نتائج البحث - Andrew E. Timms
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A mutation in <i>Ccdc39</i> causes neonatal hydrocephalus with abnormal motile cilia development in mice حسب Zakia Abdelhamed, Shawn M. Vuong, Lauren M. Hill, Crystal Shula, Andrew E. Timms, David R. Beier, Kenneth Campbell, Francesco T. Mangano, Rolf W. Stottmann, June Goto
منشور في 2018Artigo -
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A novel rasopathy caused by recurrent de novo missense mutations in <i>PPP1CB</i> closely resembles Noonan syndrome with loose anagen hair حسب Karen W. Gripp, Kimberly A. Aldinger, James T. Bennett, Laura Baker, Jessica Tusi, Nina Powell‐Hamilton, Deborah L. Stabley, Katia Sol‐Church, Andrew E. Timms, William B. Dobyns
منشور في 2016Artigo -
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Mapping the <i>cis</i> -regulatory architecture of the human retina reveals noncoding genetic variation in disease حسب Timothy J. Cherry, Marty G. Yang, David A. Harmin, Peter Tao, Andrew E. Timms, Miriam Bauwens, Rando Allikmets, Evan Jones, Rui Chen, Elfride De Baere, Michael E. Greenberg
منشور في 2020Artigo -
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Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations حسب Kaitlyn Zenner, Chi Vicky Cheng, Dana M. Jensen, Andrew E. Timms, Giridhar M. Shivaram, Randall A. Bly, Sheila Ganti, Kathryn B. Whitlock, William B. Dobyns, Jonathan A. Perkins, James T. Bennett
منشور في 2019Artigo -
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Whole-Genome Screening in Ankylosing Spondylitis: Evidence of Non-MHC Genetic-Susceptibility Loci حسب Steven H. Laval, Andrew E. Timms, Steve Edwards, L Bradbury, Sinèad Brophy, Anita Milicic, Laurence A. Rubin, Katherine A. Siminovitch, Daniel E. Weeks, Andrei Călin, B P Wordsworth, Matthew A. Brown
منشور في 2001Artigo -
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Cell-specific cis-regulatory elements and mechanisms of non-coding genetic disease in human retina and retinal organoids حسب Eric D. Thomas, Andrew E. Timms, Sarah Giles, Sarah Harkins‐Perry, Pin Lyu, Thanh Hoang, Jiang Qian, Victoria E. Jackson, Melanie Bahlo, Seth Blackshaw, Martin Friedlander, Kevin Eade, Timothy J. Cherry
منشور في 2022Artigo -
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Adaptations in Hippo-Yap signaling and myofibroblast fate underlie scar-free ear appendage wound healing in spiny mice حسب Chris M. Brewer, Branden R. Nelson, Paul Wakenight, Sarah Collins, Daryl M. Okamura, Xiu Rong Dong, William M. Mahoney, Aaron McKenna, Jay Shendure, Andrew E. Timms, Kathleen J. Millen, Mark W. Majesky
منشور في 2021Artigo -
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Autosomal Dominant Familial Calcium Pyrophosphate Dihydrate Deposition Disease Is Caused by Mutation in the Transmembrane Protein ANKH حسب Charlene J. Williams, Yun Zhang, Andrew E. Timms, Gina Bonavita, Francisco Caeiro, John Broxholme, Jonathan Cuthbertson, E. Yvonne Jones, Raul Marchegiani, Antonio J. Reginato, R.G.G. Russell, B P Wordsworth, Andrew Carr, Matthew A. Brown
منشور في 2002Artigo -
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The Interleukin 1 Gene Cluster Contains a Major Susceptibility Locus for Ankylosing Spondylitis حسب Andrew E. Timms, Alison M. Crane, Anne-Marie Sims, Heather J. Cordell, Linda A. Bradbury, Aaron Abbott, Mark Coyne, O Beynon, I. Herzberg, Gordon W. Duff, Andrei Călin, Lon R. Cardon, B P Wordsworth, Matthew A. Brown
منشور في 2004Artigo -
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Gene regulatory networks controlling temporal patterning, neurogenesis, and cell-fate specification in mammalian retina حسب Pin Lyu, Thanh Hoang, Clayton P. Santiago, Eric D. Thomas, Andrew E. Timms, Haley Appel, Megan Y. Gimmen, Nguyet Le, Lizhi Jiang, Dong Won Kim, Siqi Chen, David F. Espinoza, Ariel E. Telger, Kurt Weir, Brian S. Clark, Timothy J. Cherry, Jiang Qian, Seth Blackshaw
منشور في 2021Artigo -
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Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly حسب Nataliya Di Donato, Andrew E. Timms, Kimberly A. Aldinger, Ghayda Mirzaa, James T. Bennett, Sarah Collins, Carissa Olds, Davide Mei, Sara Chiari, Gemma L. Carvill, Candace T. Myers, Jean‐Baptiste Rivière, Maha S. Zaki, Joseph G. Gleeson, Andreas Rump, Valerio Conti, Elena Parrini, M. Elizabeth Ross, David H. Ledbetter, Renzo Guerrini, William B. Dobyns
منشور في 2018Artigo -
