Page 1 | Search Results | Blood | American Society of Hematology

1-7 of 7

Sort by

Sort Order Select

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

Enhancing the Genetic Diversity of FXI Deficiency: Structural Variants and New Cross Reactive Positive Variants

Maria Eugenia de la Morena-Barrio, Belen De La Morena-Barrio, Carlos Bravo-Perez, Antonia Miñano, Jose Padilla, Rosa Cifuentes-Riquelme, Juan Jose Rojo-Carrillo, Angeles Palomo Bravo, Vicente Vicente, Maria Luisa Lozano, Javier Corral

Blood (2022) 140 (Supplement 1): 8478–8479.

https://doi.org/10.1182/blood-2022-166251

Published: 2022

Journal Articles

Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays

Maria Eugenia de la Morena-Barrio, Pierre Suchon, Eva Marie Jacobsen, Nina Iversen, Antonia Miñano, Belén de la Morena-Barrio, Carlos Bravo-Pérez, Jose Padilla, Rosa Cifuentes, Susana Asenjo, Jean François Deleuze, David Alexandre Trégouët, Maria Luisa Lozano, Vicente Vicente, Per Morten Sandset, Pierre Emmanuel Morange, Javier Corral

Blood (2022) 140 (2): 140–151.

https://doi.org/10.1182/blood.2021014708

Published: 2022

Includes: Supplemental data

Journal Articles

Characterizing Coagulation FVII from iPSC-Hepatocytes-like Cells: Setting the Basis for Cell Therapy Development

Maria Eugenia Chollet, MD PhD, Elisabeth Andersen, MSc, PhD, Maria Eugenia de la Morena-Barrio, PhD, Carlos Bravo-Perez, MD, Marie-Christine Mowinckel, Christiane Filion Myklebust, MSc, Ellen Skarpen, PhD, Bernd Thiede, PhD, Benedicte Stavik, PhD, Javier Corral, PhD, Gareth J Sullivan, PhD, Per Morten Sandset, MDPhD

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

https://doi.org/10.1182/blood-2020-139211

Published: 2020

Journal Articles

Archeogenetics of F11 p.Cys38Arg: a 5400-year-old mutation identified in different southwestern European countries

María Eugenia de la Morena-Barrio, Salam Salloum-Asfar, Julio Esteban, Belén de la Morena-Barrio, Carmen Altisent, Laura Martin-Fernández, Paul Gueguen, Jose Padilla, Antonia Miñano, Rafael Parra, Vicente Vicente, Francisco Vidal, Frederic Bauduer, Pablo Carbonell, Javier Corral

Blood (2019) 133 (24): 2618–2622.

https://doi.org/10.1182/blood.2019000055

Published: 2019

Journal Articles

Deubiquitnase BAP1 Downregulation in Myeloid Malignances: A New Pathogenic Mechanism, Dominant in Chronic Myelomonocytic Leukemia

Ana Maria Hurtado, Eva Caparrós, Jose Miguel Torregrosa, Ginés Luengo, Mara Toderici, María Eugenia De la Morena, Begoña Muiña, Maria Luisa Lozano, Constant Martinez, Mari Luz Amigo, Felipe De Arriba, Francisco Ortuño, Raul Teruel Montoya, PhD, Francisca Ferrer-Marin, MD, PhD, Vicente Vicente, MD PhD, Andres Jerez, MD PhD

Blood (2014) 124 (21): 5594.

https://doi.org/10.1182/blood.V124.21.5594.5594

Published: 2014

Journal Articles

Amelioration of the severity of heparin-binding antithrombin mutations by posttranslational mosaicism

Irene Martínez-Martínez, José Navarro-Fernández, Alice Østergaard, Ricardo Gutiérrez-Gallego, José Padilla, Nataliya Bohdan, Antonia Miñano, Cristina Pascual, Constantino Martínez, María Eugenia de la Morena-Barrio, Sonia Águila, Shona Pedersen, Søren Risom Kristensen, Vicente Vicente, Javier Corral

Blood (2012) 120 (4): 900–904.

https://doi.org/10.1182/blood-2012-01-406207

Published: 2012

NARROW

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

Enhancing the Genetic Diversity of FXI Deficiency: Structural Variants and New Cross Reactive Positive Variants

Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays

Characterizing Coagulation FVII from iPSC-Hepatocytes-like Cells: Setting the Basis for Cell Therapy Development

Archeogenetics of F11 p.Cys38Arg: a 5400-year-old mutation identified in different southwestern European countries

Deubiquitnase BAP1 Downregulation in Myeloid Malignances: A New Pathogenic Mechanism, Dominant in Chronic Myelomonocytic Leukemia

Amelioration of the severity of heparin-binding antithrombin mutations by posttranslational mosaicism

Email alerts

ASH Publications

American Society of Hematology

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

Enhancing the Genetic Diversity of FXI Deficiency: Structural Variants and New Cross Reactive Positive Variants

Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays

Characterizing Coagulation FVII from iPSC-Hepatocytes-like Cells: Setting the Basis for Cell Therapy Development

Archeogenetics of F11 p.Cys38Arg: a 5400-year-old mutation identified in different southwestern European countries

Deubiquitnase BAP1 Downregulation in Myeloid Malignances: A New Pathogenic Mechanism, Dominant in Chronic Myelomonocytic Leukemia

Amelioration of the severity of heparin-binding antithrombin mutations by posttranslational mosaicism

Email alerts

ASH Publications

American Society of Hematology

This Feature Is Available To Subscribers Only