Zobrazeno 1 - 10
of 215
pro vyhledávání: '"Kathleen, Freson"'
Publikováno v:
TH Open, Vol 08, Iss 02, Pp e177-e180 (2024)
Externí odkaz:
https://doaj.org/article/e2d34f45ab864e06b7a5bf35164b6822
Autor:
Ibrahim Almazni, Pavel Chudakou, Alison Dawson-Meadows, Kate Downes, Kathleen Freson, Joanne Mason, Paula Page, Kim Reay, Bethan Myers, Neil V Morgan
Publikováno v:
Platelets, Vol 33, Iss 2, Pp 320-323 (2022)
Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM) is a rare inherited disorder confirmed with the presence of a pathogenic germline RUNX1 variant and is thought to be heavily underdiagnosed. RUNX1 has also been found to be mutated
Externí odkaz:
https://doaj.org/article/bf5293d1d2774c9a91b06015384ba76f
Autor:
Kathleen Freson
Publikováno v:
Haematologica, Vol 108, Iss 3 (2022)
Externí odkaz:
https://doaj.org/article/ff817c9901284388bf8610692c959019
Autor:
Lore De Kock, Chantal Thys, Kate Downes, Daniel Duarte, Karyn Megy, Chris Van Geet, Kathleen Freson
Publikováno v:
Platelets, Vol 30, Iss 7, Pp 931-934 (2019)
A germline heterozygous gain-of-function p.E527K variant in tyrosine kinase SRC was previously found to cause thrombocytopenia, myelofibrosis, bleeding, bone pathologies, premature edentulism and mild facial dysmorphia in nine patients of a single pe
Externí odkaz:
https://doaj.org/article/a2de273c57d64b8bad292b81fce6411f
Publikováno v:
Research and Practice in Thrombosis and Haemostasis, Vol 3, Iss 4, Pp 566-577 (2019)
Abstract Autism spectrum disorder (ASD) is a clinically heterogeneous neurodevelopmental disorder that is caused by gene‐environment interactions. To improve its diagnosis and treatment, numerous efforts have been undertaken to identify reliable bi
Externí odkaz:
https://doaj.org/article/7cf875eacf8e4a6285b3871d84c30ed2
Publikováno v:
Research and Practice in Thrombosis and Haemostasis, Vol 5, Iss 8, Pp n/a-n/a (2021)
Abstract This review is focused on genetic regulators of bleeding and thrombosis with a focus on next‐generation sequencing (NGS) technologies for diagnosis and research of patients with inherited disorders. The molecular diagnosis of hemostatic ph
Externí odkaz:
https://doaj.org/article/a65f08f48b4f418393f31ca62e7ad71b
Autor:
José M. Bastida, Stefano Malvestiti, Doris Boeckelmann, Verónica Palma-Barqueros, Mira Wolter, María L. Lozano, Hannah Glonnegger, Rocío Benito, Carlo Zaninetti, Felix Sobotta, Freimut H. Schilling, Neil V. Morgan, Kathleen Freson, José Rivera, Barbara Zieger
Publikováno v:
Cells, Vol 11, Iss 20, p 3223 (2022)
The GATA1 transcription factor is essential for normal erythropoiesis and megakaryocytic differentiation. Germline GATA1 pathogenic variants in the N-terminal zinc finger (N-ZF) are typically associated with X-linked thrombocytopenia, platelet dysfun
Externí odkaz:
https://doaj.org/article/f0d19dacc42049e4a460cf0a87e336a5
Autor:
Lore De Kock, Fabienne Ver Donck, Chantal Thys, Anouck Wijgaerts, Koji Eto, Chris Van Geet, Kathleen Freson
Publikováno v:
Haematologica, Vol 106, Iss 12 (2021)
Externí odkaz:
https://doaj.org/article/0f1be144961043688a7e04b7cb4c5c57
Autor:
Sriram Krishnaswamy, Walter Ageno, Yaseen Arabi, Tiziano Barbui, Suzanne Cannegieter, Marc Carrier, Audrey C. Cleuren, Peter Collins, Laurence Panicot‐Dubois, Jane E. Freedman, Kathleen Freson, Philip Hogg, Andra H. James, Colin A. Kretz, Michelle Lavin, Frank W. G. Leebeek, Weikai Li, Coen Maas, Kellie Machlus, Michael Makris, Ida Martinelli, Leonid Medved, Marguerite Neerman‐Arbez, James S. O’Donnell, Jamie O'Sullivan, Madhvi Rajpurkar, Verena Schroeder, Paul Clinton Spiegel Jr, Simon J. Stanworth, Laura Green, Anetta Undas
Publikováno v:
Research and Practice in Thrombosis and Haemostasis, Vol 5, Iss 5, Pp n/a-n/a (2021)
Abstract This year's Congress of the International Society of Thrombosis and Haemostasis (ISTH) was hosted virtually from Philadelphia July 17–21, 2021. The conference, now held annually, highlighted cutting‐edge advances in basic, population and
Externí odkaz:
https://doaj.org/article/f4e8d27c7559432aabed3d4087dfb05b
Autor:
Carlo Balduini, Kathleen Freson, Andreas Greinacher, Paolo Gresele, Thomas Kühne, Marie Scully, Tamam Bakchoul, Paul Coppo, Tadeja Dovc Drnovsek, Bertrand Godeau, Yves Gruel, A. Koneti Rao, Johanna A. Kremer Hovinga, Michael Makris, Axel Matzdorff, Andrew Mumford, Alessandro Pecci, Hana Raslova, José Rivera, Irene Roberts, Rüdiger E. Scharf, John W. Semple, Christel Van Geet
Publikováno v:
HemaSphere, Vol 5, Iss 7, p e601 (2021)
Externí odkaz:
https://doaj.org/article/8ba7f6d7312943fe8b0edeb9f8b14afc