检索结果 - Abramson, Ruth

Effects of Hypotonic Saline Loading in Hydrated Dog: Evidence for a Saline-induced Limit on Distal Tubular Sodium Transport 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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