Zobrazeno 1 - 10
of 111
pro vyhledávání: '"Adrianna Vlachos"'
Autor:
Alyssa L. Kennedy, Kasiani C. Myers, James Bowman, Christopher J. Gibson, Nicholas D. Camarda, Elissa Furutani, Gwen M. Muscato, Robert H. Klein, Kaitlyn Ballotti, Shanshan Liu, Chad E. Harris, Ashley Galvin, Maggie Malsch, David Dale, John M. Gansner, Taizo A. Nakano, Alison Bertuch, Adrianna Vlachos, Jeffrey M. Lipton, Paul Castillo, James Connelly, Jane Churpek, John R. Edwards, Nobuko Hijiya, Richard H. Ho, Inga Hofmann, James N. Huang, Siobán Keel, Adam Lamble, Bonnie W. Lau, Maxim Norkin, Elliot Stieglitz, Wendy Stock, Kelly Walkovich, Steffen Boettcher, Christian Brendel, Mark D. Fleming, Stella M. Davies, Edie A. Weller, Christopher Bahl, Scott L. Carter, Akiko Shimamura, R. Coleman Lindsley
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Understanding the molecular basis of leukaemia predisposition is essential for intervention. The authors here investigate germline genetic leukaemia predisposition by studying Shwachman-Diamond syndrome and report compensatory inactivating mutations
Externí odkaz:
https://doaj.org/article/911d91b30d4548af8f9e72d025592f4b
Autor:
Jeffrey M. Lipton, Christine L. S. Molmenti, Pooja Desai, Alexander Lipton, Steven R. Ellis, Adrianna Vlachos
Publikováno v:
Genes, Vol 13, Iss 1, p 56 (2021)
Diamond Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome, the founding member of a class of disorders known as ribosomopathies. Most cases result from loss of function mutations or deletions in 1 of 23 genes encoding either a sm
Externí odkaz:
https://doaj.org/article/da932a018e0a4690919f9d2a026ca68d
Autor:
D. Matthew Gianferante, Marcin W. Wlodarski, Evangelia Atsidaftos, Lydie Da Costa, Polyxeni Delaporta, Jason E. Farrar, Frederick D. Goldman, Maryam Hussain, Antonis Kattamis, Thierry Leblanc, Jeffrey M. Lipton, Charlotte M. Niemeyer, Dagmar Pospisilova, Paola Quarello, Ugo Ramenghi, Vijay G. Sankaran, Adrianna Vlachos, Jana Volejnikova, Blanche P. Alter, Sharon A. Savage, Neelam Giri
Publikováno v:
Haematologica, Vol 106, Iss 5 (2020)
Diamond Blackfan anemia (DBA) is predominantly an autosomal dominant inherited red cell aplasia primarily caused by pathogenic germline variants in ribosomal protein genes. DBA due to pathogenic RPL35A variants has been associated with large 3q29 del
Externí odkaz:
https://doaj.org/article/6dcaa279444c45d49f67d28d56e40b5d
Autor:
Zora R. Rogers, Taizo A. Nakano, Timothy S. Olson, Alison A. Bertuch, Winfred Wang, Alfred Gillio, Thomas D. Coates, Anjulika Chawla, Paul Castillo, Peter Kurre, Christopher Gamper, Carolyn M. Bennett, Sarita Joshi, Amy E. Geddis, Jessica Boklan, Grzegorz Nalepa, Jennifer A. Rothman, James N. Huang, Gary M. Kupfer, Michaela Cada, Bertil Glader, Kelly J. Walkovich, Alexis A. Thompson, Rabi Hanna, Adrianna Vlachos, Maggie Malsch, Edie A. Weller, David A. Williams, Akiko Shimamura
Publikováno v:
Haematologica, Vol 104, Iss 10 (2019)
Quality of response to immunosuppressive therapy and long-term outcomes for pediatric severe aplastic anemia remain incompletely characterized. Contemporary evidence to inform treatment of relapsed or refractory severe aplastic anemia for pediatric p
Externí odkaz:
https://doaj.org/article/e30ee0ec051d4c8a8105c5d827063f09
Autor:
Akiko Shimamura, Alexey Maschan, Carolyn Bennett, Jason E Farrar, Sujith Samarasinghe, Brigitte Strahm, Winfred C. Wang, Adrianna Vlachos, Charlotte M. Niemeyer, Timothy S. Olson, Denise D'Alessio, Elise Burmeister Getz, Tomasz Lawniczek, Yunnan Xu, David A. Williams
Publikováno v:
Blood. 140:705-707
Autor:
Winfred C. Wang, Ashley Galvin, Maggie Malsch, Rabi Hanna, Kasiani C. Myers, Edie Weller, Leann Mount, Bonnie W Lau, Kelan Queenan, Robert B. Lorsbach, Taizo A. Nakano, Adrianna Vlachos, Shanshan Liu, Mark D. Fleming, Sarah K. Steltz, Stella M. Davies, Jordan Henry Larson, Sara Loveless, Akiko Shimamura, Elissa Furutani, Sioban Keel, Amy E. Geddis, John M. Gansner, Alison A. Bertuch, Jeffrey M. Lipton
Publikováno v:
Blood Advances
Key Points Severe bone marrow failure was primarily observed in early childhood in children with biallelic SBDS mutations.Absolute neutrophil counts were positively associated with age (P < .0001) in patients with biallelic SBDS mutations.
