Search Results - "Vlachos, Adrianna"

How I treat Diamond-Blackfan anemia by Vlachos, Adrianna, Muir, Ellen

“…Diamond-Blackfan anemia (DBA) is characterized by red cell failure, the presence of congenital anomalies, and cancer predisposition. In addition to being an…”
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Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry by Vlachos, Adrianna, Rosenberg, Philip S., Atsidaftos, Eva, Alter, Blanche P., Lipton, Jeffrey M.

“…Diamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by red cell aplasia and congenital anomalies. A predisposition to…”
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Increased risk of colon cancer and osteogenic sarcoma in Diamond-Blackfan anemia by Vlachos, Adrianna, Rosenberg, Philip S., Atsidaftos, Eva, Kang, Jessica, Onel, Kenan, Sharaf, Ravi N., Alter, Blanche P., Lipton, Jeffrey M.

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Somatic mutations and clonal hematopoiesis in congenital neutropenia by Xia, Jun, Miller, Christopher A., Baty, Jack, Ramesh, Amrita, Jotte, Matthew R.M., Fulton, Robert S., Vogel, Tiphanie P., Cooper, Megan A., Walkovich, Kelly J., Makaryan, Vahagn, Bolyard, Audrey A., Dinauer, Mary C., Wilson, David B., Vlachos, Adrianna, Myers, Kasiani C., Rothbaum, Robert J., Bertuch, Alison A., Dale, David C., Shimamura, Akiko, Boxer, Laurence A., Link, Daniel C.

“…Severe congenital neutropenia (SCN) and Shwachman-Diamond syndrome (SDS) are congenital neutropenia syndromes with a high rate of leukemic transformation…”
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Immunosuppressive therapy for pediatric aplastic anemia: a North American Pediatric Aplastic Anemia Consortium study by Rogers, Zora R, Nakano, Taizo A, Olson, Timothy S, Bertuch, Alison A, Wang, Winfred, Gillio, Alfred, Coates, Thomas D, Chawla, Anjulika, Castillo, Paul, Kurre, Peter, Gamper, Christopher, Bennett, Carolyn M, Joshi, Sarita, Geddis, Amy E, Boklan, Jessica, Nalepa, Grzegorz, Rothman, Jennifer A, Huang, James N, Kupfer, Gary M, Cada, Michaela, Glader, Bertil, Walkovich, Kelly J, Thompson, Alexis A, Hanna, Rabi, Vlachos, Adrianna, Malsch, Maggie, Weller, Edie A, Williams, David A, Shimamura, Akiko

“…Quality of response to immunosuppressive therapy and long-term outcomes for pediatric severe aplastic anemia remain incompletely characterized. Contemporary…”
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Ribosomal protein gene deletions in Diamond-Blackfan anemia by Farrar, Jason E., Vlachos, Adrianna, Atsidaftos, Eva, Carlson-Donohoe, Hannah, Markello, Thomas C., Arceci, Robert J., Ellis, Steven R., Lipton, Jeffrey M., Bodine, David M.

“…Diamond-Blackfan anemia (DBA) is a congenital BM failure syndrome characterized by hypoproliferative anemia, associated physical abnormalities, and a…”
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Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia by Doherty, Leana, Sheen, Mee Rie, Vlachos, Adrianna, Choesmel, Valerie, O'Donohue, Marie-Françoise, Clinton, Catherine, Schneider, Hal E., Sieff, Colin A., Newburger, Peter E., Ball, Sarah E., Niewiadomska, Edyta, Matysiak, Michal, Glader, Bertil, Arceci, Robert J., Farrar, Jason E., Atsidaftos, Eva, Lipton, Jeffrey M., Gleizes, Pierre-Emmanuel, Gazda, Hanna T.

“…Diamond-Blackfan anemia (DBA), an inherited bone marrow failure syndrome characterized by anemia that usually presents before the first birthday or in early…”
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The ribosomal basis of diamond-blackfan anemia: mutation and database update by Boria, Ilenia, Garelli, Emanuela, Gazda, Hanna T., Aspesi, Anna, Quarello, Paola, Pavesi, Elisa, Ferrante, Daniela, Meerpohl, Joerg J., Kartal, Mutlu, Da Costa, Lydie, Proust, Alexis, Leblanc, Thierry, Simansour, Maud, Dahl, Niklas, Fröjmark, Anne-Sophie, Pospisilova, Dagmar, Cmejla, Radek, Beggs, Alan H., Sheen, Mee R., Landowski, Michael, M. Buros, Christopher, M. Clinton, Catherine, J. Dobson, Lori, Vlachos, Adrianna, Atsidaftos, Eva, Lipton, Jeffrey M., Ellis, Steven R., Ramenghi, Ugo, Dianzani, Irma

“…Diamond‐Blackfan Anemia (DBA) is characterized by a defect of erythroid progenitors and, clinically, by anemia and malformations. DBA exhibits an autosomal…”
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Diamond Blackfan anemia: a model for the translational approach to understanding human disease by Vlachos, Adrianna, Blanc, Lionel, Lipton, Jeffrey M

“…Diamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome. As with the other rare inherited bone marrow failure syndromes, the study of these…”
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Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A by Gianferante, Matthew D, Wlodarski, Marcin W, Atsidaftos, Evangelia, Da Costa, Lydie, Delaporta, Polyxeni, Farrar, Jason E, Goldman, Frederick D, Hussain, Maryam, Kattamis, Antonis, Leblanc, Thierry, Lipton, Jeffrey M, Niemeyer, Charlotte M, Pospisilova, Dagmar, Quarello, Paola, Ramenghi, Ugo, Sankaran, Vijay G, Vlachos, Adrianna, Volejnikova, Jana, Alter, Blanche P, Savage, Sharon A, Giri, Neelam

