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

1-20 of 35

Sort by

Sort Order Select

Journal Articles

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants

Blood (2023) 142 (24): 2055–2068.

https://doi.org/10.1182/blood.2023020118

Published: 2023

Includes: Supplemental data

Journal Articles

Turbulence Enhances Fine-Tuning of Mitochondria Delivery in Megakaryocyte Maturation Contributing to Biogenesis of High Quality Platelets

Emiri Nakamura, Yasuo Harada, Koenraad De Wispelaere, Chantal Thys, Kathleen Freson, Koji Eto

Blood (2023) 142 (Supplement 1): 3964.

https://doi.org/10.1182/blood-2023-181330

Published: 2023

Journal Articles

Ribosome dysfunction underlies SLFN14-related thrombocytopenia

Fabienne Ver Donck, Kato Ramaekers, Chantal Thys, Christine Van Laer, Kathelijne Peerlinck, Chris Van Geet, Koji Eto, Veerle Labarque, Kathleen Freson

Blood (2023) 141 (18): 2261–2274.

https://doi.org/10.1182/blood.2022017712

Published: 2023

Includes: Supplemental data

Journal Articles

Insights into Platelet-Megakaryocyte Biology through Next-Generation Sequencing

Kathleen Freson, PhD

Blood (2020) 136 (Supplement 1): SCI4.

https://doi.org/10.1182/blood-2020-133065

Published: 2020

Journal Articles

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

Matthew C. Sims, Louisa Mayer, Janine H. Collins, Tadbir K. Bariana, Karyn Megy, Cecile Lavenu-Bombled, Denis Seyres, Laxmikanth Kollipara, Frances S. Burden, Daniel Greene, Dave Lee, Antonio Rodriguez-Romera, Marie-Christine Alessi, William J. Astle, Wadie F. Bahou, Loredana Bury, Elizabeth Chalmers, Rachael Da Silva, Erica De Candia, Sri V. V. Deevi, Samantha Farrow, Keith Gomez, Luigi Grassi, Andreas Greinacher, Paolo Gresele, Dan Hart, Marie-Françoise Hurtaud, Anne M. Kelly, Ron Kerr, Sandra Le Quellec, Thierry Leblanc, Eva B. Leinøe, Rutendo Mapeta, Harriet McKinney, Alan D. Michelson, Sara Morais, Diane Nugent, Sofia Papadia, Soo J. Park, John Pasi, Gian Marco Podda, Man-Chiu Poon, Rachel Reed, Mallika Sekhar, Hanna Shalev, Suthesh Sivapalaratnam, Orna Steinberg-Shemer, Jonathan C. Stephens, Robert C. Tait, Ernest Turro, John K. M. Wu, Barbara Zieger, NIHR BioResource, Taco W. Kuijpers, Anthony D. Whetton, Albert Sickmann, Kathleen Freson, Kate Downes, Wendy N. Erber, Mattia Frontini, Paquita Nurden, Willem H. Ouwehand, Remi Favier, Jose A. Guerrero

Blood (2020) 136 (17): 1956–1967.

https://doi.org/10.1182/blood.2019004776

Published: 2020

Includes: Supplemental data

Journal Articles

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

Blood (2019) 134 (23): 2070–2081.

https://doi.org/10.1182/blood.2019000782

Published: 2019

Includes: Supplemental data

Journal Articles

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

Blood (2019) 134 (23): 2082–2091.

https://doi.org/10.1182/blood.2018891192

Published: 2019

Includes: Supplemental data

Journal Articles

Congenital Aspirin-like Defect As a Result of Autosomal Recessive Variants in PTGS1

Suthesh Sivapalaratnam, MD PhD, Hayman Melissa, PhD, Claire Lentaigne, BSc, MB, MRCP, Melissa Chan, PhD, Marilena Crescente, PhD, Harriet Allan, Katherine Wedderburn, Moghees Hanif, Ernest Turro, PhD, Dan P Hart, PhD MBBChir, FRCPath, FRCP, Kathleen Freson, PhD, Kate Downes, PhD, NIHR Bioresource, Willem Ouwehand, MDPhD, Michael Laffan, DM, FRCP, FRCPath, Tim Warner, PhD

Blood (2018) 132 (Supplement 1): 1156.

https://doi.org/10.1182/blood-2018-99-118958

Published: 2018

Journal Articles

Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice

Blood (2018) 132 (13): 1399–1412.

https://doi.org/10.1182/blood-2017-08-802769

Published: 2018

Includes: Supplemental data

Journal Articles

Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding

Blood (2017) 130 (8): 1026–1030.

https://doi.org/10.1182/blood-2017-03-776773

Published: 2017

Includes: Supplemental data

Journal Articles

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia

Blood (2017) 129 (4): 520–524.

https://doi.org/10.1182/blood-2016-08-732248

Published: 2017

Includes: Supplemental data

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

Allele-specific DNA methylation reinforces PEAR1 enhancer activity

Benedetta Izzi, Mariaelena Pistoni, Katrien Cludts, Pinar Akkor, Diether Lambrechts, Catherine Verfaillie, Peter Verhamme, Kathleen Freson, Marc F. Hoylaerts

Blood (2016) 128 (7): 1003–1012.

https://doi.org/10.1182/blood-2015-11-682153

Published: 2016

Includes: Supplemental data

Journal Articles

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

Blood (2016) 127 (23): 2903–2914.

