检索结果 - Zhilian Xia
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G Protein-Gated K + Channel Ablation in Forebrain Pyramidal Neurons Selectively Impairs Fear Learning 由 Nicole C. Victoria, Ezequiel Marrón Fernández de Velasco, Olga Ostrovskaya, Stefania Metzger, Zhilian Xia, Lydia Kotecki, Michael A. Benneyworth, Anastasia N. Zink, Kirill A. Martemyanov, Kevin Wickman
出版 2015Artigo -
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Genomewide microRNA down-regulation as a negative feedback mechanism in the early phases of liver regeneration 由 Jingmin Shu, Betsy T. Kren, Zhilian Xia, Phillip Wong, Lihua Li, Eric A. Hanse, Michael X. Min, Bingshan Li, Jeffrey H. Albrecht, Yan Zeng, Subbaya Subramanian, Clifford J. Steer
出版 2011Artigo -
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GIRK Channels Modulate Opioid-Induced Motor Activity in a Cell Type- and Subunit-Dependent Manner 由 Lydia Kotecki, Matthew C. Hearing, Nora M. McCall, Ezequiel Marrón Fernández de Velasco, Marco Pravetoni, Devinder Arora, Nicole C. Victoria, Michaelanne B. Munoz, Zhilian Xia, Paul A. Slesinger, C. David Weaver, Kevin Wickman
出版 2015Artigo -
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Severe mental retardation, seizures, and hypotonia due to deletions of <i>MEF2C</i> 由 Beata Nowakowska, Ewa Obersztyn, Krystyna Szymańska, Monika Bekiesińska‐Figatowska, Zhilian Xia, Christian B. Ricks, Ewa Bocian, David W. Stockton, Krzysztof Szczałuba, Magdalena Nawara, Ankita Patel, Daryl A. Scott, Sau Wai Cheung, Timothy P. Bohan, Paweł Stankiewicz
出版 2010Artigo -
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A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes 由 Marwan Shinawi, Christian P. Schaaf, Samarth Bhatt, Zhilian Xia, Ankita Patel, Sau Wai Cheung, Brendan C. Lanpher, Sandra Nagl, Heinrich Stephan Herding, Claudia Nevinny-Stickel, LaDonna Immken, Gayle Patel, Jennifer R. German, Arthur L. Beaudet, Paweł Stankiewicz
出版 2009Artigo -
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Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? 由 Przemysław Szafrański, Christian P. Schaaf, Richard Person, Ian B. Gibson, Zhilian Xia, Sangeetha Mahadevan, Joanna Wiszniewska, Carlos A. Bacino, Seema R. Lalani, Lorraine Potocki, Sung-Hae L. Kang, Ankita Patel, Sau Wai Cheung, Frank J. Probst, Brett H. Graham, Marwan Shinawi, Arthur L. Beaudet, Paweł Stankiewicz
出版 2010Artigo -
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Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture 由 Lisenka E.L.M. Vissers, Samarth Bhatt, Irene M. Janssen, Zhilian Xia, Seema R. Lalani, Rolph Pfundt, Katarzyna Derwińska, Bert B.A. de Vries, Christian Gilissen, Alexander Hoischen, Monika Nesteruk, Barbara Wiśniowiecka‐Kowalnik, Marta Smyk, Han G. Brunner, Sau Wai Cheung, Ad Geurts van Kessel, Joris A. Veltman, Paweł Stankiewicz
出版 2009Artigo -
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Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment 由 Nicola Brunetti‐Pierri, Alex R. Paciorkowski, Roberto Ciccone, Erika Della Mina, María Clara Bonaglia, Renato Borgatti, Christian P. Schaaf, V. Reid Sutton, Zhilian Xia, Naftha Jelluma, Claudia Ruivenkamp, Mary Bertrand, Thomy de Ravel, Parul Jayakar, Serena Belli, Katia Rocchetti, Chiara Pantaleoni, Stefano D’Arrigo, Jeff Hughes, Sau Wai Cheung, Orsetta Zuffardi, Paweł Stankiewicz
出版 2010Artigo -
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Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes 由 Zhishuo Ou, Paweł Stankiewicz, Zhilian Xia, Amy M. Breman, Brian Dawson, Joanna Wiszniewska, Przemysław Szafrański, M. Lance Cooper, Mitchell Rao, Lina Shao, Sarah T. South, Karlene Coleman, Paul M. Fernhoff, Marcel J. Deray, Sally Rosengren, Elizabeth Roeder, Victoria B. Enciso, A. Craig Chinault, Ankita Patel, Sung-Hae L. Kang, Chad A. Shaw, James R. Lupski, Sau Wai Cheung
出版 2011Artigo -
