Maria Bastida, MDPhD, Maria Jesus Vidal, MD, Josefina Galende DEL Canto, MD, Carlos Aguilar, MD, José Antonio Queizán, MD, Isabel González-Gascón Y Marín, MD PhD, Jose-Angel Hernandez, MD PhD, Rocio Benito, PhD, José Luis Ordóñez, PhD, Jesus Maria Hernández-Rivas, MD PhD

Blood (2020) 136 (Supplement 1): 4.

https://doi.org/10.1182/blood-2020-142658

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

Design of a NGS Platform for the Integrated Analysis of Genetic Mutations, Copy Number Alteration and Somatic Hypermutation of IGHV in CLL

Miguel Alcoceba, PhD, Maria Garcia-Alvarez, B.Sc., Anna Puiggros, PhD, Luis Espinosa-Hevia, PhD, Andrea Gómez-Llonín, B.Sc., Almudena Navarro, MD, Jose Maria Bastida, MD PhD, Norma C. Gutierrez, MD PhD, Jose A. Garcia-Marco, MD PhD, Blanca Espinet, PhD, Ramón García-Sanz, MD PhD, Marcos González, MD PhD

Blood (2018) 132 (Supplement 1): 1851.

https://doi.org/10.1182/blood-2018-99-114995

Published: 2018

Journal Articles

Thrombopoietin Receptor Agonists for Severe Thrombocytopenia after Allogeneic Stem Cell Transplantation: Experience of a Multicenter Study from the Grupo Español De Trasplante Hematopoyético (GETH)

Blood (2018) 132 (Supplement 1): 200.

https://doi.org/10.1182/blood-2018-200

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

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

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

Effect of Pregnancy on the Clinical Course of ITP Pregnant Women and Their Newborns. Resuts of a Spanish Case Series of 297 Primary ITP Pregnancies

Blood (2017) 130 (Supplement 1): 4847.

https://doi.org/10.1182/blood.V130.Suppl_1.4847.4847

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

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

Thromboprophylaxis in Multiple Myeloma Patients Treated with Lenalidomide - a Systematic Review

Fatimah Al-Ani, MD MRCP, Martha L Louzada, BSc, MD MSc, Jose Maria Bastida Bermejo, PhD, Maria Victoria Mateos, MD PhD

Blood (2015) 126 (23): 2321.

https://doi.org/10.1182/blood.V126.23.2321.2321

Published: 2015

Journal Articles

Impact of Treatment on Overall Survival (OS) in Higher-Risk Myelodysplastic Syndromes (MDS): A Report from the Erasme Study

Montserrat Arnan, MD PhD, Rosa Coll, MD, Mar Tormo, MD PhD, José María Bastida, MD, María Calbacho, MD, Teresa Bernal, MD, Fernando Ramos, MD PhD MPH, Nieves Somolinos, MD, Carmen Pedro, MD, Manuel Albors, MD, Inmaculada Marchante, MD, Salut Brunet, MD PhD, Montse Rafel, David Valcárcel, MD PhD

Blood (2015) 126 (23): 5240.

https://doi.org/10.1182/blood.V126.23.5240.5240

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

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

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

Biological Impact of Monoallelic and Biallelic BIRC3 Loss in Del(11q) Chronic Lymphocytic Leukemia Progression

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)

Design of a NGS Platform for the Integrated Analysis of Genetic Mutations, Copy Number Alteration and Somatic Hypermutation of IGHV in CLL

Thrombopoietin Receptor Agonists for Severe Thrombocytopenia after Allogeneic Stem Cell Transplantation: Experience of a Multicenter Study from the Grupo Español De Trasplante Hematopoyético (GETH)

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

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

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

Effect of Pregnancy on the Clinical Course of ITP Pregnant Women and Their Newborns. Resuts of a Spanish Case Series of 297 Primary ITP Pregnancies

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

Usefulness of Eltrombopag in Secondary ITP Patients in Clinical Practice

Thromboprophylaxis in Multiple Myeloma Patients Treated with Lenalidomide - a Systematic Review

Impact of Treatment on Overall Survival (OS) in Higher-Risk Myelodysplastic Syndromes (MDS): A Report from the Erasme Study

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

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American Society of Hematology

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