1-11 of 11
heterozygote
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

Single- and double-hit events in genes encoding immune targets before and after T cell–engaging antibody therapy in MM

Marietta S. Truger, Johannes Duell, Xiang Zhou, Larissa Heimeshoff, Anna Ruckdeschel, Mara John, Angela Riedel, Sebastian Hüper, Jessica Peter, Wencke Walter, Larissa Haertle, Manja Meggendorfer, Max S. Topp, Andreas Rosenwald, Matteo Claudio Da Via, Niccolo Bolli, Niels Weinhold, Hermann Einsele, Claudia Haferlach, K. Martin Kortüm, Leo Rasche
Journal: Blood Advances
Blood Adv (2021) 5 (19): 3794–3798.
https://doi.org/10.1182/bloodadvances.2021004418
Published: 2021
Includes: Supplemental data
Journal Articles

Molecular analysis of the erythroid phenotype of a patient with BCL11A haploinsufficiency

Clinical Trials & Observations
Marja W. Wessels, Marjon H. Cnossen, Thamar B. van Dijk, Nynke Gillemans, K. L. Juliëtte Schmidt, Kirsten van Lom, Divya S. Vinjamur, Steven Coyne, Ryo Kurita, Yukio Nakamura, Stella A. de Man, Rolph Pfundt, Zakia Azmani, Rutger W. W. Brouwer, Daniel E. Bauer, Mirjam C. G. N. van den Hout, Wilfred F. J. van IJcken, Sjaak Philipsen
Journal: Blood Advances
Blood Adv (2021) 5 (9): 2339–2349.
https://doi.org/10.1182/bloodadvances.2020003753
Published: 2021
Includes: Supplemental data
Journal Articles

Noncanonical type 2B von Willebrand disease associated with mutations in the VWF D′D3 and D4 domains

Monica Sacco, Stefano Lancellotti, Mattia Ferrarese, Francesco Bernardi, Mirko Pinotti, Maira Tardugno, Erica De Candia, Leonardo Di Gennaro, Maria Basso, Betti Giusti, Massimiliano Papi, Giordano Perini, Giancarlo Castaman, Raimondo De Cristofaro
Journal: Blood Advances
Blood Adv (2020) 4 (14): 3405–3415.
https://doi.org/10.1182/bloodadvances.2020002334
Published: 2020
Includes: Supplemental data
Journal Articles

Characterization of large in-frame von Willebrand factor deletions highlights differing pathogenic mechanisms

Ashley Cartwright, Simon J. Webster, Annika de Jong, Richard J. Dirven, Lisa D. S. Bloomer, Ahlam M. AL-Buhairan, Ulrich Budde, Christer Halldén, David Habart, Jenny Goudemand, Ian R. Peake, Jeroen C. J. Eikenboom, Anne C. Goodeve, Daniel J. Hampshire
Journal: Blood Advances
Blood Adv (2020) 4 (13): 2979–2990.
https://doi.org/10.1182/bloodadvances.2018027813
Published: 2020
Includes: Supplemental data
Journal Articles

Flow studies on human GPVI-deficient blood under coagulating and noncoagulating conditions

Magdolna Nagy, Gina Perrella, Amanda Dalby, M. Francisca Becerra, Lourdes Garcia Quintanilla, Jeremy A. Pike, Neil V. Morgan, Elizabeth E. Gardiner, Johan W. M. Heemskerk, Lorena Azócar, Juan Francisco Miquel, Diego Mezzano, Steve P. Watson
Journal: Blood Advances
Blood Adv (2020) 4 (13): 2953–2961.
https://doi.org/10.1182/bloodadvances.2020001761
Published: 2020
Includes: Supplemental data
Journal Articles

Germline heterozygous mutations in Nxf1 perturb RNA metabolism and trigger thrombocytopenia and lymphopenia in mice

Stéphane Chappaz, Charity W. Law, Mark R. Dowling, Kirstyn T. Carey, Rachael M. Lane, Linh H. Ngo, Vihandha O. Wickramasinghe, Gordon K. Smyth, Matthew E. Ritchie, Benjamin T. Kile
Journal: Blood Advances
Blood Adv (2020) 4 (7): 1270–1283.
https://doi.org/10.1182/bloodadvances.2019001323
Published: 2020
Includes: Supplemental data
Journal Articles

Distinct clinical and biological implications of CUX1 in myeloid neoplasms

Mai Aly, Zubaidah M. Ramdzan, Yasunobu Nagata, Suresh K. Balasubramanian, Naoko Hosono, Hideki Makishima, Valeria Visconte, Teodora Kuzmanovic, Vera Adema, Aziz Nazha, Bartlomiej P. Przychodzen, Cassandra M. Kerr, Mikkael A. Sekeres, Mohamed E. Abazeed, Alain Nepveu, Jaroslaw P. Maciejewski
Journal: Blood Advances
Blood Adv (2019) 3 (14): 2164–2178.
https://doi.org/10.1182/bloodadvances.2018028423
Published: 2019
Includes: Supplemental data
Journal Articles

GATA2 deficiency and human hematopoietic development modeled using induced pluripotent stem cells

Moonjung Jung, Stefan Cordes, Jizhong Zou, Shiqin J. Yu, Xavi Guitart, So Gun Hong, Vinh Dang, Elaine Kang, Flavia S. Donaires, Sergio A. Hassan, Maher Albitar, Amy P. Hsu, Steven M. Holland, Dennis D. Hickstein, Danielle Townsley, Cynthia E. Dunbar, Thomas Winkler
Journal: Blood Advances
Blood Adv (2018) 2 (23): 3553–3565.
https://doi.org/10.1182/bloodadvances.2018017137
Published: 2018
Includes: Supplemental data
Journal Articles

Carfilzomib-induced aHUS responds to early eculizumab and may be associated with heterozygous CFHR3-CFHR1 deletion

Clinical Trials & Observations
Andrew Jay Portuguese, Brea Lipe
Journal: Blood Advances
Blood Adv (2018) 2 (23): 3443–3446.
https://doi.org/10.1182/bloodadvances.2018027532
Published: 2018
Journal Articles

Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms

Judith C. W. Marsh, Fernanda Gutierrez-Rodrigues, James Cooper, Jie Jiang, Shreyans Gandhi, Sachiko Kajigaya, Xingmin Feng, Maria del Pilar F. Ibanez, Flávia S. Donaires, João P. Lopes da Silva, Zejuan Li, Soma Das, Maria Ibanez, Alexander E. Smith, Nicholas Lea, Steven Best, Robin Ireland, Austin G. Kulasekararaj, Donal P. McLornan, Anthony Pagliuca, Isabelle Callebaut, Neal S. Young, Rodrigo T. Calado, Danielle M. Townsley, Ghulam J Mufti
Journal: Blood Advances
Blood Adv (2018) 2 (1): 36–48.
https://doi.org/10.1182/bloodadvances.2017008110
Published: 2018
Includes: Supplemental data
Journal Articles

Hemoglobin variants identified in the Uganda Sickle Surveillance Study

Global Advances
Beverly A. Schaefer, Charles Kiyaga, Thad A. Howard, Grace Ndeezi, Arielle G. Hernandez, Isaac Ssewanyana, Mary C. Paniagua, Christopher M. Ndugwa, Jane R. Aceng, Russell E. Ware
Journal: Blood Advances
Blood Adv (2016) 1 (1): 93–100.
https://doi.org/10.1182/bloodadvances.2016000950
Published: 2016
Includes: Supplemental data