Search Results - "Buchanan, Catherine"

Ichthyosis, petechiae, and arthrogryposis in a neonate by Haller, Courtney N., Paladichuk, Hana, Ziats, Catherine A., Buchanan, Catherine A., Diaz, Lucia Z.

“…Gaucher disease is a rare lysosomal storage disorder caused by a deficiency in glucocerebrosidase. This enzyme deficiency leads to the accumulation of toxic…”
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On the dust geometry in radio-loud active galactic nuclei by Landt, Hermine, Buchanan, Catherine L., Barmby, Pauline

“…We use photometric and spectroscopic infrared observations obtained with the Spitzer Space Telescope of 12 radio-loud active galactic nuclei to investigate the…”
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De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome by Cappuccio, Gerarda, Sayou, Camille, Tanno, Pauline Le, Tisserant, Emilie, Bruel, Ange-Line, Kennani, Sara El, Sá, Joaquim, Low, Karen J., Dias, Cristina, Havlovicová, Markéta, Hančárová, Miroslava, Eichler, Evan E., Devillard, Françoise, Moutton, Sébastien, Van-Gils, Julien, Dubourg, Christèle, Odent, Sylvie, Gerard, Bénédicte, Piton, Amélie, Yamamoto, Toshiyuki, Okamoto, Nobuhiko, Firth, Helen, Metcalfe, Kay, Moh, Anna, Chapman, Kimberly A., Aref-Eshghi, Erfan, Kerkhof, Jennifer, Torella, Annalaura, Nigro, Vincenzo, Perrin, Laurence, Piard, Juliette, Le Guyader, Gwenaël, Jouan, Thibaud, Thauvin-Robinet, Christel, Duffourd, Yannis, George-Abraham, Jaya K., Buchanan, Catherine A., Williams, Denise, Kini, Usha, Wilson, Kate, Sousa, Sérgio B., Hennekam, Raoul C. M., Sadikovic, Bekim, Thevenon, Julien, Govin, Jérôme, Vitobello, Antonio, Brunetti-Pierri, Nicola

“…Purpose Nontruncating variants in SMARCA2 , encoding a catalytic subunit of SWI/SNF chromatin remodeling complex, cause Nicolaides–Baraitser syndrome (NCBRS),…”
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Associations of Gait Speed and Other Measures of Physical Function With Cognition in a Healthy Cohort of Elderly Persons by Fitzpatrick, Annette L., Buchanan, Catherine K., Nahin, Richard L., DeKosky, Steven T., Atkinson, Hal H., Carlson, Michelle C., Williamson, Jeff D.

“…Background. Recent evidence suggests that physical decline and slower gait may be associated with early signs of dementia, but more information on healthy…”
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Infrared Diagnostics for the Extended 12 μm Sample of Seyferts by Baum, Stefi A, Gallimore, Jack F, O’Dea, Christopher P, Buchanan, Catherine L, Noel-Storr, Jacob, Axon, David J, Robinson, Andy, Elitzur, Moshe, Dorn, Meghan, Staudaher, Shawn

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Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implications by Howell, Susan, Buchanan, Catherine, Davis, Shanlee M., Miyazawa, Heather, Furuta, Glenn T., Tartaglia, Nicole R., Nguyen, Nathalie

“…Background Supernumerary sex chromosome aneuploidies (SCA) are common genetic conditions characterized by additional X or Y chromosome, affecting ~1/500…”
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Spitzer Spectroscopy of Dusty Disks around B[e] Hypergiants in the Large Magellanic Cloud by Kastner, Joel H, Buchanan, Catherine L, Sargent, B, Forrest, W. J

“…We used the Spitzer Space Telescope Infrared Spectrograph (IRS) to obtain mid-infrared (5-35 km) spectra of two highly luminous B[e] stars in the Large…”
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New Host Plant Record for The Poison Ivy Sawfly, Arge humeralis (Hymenoptera: Argidae), and Its Performance on Two Host Plant Species by Benda, Nicole, Possley, Jennifer, Powell, Devon, Buchanan-Mcgrath, Catherine, Cuda, James

“…The poison ivy sawfly, Arge humeralis Beauvois, was previously known to feed only on poison ivy, Toxicodendron radicans (L.) Kuntze. However, in 2009, larvae…”
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A chimeric MIP-1α/RANTES protein demonstrates the use of different regions of the RANTES protein to bind and activate its receptors by Blanpain, Cédric, Buser, Raphaële, Power, Christine A., Edgerton, Michael, Buchanan, Catherine, Mack, Matthias, Simmons, Graham, Clapham, Paul R., Parmentier, Marc, Proudfoot, Amanda E. I.

