Zobrazeno 1 - 10
of 887
pro vyhledávání: '"N Hahn"'
Autor:
J Sanders, TD de Gruijl, HWM van Laarhoven, J Van den Bossche, S Derks, EN Bos, N Hahn, I Nijman, DL van der Peet
Publikováno v:
Journal for ImmunoTherapy of Cancer, Vol 12, Iss Suppl 1 (2024)
Externí odkaz:
https://doaj.org/article/c7e189c970d54a5e8e7e56d505da627f
Autor:
Parvathy Venugopal, Lucia Gagliardi, Cecily Forsyth, Jinghua Feng, Kerry Phillips, Milena Babic, Nicola K. Poplawski, Hugh Young Rienhoff, Andreas W. Schreiber, Christopher N. Hahn, Anna L. Brown, Hamish S. Scott
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-5 (2020)
Abstract Background We report a large family with four successive generations, presenting with a complex phenotype of severe congenital neutropenia (SCN), partially penetrant monocytosis, and hearing loss of varying severity. Methods We performed who
Externí odkaz:
https://doaj.org/article/c6216fddb0d34c3da737937059041417
Autor:
Elspeth M. Milne, R. Scott Pirie, Caroline N. Hahn, Jorge del‐Pozo, Dawn Drummond, Sharon Moss, Bruce C. McGorum
Publikováno v:
Journal of Veterinary Internal Medicine, Vol 33, Iss 5, Pp 2302-2311 (2019)
Abstract Background Equine dysautonomia (ED) causes degeneration and loss of autonomic neurons. Approximately 50% of chronic cases recover, but it is unclear how they survive neuronal loss. Objectives To assess lesions, autonomic neuron numbers, inte
Externí odkaz:
https://doaj.org/article/aec9dac9a7b14a7ab444d597f529853e
Autor:
Saumya E. Samaraweera, Tatjana Geukens, Debora A. Casolari, Tran Nguyen, Caitlyn Sun, Sheree Bailey, Sarah Moore, Jinghua Feng, Andreas W. Schreiber, Wendy T. Parker, Anna L. Brown, Carolyn Butcher, Peter G. Bardy, Michael Osborn, Hamish S. Scott, Dipti Talaulikar, Carolyn S. Grove, Christopher N. Hahn, Richard J. D'Andrea, David M. Ross
Publikováno v:
Pathology. 55:77-85
Refereed/Peer-reviewed The identification of a somatic mutation associated with myeloid malignancy is of diagnostic importance in myeloproliferative neoplasms (MPNs). Individuals with no mutation detected in common screening tests for variants in JAK
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::179f391d9840838f51051dcf2a1689a7
https://doi.org/10.1016/j.pathol.2022.05.015
https://doi.org/10.1016/j.pathol.2022.05.015
Autor:
D. A. Casolari, T. Nguyen, C. M. Butcher, D. G. Iarossi, C. N. Hahn, S. C. Bray, P. Neufing, W. T. Parker, J. Feng, K. Z. Y. Maung, A. Wee, L. Vidovic, C. H. Kok, P. G. Bardy, S. Branford, I. D. Lewis, S. W. Lane, H. S. Scott, D. M. Ross, R. J. D’Andrea
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
Abstract We describe a novel ERBB1/EGFR somatic mutation (p. C329R; c.985 T > C) identified in a patient with JAK2V617F Polycythaemia Vera (PV). This substitution affects a conserved cysteine residue in EGFR domain 2 and leads to the formation of a l
Externí odkaz:
https://doaj.org/article/b3f3e98ac3f74378a5acf9fa8bc21d11
Publikováno v:
Current Hematologic Malignancy Reports. 17:254-265
Refereed/Peer-reviewed Purpose of Review: Therapy-related myeloid neoplasms (t-MNs) are aggressive leukemias that develop following exposure to DNA-damaging agents. A subset of patients developing t-MN may have an inherited susceptibility to develop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::091f8475cc89bc0064b2689b60227ec9
https://doi.org/10.1007/s11899-022-00676-2
https://doi.org/10.1007/s11899-022-00676-2
Akademický článek
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Allogeneic Hematopoietic Stem Cell Transplant Outcomes in Adults with Inherited Myeloid Malignancies
Autor:
Caner Saygin, Gregory Roloff, Christopher N. Hahn, Rakchha Chhetri, Saar Gill, Hany Elmariah, Chetasi Talati, Emma Nunley, Guimin Gao, Aelin Kim, Michael Bishop, Satyajit Kosuri, Soma Das, Deepak Singhal, Parvathy Venugopal, Claire C. Homan, Anna Brown, Hamish S. Scott, Devendra Hiwase, Lucy A. Godley
Publikováno v:
Blood. 140:10542-10544
There is increasing recognition that pathogenic germ line variants drive the development of hematopoietic cancers in many individuals. Currently, patients with hereditary hematologic malignancies (HHMs) receive similar standard therapies and hematopo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1fb3e6bfd2c9a78a4988dedb6620dac
https://doi.org/10.1182/blood-2022-167098
https://doi.org/10.1182/blood-2022-167098
Publikováno v:
Genetics in Medicine. 24:931-954
Refereed/Peer-reviewed Purpose: The American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines for germline variant interpretation are implemented as a broad framework by standardizing variant interpretat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb43b0ce0a996894a819f312b25b45cc
https://doi.org/10.1016/j.gim.2021.12.008
https://doi.org/10.1016/j.gim.2021.12.008
Autor:
King-Hwa Ling, Peter J. Brautigan, Sarah Moore, Rachel Fraser, Melody Pui-Yee Leong, Jia-Wen Leong, Shahidee Zainal Abidin, Han-Chung Lee, Pike-See Cheah, Joy M. Raison, Milena Babic, Young Kyung Lee, Tasman Daish, Deidre M. Mattiske, Jeffrey R. Mann, David L. Adelson, Paul Q. Thomas, Christopher N. Hahn, Hamish S. Scott
Publikováno v:
Data in Brief, Vol 7, Iss , Pp 282-290 (2016)
SRY (Sex Determining Region Y)-Box 4 or Sox4 is an important regulator of the pan-neuronal gene expression during post-mitotic cell differentiation within the mammalian brain. Sox4 gene locus has been previously characterized with multiple sense and
Externí odkaz:
https://doaj.org/article/ea591298c5df4a6fbe4d101bb14cc4aa