検索結果 - Ian Glass
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Joubert syndrome (and related disorders) (OMIM 213300) 著者: Melissa A. Parisi, Dan Doherty, Phillip F. Chance, Ian Glass
出版事項 2007Artigo -
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The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis Is Present in a Subset of Individuals with Joubert Syndrome 著者: Melissa A. Parisi, Craig L. Bennett, Melissa Eckert, William B. Dobyns, Joseph G. Gleeson, Dennis Shaw, Ruth McDonald, Allison A. Eddy, Phillip F. Chance, Ian Glass
出版事項 2004Artigo -
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Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior Loken syndrome 著者: Josiane Hélou, Edgar A. Otto, Massimo Attanasio, S. J. Allen, Melissa A. Parisi, Ian Glass, Boris Utsch, S. Hashmi, Elisa Fazzi, Heymut Omran, John F. O’Toole, John A. Sayer, Friedhelm Hildebrandt
出版事項 2007Carta -
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Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity 著者: Gisele E. Ishak, Jennifer C. Dempsey, Dennis Shaw, Hannah M. Tully, Margaret P Adam, Pedro A. Sanchez‐Lara, Ian Glass, Tessa Rue, Kathleen J. Millen, William B. Dobyns, Dan Doherty
出版事項 2012Artigo -
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Single-Cell Transcriptomic Comparison of Human Fetal Retina, hPSC-Derived Retinal Organoids, and Long-Term Retinal Cultures 著者: Akshayalakshmi Sridhar, Akina Hoshino, Connor Finkbeiner, Alex Chitsazan, Li Dai, Alexandra K. Haugan, Kayla M. Eschenbacher, Dana L. Jackson, Cole Trapnell, Olivia Bermingham‐McDonogh, Ian Glass, Thomas A. Reh
出版事項 2020Artigo -
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Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center 著者: Brian P. Brooks, Wadih M. Zein, A. Thompson, Maryam Mokhtarzadeh, Dan Doherty, Melissa A. Parisi, Ian Glass, May Christine V. Malicdan, Thierry Vilboux, Meghana Vemulapalli, James C. Mullikin, William A. Gahl, Meral Gunay‐Aygun
出版事項 2018Artigo -
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Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes 著者: Brittany N. Whitley, Christina Lam, Hong Cui, Katrina Haude, Renkui Bai, Luis Escobar, Afifa Hamilton, Lauren Brady, Mark A. Tarnopolsky, Lauren Dengle, Jonathan Picker, Sharyn A. Lincoln, Laura L. Lackner, Ian Glass, Suzanne Hoppins
出版事項 2018Artigo -
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Mapping Development of the Human Intestinal Niche at Single-Cell Resolution 著者: Emily M. Holloway, Michael Czerwinski, Yu-Hwai Tsai, Joshua H. Wu, Angeline Wu, Charlie J. Childs, Katherine D. Walton, Caden W. Sweet, Qianhui Yu, Ian Glass, Barbara Treutlein, J. Gray Camp, Jason R. Spence
出版事項 2020Artigo -
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Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction 著者: Miroslav P. Milev, Megan E. Grout, Djenann Saint‐Dic, Yong-Han Hank Cheng, Ian Glass, Christopher J. Hale, D. Hanna, Michael O. Dorschner, Keshika Prematilake, Avraham Shaag, Orly Elpeleg, Michael Sacher, Dan Doherty, Simon Edvardson
出版事項 2017Artigo -
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R-SPONDIN2 mesenchymal cells form the bud tip progenitor niche during human lung development 著者: Renee Hein, Joshua H. Wu, Emily M. Holloway, Tristan Frum, Ansley S. Conchola, Yu-Hwai Tsai, Angeline Wu, Alexis S. Fine, Alyssa J. Miller, Emmanuelle Szenker‐Ravi, Kelley S. Yan, Calvin J. Kuo, Ian Glass, Bruno Reversade, Jason R. Spence
出版事項 2022Artigo -
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Retinoic acid signaling regulates spatiotemporal specification of human green and red cones 著者: Sarah E. Hadyniak, Joanna F. D. Hagen, Kiara C. Eldred, Boris Brenerman, Katarzyna A. Hussey, Rajiv C. McCoy, Michael Sauria, James A. Kuchenbecker, Thomas A. Reh, Ian Glass, Maureen Neitz, Jay Neitz, James Taylor, Robert J. Johnston
出版事項 2024Artigo -
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The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda 著者: Ági K. Gedeon, George E. Tiller, M. Le Merrer, S. Heuertz, Lisbeth Tranebjærg, David Chitayat, Stephen P. Robertson, Ian Glass, Ravi Savarirayan, William G. Cole, David L. Rimoin, Boris G. Kousseff, Hirofumi Ohashi, Bernhard Zabel, Arnold Münnich, Jozef Gécz, John C. Mulley
出版事項 2001Artigo -
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Prospective Evaluation of Kidney Disease in Joubert Syndrome 著者: Leah R. Fleming, Daniel Doherty, Melissa A. Parisi, Ian Glass, Joy Bryant, Roxanne Fischer, Barış Türkbey, Peter L. Choyke, Kailash Daryanani, Meghana Vemulapalli, James C. Mullikin, May Christine V. Malicdan, Thierry Vilboux, John A. Sayer, William A. Gahl, Meral Gunay‐Aygun
出版事項 2017Artigo
関連主題
Biology
Genetics
Gene
Cell biology
Medicine
Neuroscience
Phenotype
Joubert syndrome
Computational biology
Internal medicine
Stem cell
Pathology
Cilium
Gene expression
Mutation
Anatomy
Ciliopathy
Genome
Immunology
Progenitor cell
Cerebellum
Transcriptome
Biochemistry
Cell
Disease
Exome sequencing
Transcription factor
Endocrinology
Fetus
Organoid