Resultados de búsqueda - Jacqueline M. Hoover
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MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways por Alex R. Paciorkowski, Ryan N. Traylor, Jill A. Rosenfeld, Jacqueline M. Hoover, Catharine Harris, Susan Winter, Yves Lacassie, Martin G. Bialer, Allen N. Lamb, Roger A. Schultz, Elizabeth Berry‐Kravis, Brenda E. Porter, Marni J. Falk, Anu Venkat, Rena Vanzo, Julie S. Cohen, Ali Fatemi, William B. Dobyns, Lisa G. Shaffer, Blake C. Ballif, Eric D. Marsh
Publicado 2013Artigo -
2
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats por 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
Publicado 2011Artigo
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Biology
Gene
Genetics
Phenotype
Central nervous system
Epilepsy
Expressivity
Forebrain
Gene duplication
Gene expression
Gene family
Genetic recombination
Genome
Haploinsufficiency
Hindbrain
Hyperkinesis
Hypotonia
Internal medicine
MEF2C
Medicine
Neurodevelopmental disorder
Neuroscience
Non-allelic homologous recombination
Penetrance
Pharmacology
Psychology
Ptosis
Recombination
Segmental duplication