Výsledky vyhledávání - Breman, Amy M

Triploidy Mosaicism (45,X/68,XX) in an Infant Presenting with Failure to Thrive Autor Posey, Jennifer E., Mohrbacher, Nikki, Smith, Janice L., Patel, Ankita, Potocki, Lorraine, Breman, Amy M.

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MECP2 duplications in six patients with complex sex chromosome rearrangements Autor Breman, Amy M, Ramocki, Melissa B, Kang, Sung-Hae L, Williams, Misti, Freedenberg, Debra, Patel, Ankita, Bader, Patricia I, Cheung, Sau Wai

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MECP2 duplications in six patients with complex sex chromosome rearrangements Autor Breman, Amy M, Ramocki, Melissa B, Kang, Sung-Hae L, Williams, Misti, Freedenberg, Debra, Patel, Ankita, Bader, Patricia I, Cheung, Sau Wai

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Identification of Complex Chromosome 18 Rearrangements by FISH and Array CGH in Two Patients With Apparent Isochromosome 18q Autor Breman, Amy M., Probst, Frank J., Blazo, Maria A., Schaaf, Christian P., Roney, Erin K., Craigen, William J., Bacino, Carlos A., Cheung, Sau Wai

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Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements Autor Song, Xiaofei, Beck, Christine R., Du, Renqian, Campbell, Ian M., Coban-Akdemir, Zeynep, Gu, Shen, Breman, Amy M., Stankiewicz, Pawel, Ira, Grzegorz, Shaw, Chad A., Lupski, James R.

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Chromosome 8p23.1 Deletions as a Cause of Complex Congenital Heart Defects and Diaphragmatic Hernia Autor Wat, Margaret J., Shchelochkov, Oleg A., Holder, Ashley M., Breman, Amy M., Dagli, Aditi, Bacino, Carlos, Scaglia, Fernando, Zori, Roberto T., Cheung, Sau Wai, Scott, Daryl A., Kang, Sung-Hae Lee

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Characterization of Chromosomal Abnormalities in Pregnancy Losses Reveals Critical Genes and Loci for Human Early Development Autor Chen, Yiyun, Bartanus, Justin, Liang, Desheng, Zhu, Hongmin, Breman, Amy M, Smith, Janice L, Wang, Hua, Ren, Zhilin, Patel, Ankita, Stankiewicz, Pawel, Cram, David S, Cheung, Sau Wai, Wu, Lingqian, Yu, Fuli

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Interphase FISH Demonstrates that Human Adipose Stromal Cells Maintain a High Level of Genomic Stability in Long-Term Culture Autor Grimes, Brenda R., Steiner, Camie M., Merfeld-Clauss, Stephanie, Traktuev, Dmitry O., Smith, Danielle, Reese, Angela, Breman, Amy M., Thurston, Virginia C., Vance, Gail H., Johnstone, Brian H., Slee, Roger B., March, Keith L.

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SHANK3 overexpression causes manic-like behavior with unique pharmacogenetic properties Autor Han, Kihoon, Holder, J. Lloyd, Schaaf, Christian P., Lu, Hui, Chen, Hongmei, Kang, Hyojin, Tang, Jianrong, Wu, Zhenyu, Hao, Shuang, Cheung, Sau Wai, Yu, Peng, Sun, Hao, Breman, Amy M., Patel, Ankita, Lu, Hui-Chen, Zoghbi, Huda Y.

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Cytogenetically visible inversions are formed by multiple molecular mechanisms Autor Pettersson, Maria, Grochowski, Christopher M., Wincent, Josephine, Eisfeldt, Jesper, Breman, Amy M., Cheung, Sau W., Krepischi, Ana C. V., Rosenberg, Carla, Lupski, James R., Ottosson, Jesper, Lovmar, Lovisa, Gacic, Jelena, Lundberg, Elisabeth S., Nilsson, Daniel, Carvalho, Claudia M. B., Lindstrand, Anna

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Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis Autor Vossaert, Liesbeth, Wang, Qun, Salman, Roseen, McCombs, Anne K., Patel, Vipulkumar, Qu, Chunjing, Mancini, Michael A., Edwards, Dean P., Malovannaya, Anna, Liu, Pengfei, Shaw, Chad A., Levy, Brynn, Wapner, Ronald J., Bi, Weimin, Breman, Amy M., Van den Veyver, Ignatia B., Beaudet, Arthur L.

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Fusion of Large-Scale Genomic Knowledge and Frequency Data Computationally Prioritizes Variants in Epilepsy Autor Campbell, Ian M., Rao, Mitchell, Arredondo, Sean D., Lalani, Seema R., Xia, Zhilian, Kang, Sung-Hae L., Bi, Weimin, Breman, Amy M., Smith, Janice L., Bacino, Carlos A., Beaudet, Arthur L., Patel, Ankita, Cheung, Sau Wai, Lupski, James R., Stankiewicz, Paweł, Ramocki, Melissa B., Shaw, Chad A.

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Mechanisms for Complex Chromosomal Insertions Autor Gu, Shen, Szafranski, Przemyslaw, Akdemir, Zeynep Coban, Yuan, Bo, Cooper, Mitchell L., Magriñá, Maria A., Bacino, Carlos A., Lalani, Seema R., Breman, Amy M., Smith, Janice L., Patel, Ankita, Song, Rodger H., Bi, Weimin, Cheung, Sau Wai, Carvalho, Claudia M. B., Stankiewicz, Paweł, Lupski, James R.

