Resultados de procura - Abramson, Ruth

Effects of Hypotonic Saline Loading in Hydrated Dog: Evidence for a Saline-induced Limit on Distal Tubular Sodium Transport por Stein, Richard M., Abramson, Ruth G., Kahn, Thomas, Levitt, Marvin F.

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Functional reconstitution, membrane targeting, genomic structure, and chromosomal localization of a human urate transporter por Lipkowitz, Michael S., Leal-Pinto, Edgar, Rappoport, Joshua Z., Najfeld, Vesna, Abramson, Ruth G.

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Investigation of autism and GABA receptor subunit genes in multiple ethnic groups por Collins, Ann L., Ma, Deqiong, Whitehead, Patrice L., Martin, Eden R., Wright, Harry H., Abramson, Ruth K., Hussman, John P., Haines, Jonathan L., Cuccaro, Michael L., Gilbert, John R., Pericak-Vance, Margaret A.

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Novel variants identified in methyl-CpG-binding domain genes in autistic individuals por Cukier, Holly N., Rabionet, Raquel, Konidari, Ioanna, Rayner-Evans, Melissa Y., Baltos, Mary L., Wright, Harry H., Abramson, Ruth K., Martin, Eden R., Cuccaro, Michael L., Pericak-Vance, Margaret A., Gilbert, John R.

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A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis por Griswold, Anthony J, Ma, Deqiong, Sacharow, Stephanie J, Robinson, Joycelyn L, Jaworski, James M, Wright, Harry H, Abramson, Ruth K, Lybæk, Helle, Øyen, Nina, Cuccaro, Michael L, Gilbert, John R, Pericak-Vance, Margaret A

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Phenotypic Homogeneity Provides Increased Support for Linkage on Chromosome 2 in Autistic Disorder por Shao, Yujun, Raiford, Kimberly L., Wolpert, Chantelle M., Cope, Heidi A., Ravan, Sarah A., Ashley-Koch, Allison A., Abramson, Ruth K., Wright, Harry H., DeLong, Robert G., Gilbert, John R., Cuccaro, Michael L., Pericak-Vance, Margaret A.

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Microduplications in an Autism Multiplex Family Narrow the Region of Susceptibility for Developmental Disorders on 15q24 and Implicate 7p21 por Cukier, Holly N., Salyakina, Daria, Blankstein, Sarah F., Robinson, Joycelyn L., Sacharow, Stephanie, Ma, Deqiong, Wright, Harry H., Abramson, Ruth K., Menon, Ramkumar, Williams, Scott M., Haines, Jonathan L., Cuccaro, Michael L., Gilbert, John R., Pericak-Vance, Margaret A.

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Evaluating mitochondrial DNA variation in autism spectrum disorders por HADJIXENOFONTOS, ATHENA, SCHMIDT, MICHAEL A., WHITEHEAD, PATRICE L., KONIDARI, IOANNA, HEDGES, DALE J., WRIGHT, HARRY H., ABRAMSON, RUTH K., MENON, RAMKUMAR, WILLIAMS, SCOTT M., CUCCARO, MICHAEL L., HAINES, JONATHAN L., GILBERT, JOHN R., PERICAK-VANCE, MARGARET A., MARTIN, EDEN R., MCCAULEY, JACOB L.

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An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males por Chung, Ren-Hua, Ma, Deqiong, Wang, Kai, Hedges, Dale J, Jaworski, James M, Gilbert, John R, Cuccaro, Michael L, Wright, Harry H, Abramson, Ruth K, Konidari, Ioanna, Whitehead, Patrice L, Schellenberg, Gerard D, Hakonarson, Hakon, Haines, Jonathan L, Pericak-Vance, Margaret A, Martin, Eden R

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Genomic and epigenetic evidence for oxytocin receptor deficiency in autism por Gregory, Simon G, Connelly, Jessica J, Towers, Aaron J, Johnson, Jessica, Biscocho, Dhani, Markunas, Christina A, Lintas, Carla, Abramson, Ruth K, Wright, Harry H, Ellis, Peter, Langford, Cordelia F, Worley, Gordon, Delong, G Robert, Murphy, Susan K, Cuccaro, Michael L, Persico, Antonello, Pericak-Vance, Margaret A