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Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum حسب Parthiv Haldipur, Kimberly A. Aldinger, Silvia Bernardo, Mei Deng, Andrew E. Timms, Lynne M. Overman, Conrad Winter, Steven Lisgo, Razavi, Evelina Silvestri, Lucia Manganaro, Homa Adle‐Biassette, Fabien Guimiot, Rosa Russo, Debora Kidron, Patrick R. Hof, Dianne Gerrelli, Susan Lindsay, William B. Dobyns, Ian Glass, Paula Alexandre, Kathleen J. Millen
منشور في 2019Artigo -
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Spatial and cell type transcriptional landscape of human cerebellar development حسب Kimberly A. Aldinger, Zachary Thomson, Ian G. Phelps, Parthiv Haldipur, Mei Deng, Andrew E. Timms, Matthew Hirano, Gabriel Santpere, Charles M. Roco, Alexander Rosenberg, Belén Lorente-Galdós, Forrest O. Gulden, Diana R. O’Day, Lynne M. Overman, Steven Lisgo, Paula Alexandre, Nenad Šestan, Dan Doherty, William B. Dobyns, Georg Seelig, Ian Glass, Kathleen J. Millen
منشور في 2021Artigo -
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Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care حسب Filomena Pirozzi, Matthew Berkseth, Rylee Shear, Lorenzo Gonzalez, Andrew E. Timms, Josef Šulc, Emily Pao, Nora Oyama, Francesca Forzano, Valerio Conti, Renzo Guerrini, Emily S Doherty, Sulagna C. Saitta, Christina M. Lockwood, Colin C. Pritchard, William B. Dobyns, Edward J. Novotny, Jason N. Wright, Russell P. Saneto, Seth D. Friedman, Jason S. Hauptman, Jeffrey G. Ojemann, Raj P. Kapur, Ghayda Mirzaa
منشور في 2021Artigo -
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Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia حسب Christopher N Hahn, Chan‐Eng Chong, Catherine Carmichael, Ella Wilkins, Peter J Brautigan, Xiaochun Li, Milena Babic, Ming Lin, Amandine Carmagnac, Young Kyung Lee, Chung Hoow Kok, Lucia Gagliardi, Kathryn Friend, Paul G. Ekert, Carolyn M Butcher, Anna Brown, Ian D. Lewis, L.B. To, Andrew E. Timms, Jan Storek, Sarah Moore, Meryl Altree, Robert Escher, Peter Bardy, Graeme Suthers, Richard J. D’Andrea, Marshall S. Horwitz, Hamish S. Scott
منشور في 2011Artigo -
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Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study حسب Ghayda Mirzaa, Valerio Conti, Andrew E. Timms, Christopher D. Smyser, Sarah Ahmed, Melissa Carter, Sarah Barnett, Robert B. Hufnagel, Amy Goldstein, Yoko Narumi‐Kishimoto, Carissa Olds, Sarah Collins, Kathreen Johnston, Jean‐François Deleuze, Patrick Nitschké, Kathryn Friend, Catharine Harris, Allison L. Goetsch, Beth Martin, Evan A. Boyle, Elena Parrini, Davide Mei, Lorenzo Tattini, Anne Slavotinek, Ed Blair, Christopher Barnett, Jay Shendure, Jamel Chelly, William B. Dobyns, Renzo Guerrini
منشور في 2015Artigo -
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Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis حسب James T. Bennett, Tiong Yang Tan, Diana Alcantara, Martine Tétrault, Andrew E. Timms, Dana M. Jensen, Sarah Collins, Małgorzata J.M. Nowaczyk, Marjorie J. Lindhurst, Katherine Christensen, Stephen R. Braddock, Heather A. Brandling‐Bennett, Raoul C. M. Hennekam, Brian Hon‐Yin Chung, Anna Lehman, John Su, SuYuen Ng, David J. Amor, Jacek Majewski, Les Biesecker, Kym M. Boycott, William B. Dobyns, Mark O’Driscoll, Ute Moog, Laura M. McDonell
منشور في 2016Artigo -
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Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly حسب Diana Alcantara, Andrew E. Timms, Karen W. Gripp, Laura Baker, Kaylee Park, Sarah Collins, Chi Vicky Cheng, Fiona Stewart, Sarju Mehta, Anand Saggar, László Sztriha, Melinda Zombor, Oana Caluseriu, Ronit Mesterman, Margot I. Van Allen, Adeline Jacquinet, Sofia Ygberg, Jonathan A. Bernstein, Aaron M. Wenger, Harendra Guturu, Gill Bejerano, Natalia Gomez‐Ospina, Anna Lehman, Enrico Alfei, Chiara Pantaleoni, Valerio Conti, Renzo Guerrini, Ute Moog, John M. Graham, Robert F. Hevner, William B. Dobyns, Mark O’Driscoll, Ghayda Mirzaa
منشور في 2017Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Genetics
Gene
Medicine
Mutation
Neuroscience
Phenotype
Cell biology
Pathology
Anatomy
Epilepsy
Exome sequencing
Immunology
Missense mutation
Cancer research
Polymicrogyria
Transcription factor
Allele
Cerebellum
Cilium
Computational biology
Cortical dysplasia
Genome
Haploinsufficiency
Megalencephaly
PI3K/AKT/mTOR pathway
Retina
Signal transduction
Ankylosing spondylitis
Aqueductal stenosis