“…Diamond Blackfan anemia (DBA) is predominantly an autosomal dominant inherited red cell aplasia primarily caused by pathogenic germline variants in ribosomal…”
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Molecular convergence in ex vivo models of Diamond-Blackfan anemia by O'Brien, Kelly A., Farrar, Jason E., Vlachos, Adrianna, Anderson, Stacie M., Tsujiura, Crystiana A., Lichtenberg, Jens, Blanc, Lionel, Atsidaftos, Eva, Elkahloun, Abdel, An, Xiuli, Ellis, Steven R., Lipton, Jeffrey M., Bodine, David M.

“…Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome characterized by erythroid hypoplasia, usually without perturbation of other…”
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Clinical utility gene card for: Diamond-Blackfan anemia--update 2013 by Vlachos, Adrianna, Dahl, Niklas, Dianzani, Irma, Lipton, Jeffrey M

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Exploiting pre‐rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis by Farrar, Jason E., Quarello, Paola, Fisher, Ross, O'Brien, Kelly A., Aspesi, Anna, Parrella, Sara, Henson, Adrianna L., Seidel, Nancy E., Atsidaftos, Eva, Prakash, Supraja, Bari, Shahla, Garelli, Emanuela, Arceci, Robert J., Dianzani, Irma, Ramenghi, Ugo, Vlachos, Adrianna, Lipton, Jeffrey M., Bodine, David M., Ellis, Steven R.

“…Diamond Blackfan anemia (DBA), a syndrome primarily characterized by anemia and physical abnormalities, is one among a group of related inherited bone marrow…”
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Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: An update from the Diamond Blackfan Anemia Registry by Lipton, Jeffrey M., Atsidaftos, Eva, Zyskind, Israel, Vlachos, Adrianna

“…Diamond Blackfan anemia (DBA) is a heterogeneous genetic disorder characterized by red cell aplasia, congenital anomalies, and a predisposition to cancer…”
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Acquired ribosomopathies in leukemia and solid tumors by Vlachos, Adrianna

“…A mutation in the gene encoding the small subunit-associated ribosomal protein RPS19, leading to RPS19 haploinsufficiency, is one of the ribosomal protein gene…”
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Breast cancer in a case of Shwachman Diamond syndrome by Singh, Sharon A., Vlachos, Adrianna, Morgenstern, Nora J., Ouansafi, Ihsane, Ip, Wan, Rommens, Johanna M., Durie, Peter, Shimamura, Akiko, Lipton, Jeffrey M.

“…Shwachman Diamond syndrome (SDS) is a rare inherited bone marrow failure syndrome (IBMFS) characterized by neutropenia, exocrine pancreatic dysfunction, and…”
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The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia by Vlachos, A, Klein, G W, Lipton, J M

“…Diamond-Blackfan anemia (DBA) is a heterogeneous genetic disorder characterized by red cell aplasia and congenital anomalies. One of what appears to be…”
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Clonal Hematopoiesis in Patients with Diamond Blackfan Anemia by Nash, Michelle, Vlachos, Adrianna, Wlodarski, Marcin W., Lipton, Jeffrey Michael

“…Background: Diamond Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome characterized by anemia, congenital anomalies and a predisposition…”
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Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia by Farrar, Jason E., Nater, Michelle, Caywood, Emi, McDevitt, Michael A., Kowalski, Jeanne, Takemoto, Clifford M., Talbot, C.Conover, Meltzer, Paul, Esposito, Diane, Beggs, Alan H., Schneider, Hal E., Grabowska, Agnieszka, Ball, Sarah E., Niewiadomska, Edyta, Sieff, Colin A., Vlachos, Adrianna, Atsidaftos, Eva, Ellis, Steven R., Lipton, Jeffrey M., Gazda, Hanna T., Arceci, Robert J.

“…Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by anemia, congenital abnormalities, and cancer predisposition. Small…”
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Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome by Kennedy, Alyssa L., Myers, Kasiani C., Bowman, James, Gibson, Christopher J., Camarda, Nicholas D., Furutani, Elissa, Muscato, Gwen M., Klein, Robert H., Ballotti, Kaitlyn, Liu, Shanshan, Harris, Chad E., Galvin, Ashley, Malsch, Maggie, Dale, David, Gansner, John M., Nakano, Taizo A., Bertuch, Alison, Vlachos, Adrianna, Lipton, Jeffrey M., Castillo, Paul, Connelly, James, Churpek, Jane, Edwards, John R., Hijiya, Nobuko, Ho, Richard H., Hofmann, Inga, Huang, James N., Keel, Siobán, Lamble, Adam, Lau, Bonnie W., Norkin, Maxim, Stieglitz, Elliot, Stock, Wendy, Walkovich, Kelly, Boettcher, Steffen, Brendel, Christian, Fleming, Mark D., Davies, Stella M., Weller, Edie A., Bahl, Christopher, Carter, Scott L., Shimamura, Akiko, Lindsley, R. Coleman

“…To understand the mechanisms that mediate germline genetic leukemia predisposition, we studied the inherited ribosomopathy Shwachman-Diamond syndrome (SDS), a…”
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