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Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes Autor Ou, Zhishuo, Stankiewicz, Paweł, Xia, Zhilian, Breman, Amy M., Dawson, Brian, Wiszniewska, Joanna, Szafranski, Przemyslaw, Cooper, M. Lance, Rao, Mitchell, Shao, Lina, South, Sarah T., Coleman, Karlene, Fernhoff, Paul M., Deray, Marcel J., Rosengren, Sally, Roeder, Elizabeth R., Enciso, Victoria B., Chinault, A. Craig, Patel, Ankita, Kang, Sung-Hae L., Shaw, Chad A., Lupski, James R., Cheung, Sau W.

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Evidence for feasibility of fetal trophoblastic cell‐based noninvasive prenatal testing Autor Breman, Amy M., Chow, Jennifer C., U'Ren, Lance, Normand, Elizabeth A., Qdaisat, Sadeem, Zhao, Li, Henke, David M., Chen, Rui, Shaw, Chad A., Jackson, Laird, Yang, Yaping, Vossaert, Liesbeth, Needham, Rachel H. V., Chang, Elizabeth J., Campton, Daniel, Werbin, Jeffrey L., Seubert, Ron C., Van den Veyver, Ignatia B., Stilwell, Jackie L., Kaldjian, Eric P., Beaudet, Arthur L.

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Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome Autor Yang, Nan, Wu, Nan, Dong, Shuangshuang, Zhang, Ling, Zhao, Yanxue, Chen, Weisheng, Du, Renqian, Song, Chengcheng, Ren, Xiaojun, Liu, Jiaqi, Pehlivan, Davut, Liu, Zhenlei, Jia, Rao, Wang, Chunyan, Zhao, Sen, Breman, Amy M., Xue, Huadan, Sun, Hao, Shen, Jianxiong, Zhang, Shuyang, Posey, Jennifer E., Xu, Hong, Jin, Li, Zhang, Jianguo, Liu, Pengfei, Sanna-Cherchi, Simone, Qiu, Guixing, Wu, Zhihong, Lupski, James R., Zhang, Feng

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CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels Autor Yuan, Bo, Wang, Lei, Liu, Pengfei, Shaw, Chad, Dai, Hongzheng, Cooper, Lance, Zhu, Wenmiao, Anderson, Stephanie A., Meng, Linyan, Wang, Xia, Wang, Yue, Xia, Fan, Xiao, Rui, Braxton, Alicia, Peacock, Sandra, Schmitt, Eric, Ward, Patricia A., Vetrini, Francesco, He, Weimin, Chiang, Theodore, Muzny, Donna, Gibbs, Richard A., Beaudet, Arthur L., Breman, Amy M., Smith, Janice, Cheung, Sau Wai, Bacino, Carlos A., Eng, Christine M., Yang, Yaping, Lupski, James R., Bi, Weimin

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Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases Autor Dharmadhikari, Avinash V., Ghosh, Rajarshi, Yuan, Bo, Liu, Pengfei, Dai, Hongzheng, Al Masri, Sami, Scull, Jennifer, Posey, Jennifer E., Jiang, Allen H., He, Weimin, Vetrini, Francesco, Braxton, Alicia A., Ward, Patricia, Chiang, Theodore, Qu, Chunjing, Gu, Shen, Shaw, Chad A., Smith, Janice L., Lalani, Seema, Stankiewicz, Pawel, Cheung, Sau-Wai, Bacino, Carlos A., Patel, Ankita, Breman, Amy M., Wang, Xia, Meng, Linyan, Xiao, Rui, Xia, Fan, Muzny, Donna, Gibbs, Richard A., Beaudet, Arthur L., Eng, Christine M., Lupski, James R., Yang, Yaping, Bi, Weimin

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Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features Autor Stankiewicz, Paweł, Khan, Tahir N., Szafranski, Przemyslaw, Slattery, Leah, Streff, Haley, Vetrini, Francesco, Bernstein, Jonathan A., Brown, Chester W., Rosenfeld, Jill A., Rednam, Surya, Scollon, Sarah, Bergstrom, Katie L., Parsons, Donald W., Plon, Sharon E., Vieira, Marta W., Quaio, Caio R.D.C., Baratela, Wagner A.R., Acosta Guio, Johanna C., Armstrong, Ruth, Mehta, Sarju G., Rump, Patrick, Pfundt, Rolph, Lewandowski, Raymond, Fernandes, Erica M., Shinde, Deepali N., Tang, Sha, Hoyer, Juliane, Zweier, Christiane, Reis, André, Bacino, Carlos A., Xiao, Rui, Breman, Amy M., Smith, Janice L., Katsanis, Nicholas, Bostwick, Bret, Popp, Bernt, Davis, Erica E., Yang, Yaping

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A mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures Autor Gennarino, Vincenzo A., Palmer, Elizabeth E., McDonell, Laura M., Wang, Li, Adamski, Carolyn J., Koire, Amanda, See, Lauren, Chen, Chun-An, Schaaf, Christian P., Rosenfeld, Jill A., Panzer, Jessica A., Moog, Ute, Hao, Shuang, Bye, Ann, Kirk, Edwin P., Stankiewicz, Pawel, Breman, Amy M., McBride, Arran, Kandula, Tejaswi, Dubbs, Holly A., Macintosh, Rebecca, Cardamone, Michael, Zhu, Ying, Ying, Kevin, Dias, Kerith-Rae, Cho, Megan T., Henderson, Lindsay B., Baskin, Berivan, Morris, Paula, Tao, Jiang, Cowley, Mark J., Dinger, Marcel E., Roscioli, Tony, Caluseriu, Oana, Suchowersky, Oksana, Sachdev, Rani K., Lichtarge, Olivier, Tang, Jianrong, Boycott, Kym M., Holder, J. Lloyd, Zoghbi, Huda Y.

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