https://doi.org/10.1182/blood-2015-10-675629

Published: 2016

Includes: Supplemental data

Journal Articles

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

Ilenia Simeoni, Jonathan C. Stephens, Fengyuan Hu, Sri V. V. Deevi, Karyn Megy, Tadbir K. Bariana, Claire Lentaigne, Sol Schulman, Suthesh Sivapalaratnam, Minka J. A. Vries, Sarah K. Westbury, Daniel Greene, Sofia Papadia, Marie-Christine Alessi, Antony P. Attwood, Matthias Ballmaier, Gareth Baynam, Emilse Bermejo, Marta Bertoli, Paul F. Bray, Loredana Bury, Marco Cattaneo, Peter Collins, Louise C. Daugherty, Rémi Favier, Deborah L. French, Bruce Furie, Michael Gattens, Manuela Germeshausen, Cedric Ghevaert, Anne C. Goodeve, Jose A. Guerrero, Daniel J. Hampshire, Daniel P. Hart, Johan W. M. Heemskerk, Yvonne M. C. Henskens, Marian Hill, Nancy Hogg, Jennifer D. Jolley, Walter H. Kahr, Anne M. Kelly, Ron Kerr, Myrto Kostadima, Shinji Kunishima, Michele P. Lambert, Ri Liesner, José A. López, Rutendo P. Mapeta, Mary Mathias, Carolyn M. Millar, Amit Nathwani, Marguerite Neerman-Arbez, Alan T. Nurden, Paquita Nurden, Maha Othman, Kathelijne Peerlinck, David J. Perry, Pawan Poudel, Pieter Reitsma, Matthew T. Rondina, Peter A. Smethurst, William Stevenson, Artur Szkotak, Salih Tuna, Christel van Geet, Deborah Whitehorn, David A. Wilcox, Bin Zhang, Shoshana Revel-Vilk, Paolo Gresele, Daniel B. Bellissimo, Christopher J. Penkett, Michael A. Laffan, Andrew D. Mumford, Augusto Rendon, Keith Gomez, Kathleen Freson, Willem H. Ouwehand, Ernest Turro

Blood (2016) 127 (23): 2791–2803.

https://doi.org/10.1182/blood-2015-12-688267

Published: 2016

Includes: Supplemental data

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

A Dominant Gain-of-Function Mutation in Universal Tyrosine Kinase SRC Causes Enhanced Podosome Formation in a Syndrome with Thrombocytopenia, Myelofibrosis, Bleeding and Bone Pathologies

Kathleen Freson, Ernest Turro, Willem Ouwehand, MD, PhD

Blood (2015) 126 (23): LBA-7.

https://doi.org/10.1182/blood.V126.23.LBA-7.LBA-7

Published: 2015

Journal Articles

PEAR1 attenuates megakaryopoiesis via control of the PI3K/PTEN pathway

Alexandre Kauskot, Christophe Vandenbriele, Sophie Louwette, Rik Gijsbers, Thomas Tousseyn, Kathleen Freson, Peter Verhamme, Marc F. Hoylaerts

Blood (2013) 121 (26): 5208–5217.

https://doi.org/10.1182/blood-2012-10-462887

Published: 2013

Includes: Supplemental data

Journal Articles

Effect of Single Nucleotide Polymorphism in the Gene RBM8A Together with the Microdeletion 1q21 in Thrombocytopenia-Absent Radii Syndrome.

Harald Schulze, PhD, Cornelis A Albers, Gabriele Strauss, Janine Fiedler, Markus Schmugge, Willem H Ouwehand, Kathleen Freson, Ruth Newbury-Ecob, Cedric Ghaevert, PhD

Blood (2012) 120 (21): 2372.

https://doi.org/10.1182/blood.V120.21.2372.2372

Published: 2012

Journal Articles

A novel mechanism of sustained platelet αIIbβ3 activation via PEAR1

Alexandre Kauskot, Michela Di Michele, Serena Loyen, Kathleen Freson, Peter Verhamme, Marc F. Hoylaerts

Blood (2012) 119 (17): 4056–4065.

https://doi.org/10.1182/blood-2011-11-392787

Published: 2012

Includes: Supplemental data

NARROW

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants

Turbulence Enhances Fine-Tuning of Mitochondria Delivery in Megakaryocyte Maturation Contributing to Biogenesis of High Quality Platelets

Ribosome dysfunction underlies SLFN14-related thrombocytopenia

Insights into Platelet-Megakaryocyte Biology through Next-Generation Sequencing

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

Congenital Aspirin-like Defect As a Result of Autosomal Recessive Variants in PTGS1

Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice

Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia

Clinical Next Generation Sequencing to Identify Novel Platelet Disorders

Allele-specific DNA methylation reinforces PEAR1 enhancer activity

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

Inherited platelet disorders: toward DNA-based diagnosis

A Dominant Gain-of-Function Mutation in Universal Tyrosine Kinase SRC Causes Enhanced Podosome Formation in a Syndrome with Thrombocytopenia, Myelofibrosis, Bleeding and Bone Pathologies

PEAR1 attenuates megakaryopoiesis via control of the PI3K/PTEN pathway

Effect of Single Nucleotide Polymorphism in the Gene RBM8A Together with the Microdeletion 1q21 in Thrombocytopenia-Absent Radii Syndrome.

A novel mechanism of sustained platelet αIIbβ3 activation via PEAR1

Email alerts

ASH Publications

American Society of Hematology

Email alerts

ASH Publications

American Society of Hematology

This Feature Is Available To Subscribers Only