“…Human RANTES (CCL5) and MIP‐1α (CCL3) bind and activate several CC chemokine receptors. RANTES is a high‐affinity ligand for CCR1 and CCR5, and it binds CCR3…”
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SPITZER SPACE TELESCOPE MEASUREMENTS OF DUST REVERBERATION LAGS IN THE SEYFERT 1 GALAXY NGC 6418 by Vazquez, Billy, Galianni, Pasquale, Richmond, Michael, Robinson, Andrew, Axon, David J., Horne, Keith, Almeyda, Triana, Fausnaugh, Michael, Peterson, Bradley M., Bottorff, Mark, Gallimore, Jack, Eltizur, Moshe, Netzer, Hagai, Storchi-Bergmann, Thaisa, Marconi, Alessandro, Capetti, Alessandro, Batcheldor, Dan, Buchanan, Catherine, Stirpe, Giovanna, Kishimoto, Makoto, Packham, Christopher, Perez, Enrique, Tadhunter, Clive, Upton, John, Estrada-Carpenter, Vicente

“…ABSTRACT We present results from a 15 month campaign of high-cadence (∼3 days) mid-infrared Spitzer and optical (B and V) monitoring of the Seyfert 1 galaxy…”
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Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders by O'Grady, Lauren, Schrier Vergano, Samantha A., Hoffman, Trevor L., Sarco, Dean, Cherny, Sara, Bryant, Emily, Schultz‐Rogers, Laura, Chung, Wendy K., Sacharow, Stephanie, Immken, Ladonna L., Holder, Susan, Blackwell, Rebecca R., Buchanan, Catherine, Yusupov, Roman, Lecoquierre, François, Guerrot, Anne‐Marie, Rodan, Lance, Vries, Bert B. A., Kamsteeg, Erik Jan, Santos Simarro, Fernando, Palomares‐Bralo, Maria, Brown, Natasha, Pais, Lynn, Ferrer, Alejandro, Klee, Eric W., Babovic‐Vuksanovic, Dusica, Rhodes, Lindsay, Person, Richard, Begtrup, Amber, Keller‐Ramey, Jennifer, Santiago‐Sim, Teresa, Schnur, Rhonda E., Sweetser, David A., Gold, Nina B.

“…The pre‐mRNA‐processing factor 8, encoded by PRPF8, is a scaffolding component of a spliceosome complex involved in the removal of introns from mRNA…”
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On the dust geometry in radio-loud active galactic nuclei: On the dust geometry in radio-loud AGN by Landt, Hermine, Buchanan, Catherine L., Barmby, Pauline

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On the dust geometry in radio-loud active galactic nuclei by Landt, Hermine, Buchanan, Catherine L., Barmby, Pauline

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Alternative polyadenylation alters protein dosage by switching between intronic and 3′UTR sites by de Prisco, Nicola, Ford, Caitlin, Elrod, Nathan D., Lee, Winston, Tang, Lauren C., Huang, Kai-Lieh, Lin, Ai, Ji, Ping, Jonnakuti, Venkata S., Boyle, Lia, Cabaj, Maximilian, Botta, Salvatore, Õunap, Katrin, Reinson, Karit, Wojcik, Monica H., Rosenfeld, Jill A., Bi, Weimin, Tveten, Kristian, Prescott, Trine, Gerstner, Thorsten, Schroeder, Audrey, Fong, Chin-To, George-Abraham, Jaya K., Buchanan, Catherine A., Hanson-Khan, Andrea, Bernstein, Jonathan A., Nella, Aikaterini A., Chung, Wendy K., Brandt, Vicky, Jovanovic, Marko, Targoff, Kimara L., Yalamanchili, Hari Krishna, Wagner, Eric J., Gennarino, Vincenzo A.

“…Alternative polyadenylation (APA) creates distinct transcripts from the same gene by cleaving the pre-mRNA at poly(A) sites that can lie within the 3′…”
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Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites by de Prisco, Nicola, Ford, Caitlin, Elrod, Nathan D, Lee, Winston, Tang, Lauren C, Huang, Kai-Lieh, Lin, Ai, Ji, Ping, Jonnakuti, Venkata S, Boyle, Lia, Cabaj, Maximilian, Botta, Salvatore, Õunap, Katrin, Reinson, Karit, Wojcik, Monica H, Rosenfeld, Jill A, Bi, Weimin, Tveten, Kristian, Prescott, Trine, Gerstner, Thorsten, Schroeder, Audrey, Fong, Chin-To, George-Abraham, Jaya K, Buchanan, Catherine A, Hanson-Khan, Andrea, Bernstein, Jonathan A, Nella, Aikaterini A, Chung, Wendy K, Brandt, Vicky, Jovanovic, Marko, Targoff, Kimara L, Yalamanchili, Hari Krishna, Wagner, Eric J, Gennarino, Vincenzo A

