Rezultaty - Abramson, Ruth K.

Investigation of autism and GABA receptor subunit genes in multiple ethnic groups od 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.

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

Novel variants identified in methyl-CpG-binding domain genes in autistic individuals od 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.

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis od 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

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

Phenotypic Homogeneity Provides Increased Support for Linkage on Chromosome 2 in Autistic Disorder od 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.

Dokumenty pełnotekstowe Dokumenty pełnotekstowe

Microduplications in an Autism Multiplex Family Narrow the Region of Susceptibility for Developmental Disorders on 15q24 and Implicate 7p21 od 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.

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

Evaluating mitochondrial DNA variation in autism spectrum disorders od 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.

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males od 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

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

Genomic and epigenetic evidence for oxytocin receptor deficiency in autism od 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

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

Copy Number Variants in Extended Autism Spectrum Disorder Families Reveal Candidates Potentially Involved in Autism Risk od 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.

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

The Expanding Role of MBD Genes in Autism: Identification of a MECP2 Duplication and Novel Alterations in MBD5, MBD6, and SETDB1 od 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.

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

Pharmacotherapy of Autism Spectrum Disorder: Results from the Randomized BAART Clinical Trial od 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.

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways od 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.

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

A genome-wide association study of autism reveals a common novel risk locus at 5p14.1 od 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.

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16 od 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.

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

Common SNP-Based Haplotype Analysis of the 4p16.3 Huntington Disease Gene Region od 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.

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease od 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.

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington’s disease motor onset od 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.

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

A Genome Scan for Modifiers of Age at Onset in Huntington Disease: The HD MAPS Study od 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.

Dokumenty pełnotekstowe Dokumenty pełnotekstowe

Genome-wide significance for a modifier of age at neurological onset in Huntington's Disease at 6q23-24: the HD MAPS study od Li, Jian-Liang, Hayden, Michael R, Warby, Simon C, Durr, Alexandra, Morrison, Patrick J, Nance, Martha, Ross, Christopher A, Margolis, Russell L, Rosenblatt, Adam, Squitieri, Ferdinando, Frati, Luigi, Gómez-Tortosa, Estrella, García, Carmen Ayuso, Suchowersky, Oksana, Klimek, Mary Lou, Trent, Ronald JA, McCusker, Elizabeth, Novelletto, Andrea, Frontali, Marina, Paulsen, Jane S, Jones, Randi, Ashizawa, Tetsuo, Lazzarini, Alice, Wheeler, Vanessa C, Prakash, Ranjana, Xu, Gang, Djoussé, Luc, Mysore, Jayalakshmi Srinidhi, Gillis, Tammy, Hakky, Michael, Cupples, L Adrienne, Saint-Hilaire, Marie H, Cha, Jang-Ho J, Hersch, Steven M, Penney, John B, Harrison, Madaline B, Perlman, Susan L, Zanko, Andrea, Abramson, Ruth K, Lechich, Anthony J, Duckett, Ayana, Marder, Karen, Conneally, P Michael, Gusella, James F, MacDonald, Marcy E, Myers, Richard H

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe