1-5 of 5
Alyson W. MacInnes
Close
Save search
Follow your search
Access your saved searches in your account
Would you like to receive an alert when new items match your search?
Close Modal
Sort by
Journal Articles

HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia

Marie-Françoise O’Donohue, Lydie Da Costa, Marco Lezzerini, Sule Unal, Clément Joret, Marije Bartels, Eva Brilstra, Marijn Scheijde-Vermeulen, Ludivine Wacheul, Kim De Keersmaecker, Stijn Vereecke, Veerle Labarque, Manon Saby, Sophie D. Lefevre, Jessica Platon, Nathalie Montel-Lehry, Nathalie Laugero, Eric Lacazette, Koen van Gassen, Riekelt H. Houtkooper, Pelin Ozlem Simsek-Kiper, Thierry Leblanc, Nese Yarali, Arda Cetinkaya, Nurten A. Akarsu, Pierre-Emmanuel Gleizes, Denis L. J. Lafontaine, Alyson W. MacInnes
Journal: Blood
Blood (2022) 139 (21): 3111–3126.
https://doi.org/10.1182/blood.2021011846
Published: 2022
Includes: Supplemental data
Journal Articles

A Small Nucleolar RNA Linked to Diamond-Blackfan Anemia

Adeline Mayeux, Nathalie Montel-Lehry, Manon Saby, Aurore Anton, Narjesse Karboul, Julie Galimand, Helene Bourdeau, Jonathan Levy, Anne-claude Tabet, Mohandas Narla, DSc, Alyson W. MacInnes, Pascale Dufourcq, Patrick Blader, Thierry Leblanc, Marie-francoise O' Donohue, Pierre-Emmanuel Gleizes, Lydie Da Costa
Journal: Blood
Blood (2018) 132 (Supplement 1): 1299.
https://doi.org/10.1182/blood-2018-99-110663
Published: 2018
Journal Articles

Mutations in Ribosomal Protein Genes L9 and L15 Link to DBA with Specific Clinical Phenotypes

Marcin W. Wlodarski, MD PhD, Lydie M. Da Costa, MD PhD, Marie-Francoise O'-Donohue, Marc Gastou, Ina Hainmann, Enikoe Amina Szvetnik, Thierry Leblanc, MD, Marc Bierings, MD PhD, Nathalie Montel-Lehry, Hannah Tamary, MD, Charlotte M. Niemeyer, MD, Pierre-Emmanuel Gleizes, Alyson W. MacInnes
Journal: Blood
Blood (2017) 130 (Supplement 1): 1172.
https://doi.org/10.1182/blood.V130.Suppl_1.1172.1172
Published: 2017
Journal Articles

Diamond-Blackfan Anemia Phenotype Caused By Deficiency of Adenosine Deaminase 2

Enikoe Amina Szvetnik, Christian Klemann, Ina Hainmann, Marie-Francoise O'-Donohue, Tamás Farkas, Marena Niewisch, Regine Grosse, MD, Gabriele Escherich, MD, Sule Unal, Naz Guleray, Muge Gokce, Lydie Da Costa, Thierry LeBlanc, MD, Hélène Dollfus, Eusebia Lara-Villacanas, Thomas Wiesel, Victor Pastor Loyola, MSc, Sushree Sangita Sahoo, M.Sc., Doris Steinemann, PhD, Myriam Lorenz, Klaus Schwarz, Stephan Ehl, Michael Hershfield, Pierre-Emmanuel Gleizes, Charlotte M. Niemeyer, MD, Alyson W. MacInnes, Marcin W. Wlodarski, MD PhD
Journal: Blood
Blood (2017) 130 (Supplement 1): 874.
https://doi.org/10.1182/blood.V130.Suppl_1.874.874
Published: 2017
Journal Articles

A zebrafish model of dyskeratosis congenita reveals hematopoietic stem cell formation failure resulting from ribosomal protein-mediated p53 stabilization

Tamara C. Pereboom, Linda J. van Weele, Albert Bondt, Alyson W. MacInnes
Journal: Blood
Blood (2011) 118 (20): 5458–5465.
https://doi.org/10.1182/blood-2011-04-351460
Published: 2011
Includes: Supplemental data