“…Alternative polyadenylation (APA) creates distinct transcripts from the same gene by cleaving the pre-mRNA at poly(A) sites that can lie within the 3'…”
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P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies by Boone, Philip, Faour, Kamli, Mohajeri, Kiana, Lemanski, John, Jana, Bimal, Fu, Jack, Kerkhof, Jennifer, McConkey, Haley, Collins, Ryan, Lucente, Diane, de Esch, Celine, Moysés-Oliveira, Mariana, Nuttle, Alexander, Domingo, Aloysius, Erdin, Serkan, Hanley, Maris, Watt, Amy, Surette, Eric, Lima, Gloria, Smith, Laura, Salani, Monica, Yadav, Rachita, Harripaul, Ricardo, O’Keefe, Kathryn, Burt, Nicholas, Larson, Matthew, Bhavsar, Riya, Currall, Benjamin, Sell, Susan, Ladda, Roger, Immken, LaDonna, Buchanan, Catherine, Yuan, Bo, Lynch, Sally, Gilissen, Christian, Pfundt, Rolph, Ockeloen, Charlotte, Kleefstra, Tjitske, Vanhoutte, Els, Sinnema, Margje, Stegmann, Sander, Stevens, Servi, Iascone, Maria, Maitz, Silvia, Cogne, Benjamin, Le Caignec, Cedric, Vincent, Marie, Nizon, Mathilde, Male, Alison, Agrawal, Pankaj, Thompson, Michelle, Torring, Pernille, Brasch-Andersen, Charlotte, Faivre, Laurence, Bruel, Ange-Line, Isidor, Bertrand, Philippe, Christophe, Morleo, Manuela, Wojcik, Monica, Genetti, Casie, Srivastava, Siddharth, Ballal, Sonia, Schließke, Sophia, Jamra, Rami Abou, Delahaye, Andree, von Wintzingerode, Lydia, Bothe, Viktoria, Houlier, Marine, Stout, Timothy, Bergant, Gaber, Peterlin, Borut, Moldovan, Oana, Martínez-Gil, Núria, Argilli, Emanuela, Sherr, Elliott, Harel, Tamar, Rosenberg-Fogler, Hallel, Rosenfeld, Jill, Wentzensen, Ingrid, Westphal, Dominik, Riedhammer, Korbinian, Orec, Laura, Gusella, James, Sadikovic, Bekim, Tai, Derek, Talkowski, Michael

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INFRARED DIAGNOSTICS FOR THE EXTENDED 12 Delta mm SAMPLE OF SEYFERTS by Baum, Stefi A, Gallimore, Jack F, O'Dea, Christopher P, Buchanan, Catherine L, Noel-Storr, Jacob, Axon, David J, Robinson, Andy, Elitzur, Moshe, Dorn, Meghan, Staudaher, Shawn

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The massacre of st bartholomew's (24-27 august 1572) and the sack of antwerp (4-7 november 1576): print and political responses in elizabethan england by Buchanan, Catherine

“…The St. Bartholomew’s Day Massacre (1572) and the Sack of Antwerp (1576), two of the most notorious massacres of the 1570s, were of international consequence…”
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ERRATUM: “INFRARED DIAGNOSTICS FOR THE EXTENDED 12 μm SAMPLE OF SEYFERTS” (2010, ApJ, 710, 289) by Baum, Stefi A., Gallimore, Jack F., O’Dea, Christopher P., Buchanan, Catherine L., Noel-Storr, Jacob, Axon, David J., Robinson, Andy, Elitzur, Moshe, Dorn, Meghan, Staudaher, Shawn

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INFRARED DIAGNOSTICS FOR THE EXTENDED 12 {mu}m SAMPLE OF SEYFERTS by Baum, Stefi A., Noel-Storr, Jacob, Dorn, Meghan, Staudaher, Shawn, Gallimore, Jack F., O'Dea, Christopher P., Axon, David J., Robinson, Andy, Buchanan, Catherine L., Elitzur, Moshe

“…We present an analysis of Spitzer IRS spectroscopy of 83 active galaxies from the extended 12 {mu}m sample. We find rank correlations between several tracers…”
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