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Copy Number Variants in Extended Autism Spectrum Disorder Families Reveal Candidates Potentially Involved in Autism Risk por Salyakina, Daria, Cukier, Holly N., Lee, Joycelyn M., Sacharow, Stephanie, Nations, Laura D., Ma, Deqiong, Jaworski, James M., Konidari, Ioanna, Whitehead, Patrice L., Wright, Harry H., Abramson, Ruth K., Williams, Scott M., Menon, Ramkumar, Haines, Jonathan L., Gilbert, John R., Cuccaro, Michael L., Pericak-Vance, Margaret A.

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The Expanding Role of MBD Genes in Autism: Identification of a MECP2 Duplication and Novel Alterations in MBD5, MBD6, and SETDB1 por Cukier, Holly N., Lee, Joycelyn M., Ma, Deqiong, Young, Juan I., Mayo, Vera, Butler, Brittany L., Ramsook, Sandhya S., Rantus, Joseph A., Abrams, Alexander J., Whitehead, Patrice L., Wright, Harry H., Abramson, Ruth K., Haines, Jonathan L., Cuccaro, Michael L., Pericak-Vance, Margaret A., Gilbert, John R.

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Pharmacotherapy of Autism Spectrum Disorder: Results from the Randomized BAART Clinical Trial por DeVane, C. Lindsay, Charles, Jane M., Abramson, Ruth K., Williams, John E., Carpenter, Laura A., Raven, Sarah, Gwynette, Frampton, Stuck, Craig A., Geesey, Mark E., Bradley, Catherine, Donovan, Jennifer L., Hall, Alicia G., Sherk, Shelley T., Powers, Nancy R., Spratt, Eve, Kinsman, Anne, Kruesi, Markus J., Bragg, John E.

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Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways por Griswold, Anthony J., Ma, Deqiong, Cukier, Holly N., Nations, Laura D., Schmidt, Mike A., Chung, Ren-Hua, Jaworski, James M., Salyakina, Daria, Konidari, Ioanna, Whitehead, Patrice L., Wright, Harry H., Abramson, Ruth K., Williams, Scott M., Menon, Ramkumar, Martin, Eden R., Haines, Jonathan L., Gilbert, John R., Cuccaro, Michael L., Pericak-Vance, Margaret A.

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A genome-wide association study of autism reveals a common novel risk locus at 5p14.1 por Ma, DQ, Salyakina, Daria, Jaworski, James M., Konidari, Ioanna, Whitehead, Patrice L., Andersen, Ashley N., Hoffman, Joshua D., Slifer, Susan H., Hedges, Dale J., Cukier, Holly N., McCauley, Jacob L., Beecham, Gary W., Wright, Harry H., Abramson, Ruth K., Martin, Eden R., Hussman, John P., Gilbert, John R., Cuccaro, Michael L., Haines, Jonathan L., Pericak-Vance., Margaret A.

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Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16 por Djoussé, Luc, Knowlton, Beth, Hayden, Michael R., Almqvist, Elisabeth W., Brinkman, Ryan R., Ross, Christopher A., Margolis, Russel L., Rosenblatt, Adam, Durr, Alexandra, Dode, Catherine, Morrison, Patrick J., Novelletto, Andrea, Frontali, Marina, Trent, Ronald J. A., McCusker, Elizabeth, Gómez-Tortosa, Estrella, Mayo Cabrero, David, Jones, Randi, Zanko, Andrea, Nance, Martha, Abramson, Ruth K., Suchowersky, Oksana, Paulsen, Jane S., Harrison, Madaline B., Yang, Qiong, Cupples, L. Adrienne, Mysore, Jayalakshmi, Gusella, James F., MacDonald, Marcy E., Myers, Richard H.

