Resultados de procura - Sweetser, David A
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Novel compound heterozygous mutations expand the recognized phenotypes of FARS2-linked disease por Walker, Melissa A., Mohler, Kyle P., Hopkins, Kyle W., Oakley, Derek H., Sweetser, David A., Ibba, Michael, Frosch, Matthew P., Thibert, Ronald L.
Publicado 2016Text -
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Loss of TLE1 and TLE4 from the del(9q) commonly deleted region in AML cooperates with AML1-ETO to affect myeloid cell proliferation and survival por Dayyani, Farshid, Wang, Jianfeng, Yeh, Jing-Ruey J., Ahn, Eun-Young, Tobey, Erica, Zhang, Dong-Er, Bernstein, Irwin D., Peterson, Randall T., Sweetser, David A.
Publicado 2008Text -
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FLT3 internal tandem duplication in CD34(+)/CD33(-) precursors predicts poor outcome in acute myeloid leukemia por Pollard, Jessica A., Alonzo, Todd A., Gerbing, Robert B., Woods, William G., Lange, Beverly J., Sweetser, David A., Radich, Jerald P., Bernstein, Irwin D., Meshinchi, Soheil
Publicado 2006Text -
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AML1-ETO mediates hematopoietic self-renewal and leukemogenesis through a COX/β-catenin signaling pathway por Zhang, Yiyun, Wang, Jianfeng, Wheat, Justin, Chen, Xi, Jin, Shan, Sadrzadeh, Hossein, Fathi, Amir T., Peterson, Randall T., Kung, Andrew L., Sweetser, David A., Yeh, Jing-Ruey Joanna
Publicado 2013Text -
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Tle1 tumor suppressor negatively regulates inflammation in vivo and modulates NF-κB inflammatory pathway por Ramasamy, Selvi, Saez, Borja, Mukhopadhyay, Subhankar, Ding, Daching, Ahmed, Alwiya M., Chen, Xi, Pucci, Ferdinando, Yamin, Rae’e, Wang, Jianfeng, Pittet, Mikael J., Kelleher, Cassandra M., Scadden, David T., Sweetser, David A.
Publicado 2016Text -
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Tle corepressors are differentially partitioned to instruct CD8(+) T cell lineage choice and identity por Xing, Shaojun, Shao, Peng, Li, Fengyin, Zhao, Xudong, Seo, Wooseok, Wheat, Justin C., Ramasamy, Selvi, Wang, Jianfeng, Li, Xiang, Peng, Weiqun, Yu, Shuyang, Liu, Chengyu, Taniuchi, Ichiro, Sweetser, David A., Xue, Hai-Hui
Publicado 2018Text -
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Mutations in the neutral sphingomyelinase gene SMPD3 implicate the ceramide pathway in human leukemias por Kim, Woo Jae, Okimoto, Ross A., Purton, Louise E., Goodwin, Meagan, Haserlat, Sara M., Dayyani, Farshid, Sweetser, David A., McClatchey, Andrea I., Bernard, Olivier A., Look, A. Thomas, Bell, Daphne W., Scadden, David T., Haber, Daniel A.
Publicado 2008Text -
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De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia por Berko, Esther R, Cho, Megan T, Eng, Christine, Shao, Yunru, Sweetser, David A, Waxler, Jessica, Robin, Nathaniel H, Brewer, Fallon, Donkervoort, Sandra, Mohassel, Payam, Bönnemann, Carsten G, Bialer, Martin, Moore, Christine, Wolfe, Lynne A, Tifft, Cynthia J, Shen, Yufeng, Retterer, Kyle, Millan, Francisca, Chung, Wendy K
Publicado 2016Text -
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De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment por Dutta, Debdeep, Briere, Lauren C, Kanca, Oguz, Marcogliese, Paul C, Walker, Melissa A, High, Frances A, Vanderver, Adeline, Krier, Joel, Carmichael, Nikkola, Callahan, Christine, Taft, Ryan J, Simons, Cas, Helman, Guy, Network, Undiagnosed Diseases, Wangler, Michael F, Yamamoto, Shinya, Sweetser, David A, Bellen, Hugo J
Publicado 2020Text -
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Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported retinal phen... por Rossetti, Linda Z., Bekheirnia, Mir Reza, Lewis, Andrea M., Mefford, Heather C., Golden‐Grant, Katie, Tarczy‐Hornoch, Kristina, Briere, Lauren C., Sweetser, David A., Walker, Melissa A., Kravets, Elijah, Stevenson, David A., Bruenner, Georgette, Sebastian, Jessica, Knapo, Julia, Rosenfeld, Jill A., Marcogliese, Paul C., Wangler, Michael F.
Publicado 2020Text -
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A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy por Briere, Lauren C., Walker, Melissa A., High, Frances A., Cooper, Cynthia, Rogers, Cassandra A., Callahan, Christine J., Ishimura, Ryosuke, Ichimura, Yoshinobu, Caruso, Paul A., Sharma, Nutan, Brokamp, Elly, Koziura, Mary E., Mohammad, Shekeeb S., Dale, Russell C., Riley, Lisa G., Phillips, John A., Komatsu, Masaaki, Sweetser, David A.
Publicado 2021Text -
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Panel-based Genetic Diagnostic Testing for Inherited Eye Diseases is Highly Accurate and Reproducible and More Sensitive for Variant Detection Than Exome Sequencing por Consugar, Mark B., Navarro-Gomez, Daniel, Place, Emily M., Bujakowska, Kinga M., Sousa, Maria E., Fonseca-Kelly, Zoë D., Taub, Daniel G., Janessian, Maria, Wang, Dan Yi, Au, Elizabeth D., Sims, Katherine B., Sweetser, David A., Fulton, Anne B., Liu, Qin, Wiggs, Janey L., Gai, Xiaowu, Pierce, Eric A.
Publicado 2014Text -
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Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region por Kelly, McKenna, Park, Meredith, Mihalek, Ivana, Rochtus, Anne, Gramm, Marie, Pérez-Palma, Eduardo, Axeen, Erika Takle, Hung, Christina Y., Olson, Heather, Swanson, Lindsay, Anselm, Irina, Briere, Lauren C., High, Frances A., Sweetser, David A., Kayani, Saima, Snyder, Molly, Calvert, Sophie, Scheffer, Ingrid E., Yang, Edward, Waugh, Jeff L., Lal, Dennis, Bodamer, Olaf, Poduri, Annapurna
Publicado 2019Text