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Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems 由 Melissa B. Ramocki, Magdalena Bartnik, Przemysław Szafrański, Katarzyna Kołodziejska, Zhilian Xia, Jaclyn Bravo, G. Steve Miller, Diana L. Rodríguez, Charles A. Williams, Patricia I. Bader, Elżbieta Szczepanik, Tomasz Mazurczak, Dorota Antczak‐Marach, James G. Coldwell, Cigdem I. Akman, Karen McAlmon, Melinda Cohen, James McGrath, Elizabeth Roeder, Jennifer M. Mueller, Sung‐Hae Kang, Carlos A. Bacino, Ankita Patel, Ewa Bocian, Chad A. Shaw, Sau Wai Cheung, Tadeusz Mazurczak, Paweł Stankiewicz
出版 2010Artigo -
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Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations 由 Paweł Stankiewicz, Partha Sen, Samarth Bhatt, Mekayla A. Storer, Zhilian Xia, Bassem A. Bejjani, Zhishuo Ou, Joanna Wiszniewska, Daniel J. Driscoll, Juan M. Bolívar, Mislen Bauer, Elaine H. Zackai, Donna M. McDonald‐McGinn, Małgorzata M.J. Nowaczyk, Mitzi L. Murray, Tamim H. Shaikh, Vicki Martin, Matthew Tyreman, Ingrid Simonic, Lionel Willatt, Joan Paterson, Sarju Mehta, Diana Rajan, Tomas Fitzgerald, Susan Gribble, Elena Prigmore, Ankita Patel, Lisa G. Shaffer, Nigel P. Carter, Sau Wai Cheung, Claire Langston, Charles Shaw‐Smith
出版 2009Artigo -
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Detection of clinically relevant exonic copy-number changes by array CGH 由 Philip M. Boone, Carlos A. Bacino, Chad A. Shaw, Patricia A. Eng, Patricia Hixson, Amber N. Pursley, Sung-Hae L. Kang, Yaping Yang, Joanna Wiszniewska, Beata Nowakowska, Daniela del Gaudio, Zhilian Xia, Gayle Simpson-Patel, LaDonna Immken, James B. Gibson, Anne Tsai, Jennifer A. Bowers, Tyler Reimschisel, Christian P. Schaaf, Lorraine Potocki, Fernando Scaglia, Tomasz Gambin, Maciej Sykulski, Magdalena Bartnik, Katarzyna Derwińska, Barbara Wiśniowiecka‐Kowalnik, Seema R. Lalani, Frank J. Probst, Weimin Bi, Arthur L. Beaudet, Ankita Patel, James R. Lupski, Sau Wai Cheung, Paweł Stankiewicz
出版 2010Artigo -
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Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations 由 Paweł Stankiewicz, Partha Sen, Samarth Bhatt, Mekayla A. Storer, Zhilian Xia, Bassem A. Bejjani, Zhishuo Ou, Joanna Wiszniewska, Daniel J. Driscoll, Melissa K. Maisenbacher, Juan M. Bolívar, Mislen Bauer, Elaine H. Zackai, Donna M. McDonald‐McGinn, Małgorzata M.J. Nowaczyk, Mitzi L. Murray, Virginia A. Hustead, Kristin Mascotti, Regina Schultz, Lavinia Hallam, D. Harold McRae, Andrew G. Nicholson, Robert Newbury, Jane Durham-O'Donnell, G. R. Knight, Usha Kini, Tamim H. Shaikh, Vicki Martin, Matthew Tyreman, Ingrid Simonic, Lionel Willatt, Joan Paterson, Sarju Mehta, C. Jones, Diana Rajan, Tomas Fitzgerald, Susan Gribble, Elena Prigmore, Ankita Patel, Lisa G. Shaffer, Nigel P. Carter, Sau Wai Cheung, Claire Langston, Charles Shaw‐Smith
出版 2009Artigo -
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Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats 由 Paweł Stankiewicz, Shashikant Kulkarni, Avinash V. Dharmadhikari, Srirangan Sampath, Samarth Bhatt, Tamim H. Shaikh, Zhilian Xia, Amber N. Pursley, M. Lance Cooper, Marwan Shinawi, Alex R. Paciorkowski, Dorothy K. Grange, Michael J. Noetzel, Scott Saunders, Paul Simons, Marshall Summar, Brendan Lee, Fernando Scaglia, Florence Fellmann, Danielle Martinet, J. Beckmann, Alexander Asamoah, Kathryn Platky, Susan Sparks, Ann Martin, Suneeta Madan‐Khetarpal, Jacqueline M. Hoover, Līvija Medne, Carsten G. Bönnemann, John B. Moeschler, Stephanie E. Vallee, Sumit Parikh, Polly Irwin, Victoria P. Dalzell, Wendy E. Smith, Valerie Banks, David B. Flannery, Carolyn Lovell, Gary A. Bellus, Kathryn Golden-Grant, Jerome L. Gorski, Jennifer Kussmann, Tracy L. McGregor, Rizwan Hamid, Jean P. Pfotenhauer, Blake C. Ballif, Chad A. Shaw, Sung‐Hae Kang, Carlos A. Bacino, Ankita Patel, Jill A. Rosenfeld, Sau Wai Cheung, Lisa G. Shaffer
出版 2011Artigo
相关主题
Biology
Gene
Genetics
Phenotype
Gene duplication
Neuroscience
Gene expression
Genome
Haploinsufficiency
Hypotonia
Biochemistry
Cell biology
Chemistry
Copy-number variation
Epilepsy
Receptor
Breakpoint
Central nervous system
Chromosomal translocation
Chromosome
Comparative genomic hybridization
Computational biology
Dicer
Frameshift mutation
G protein
G protein-coupled inwardly-rectifying potassium channel
Gene family
Genetic recombination
Homologous recombination
Intellectual disability