Visua
Visua
Autor:
Hisham Abdel-Azim, Suchitra S. Acharya, Anurag K. Agrawal, Maha Al-Ghafry, Carl E. Allen, Seema Amin, Mark P. Atlas, Rochelle Bagatell, Lionel Blanc, Francine Blei, James B. Bussel, William L. Carroll, James A. Connelly, Jeffrey S. Dome, Brian M. Dulmovits, Olive S. Eckstein, Caitlin W. Elgarten, Mohamed Tarek Elghetany, Noah Federman, Carolyn Fein Levy, James Feusner, Jonathan D. Fish, Adriana Fonseca, Jason L. Freedman, Debra L. Friedman, Derek Hanson, Nobuko Hijiya, Inga Hofmann, Mary S. Huang, Ionela Iacobas, Cassandra D. Josephson, Rachel Kessel, Eugene Khandros, Julie Krystal, Janet L. Kwiatkowski, Philip Lanzkowsky, Ann Leahey, Jeffrey M. Lipton, Catherine McGuinn, Rajen J. Mody, Amy Nadel, Michelle Nash, Omar Niss, Thomas A. Olson, Pallavi M. Pillai, Jacquelyn M. Powers, Josef T. Prchal, Michael A. Pulsipher, Charles T. Quinn, Miriam Radinsky, Arlene Redner, Susan R. Rheingold, Susmita N. Sarangi, Amish Shah, Jordan A. Shavit, Christine M. Smith, Elizabeth Sokol, Kathryn S. Sutton, Tsewang Tashi, David T. Teachey, Anshul Vagrecha, Adrianna Vlachos, Kelly Walkovich, Anne B. Warwick, Howard J. Weinstein, Katrina Winsnes, Lawrence C. Wolfe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9d9ce43d5bfb90ec0781092e5f0e1210
https://doi.org/10.1016/b978-0-12-821671-2.00046-5
https://doi.org/10.1016/b978-0-12-821671-2.00046-5
Autor:
Jana Volejnikova, Dagmar Pospisilova, Blanche P. Alter, Sharon A. Savage, Marcin W. Wlodarski, Antonis Kattamis, Polyxeni Delaporta, Paola Quarello, D. Matthew Gianferante, Thierry Leblanc, Ugo Ramenghi, Adrianna Vlachos, Jeffrey M. Lipton, Frederick D. Goldman, Evangelia Atsidaftos, Maryam Hussain, Lydie Da Costa, Vijay G. Sankaran, Charlotte M. Niemeyer, Neelam Giri, Jason E. Farrar
Publikováno v:
Haematologica. 106:1303-1310
Diamond Blackfan anemia (DBA) is predominantly an autosomal dominant inherited red cell aplasia primarily caused by pathogenic germline variants in ribosomal protein genes. DBA due to pathogenic RPL35A variants has been associated with large 3q29 del
Autor:
Katie Bergstrom, Yigal Dror, Kathleen Overholt, Melissa J. Rose, Paul Castillo, Beth A Carella, Kristin A. Shimano, Bonnie W Lau, James N. Huang, Larisa Broglie, Evan Shereck, Steven W. Allen, Timothy S. Olson, Jessica Boklan, Anupama Narla, Catherine E. McGuinn, Taizo A. Nakano, Adrianna Vlachos, Marcin W. Wlodarski, Amy E. Geddis, Nicholas J. Gloude, Jill L. O. de Jong, Anjali Sharathkumar, Jennifer A. Rothman, Akiko Shimamura, Alison A. Bertuch
Publikováno v:
American journal of hematologyREFERENCES. 96(11)
The North American Pediatric Aplastic Anemia Consortium (NAPAAC) is a group of pediatric hematologist-oncologists, hematopathologists, and bone marrow transplant physicians from 46 institutions in North America with interest and expertise in aplastic