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Common SNP-Based Haplotype Analysis of the 4p16.3 Huntington Disease Gene Region por Lee, Jong-Min, Gillis, Tammy, Mysore, Jayalakshmi Srinidhi, Ramos, Eliana Marisa, Myers, Richard H., Hayden, Michael R., Morrison, Patrick J., Nance, Martha, Ross, Christopher A., Margolis, Russell L., Squitieri, Ferdinando, Griguoli, Annamaria, Di Donato, Stefano, Gomez-Tortosa, Estrella, Ayuso, Carmen, Suchowersky, Oksana, Trent, Ronald J., McCusker, Elizabeth, Novelletto, Andrea, Frontali, Marina, Jones, Randi, Ashizawa, Tetsuo, Frank, Samuel, Saint-Hilaire, Marie-Helene, Hersch, Steven M., Rosas, Herminia D., Lucente, Diane, Harrison, Madaline B., Zanko, Andrea, Abramson, Ruth K., Marder, Karen, Sequeiros, Jorge, MacDonald, Marcy E., Gusella, James F.

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TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease por Lee, Ji-Hyun, Lee, Jong-Min, Ramos, Eliana Marisa, Gillis, Tammy, Mysore, Jayalakshmi S., Kishikawa, Shotaro, Hadzi, Tiffany, Hendricks, Audrey E., Hayden, Michael R., Morrison, Patrick J., Nance, Martha, Ross, Christopher A., Margolis, Russell L., Squitieri, Ferdinando, Gellera, Cinzia, Gomez-Tortosa, Estrella, Ayuso, Carmen, Suchowersky, Oksana, Trent, Ronald J., McCusker, Elizabeth, Novelletto, Andrea, Frontali, Marina, Jones, Randi, Ashizawa, Tetsuo, Frank, Samuel, Saint-Hilaire, Marie-Helene, Hersch, Steven M., Rosas, Herminia D., Lucente, Diane, Harrison, Madaline B., Zanko, Andrea, Abramson, Ruth K., Marder, Karen, Sequeiros, Jorge, Landwehrmeyer, G. Bernhard, Network, Ira Shoulson, Myers, Richard H., MacDonald, Marcy E., Gusella, James F.

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Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington’s disease motor onset por Ramos, Eliana Marisa, Latourelle, Jeanne C., Gillis, Tammy, Mysore, Jayalakshmi S., Squitieri, Ferdinando, Di Pardo, Alba, Di Donato, Stefano, Gellera, Cinzia, Hayden, Michael R., Morrison, Patrick J., Nance, Martha, Ross, Christopher A., Margolis, Russell L., Gomez-Tortosa, Estrella, Ayuso, Carmen, Suchowersky, Oksana, Trent, Ronald J., McCusker, Elizabeth, Novelletto, Andrea, Frontali, Marina, Jones, Randi, Ashizawa, Tetsuo, Frank, Samuel, Saint-Hilaire, Marie-Helene, Hersch, Steven M., Rosas, Herminia D., Lucente, Diane, Harrison, Madaline B., Zanko, Andrea, Abramson, Ruth K., Marder, Karen, Gusella, James F., Lee, Jong-Min, Alonso, Isabel, Sequeiros, Jorge, Myers, Richard H., MacDonald, Marcy E.

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A Genome Scan for Modifiers of Age at Onset in Huntington Disease: The HD MAPS Study por Li, Jian-Liang, Hayden, Michael R., Almqvist, Elisabeth W., Brinkman, Ryan R., Durr, Alexandra, Dodé, Catherine, Morrison, Patrick J., Suchowersky, Oksana, Ross, Christopher A., Margolis, Russell L., Rosenblatt, Adam, Gómez-Tortosa, Estrella, Cabrero, David Mayo, Novelletto, Andrea, Frontali, Marina, Nance, Martha, Trent, Ronald J. A., McCusker, Elizabeth, Jones, Randi, Paulsen, Jane S., Harrison, Madeline, Zanko, Andrea, Abramson, Ruth K., Russ, Ana L., Knowlton, Beth, Djoussé, Luc, Mysore, Jayalakshmi S., Tariot, Suzanne, Gusella, Michael F., Wheeler, Vanessa C., Atwood, Larry D., Cupples, L. Adrienne, Saint-Hilaire, Marie, Cha, Jang-Ho J., Hersch, Steven M., Koroshetz, Walter J., Gusella, James F., MacDonald, Marcy E., Myers, Richard H.

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