Resultados da pesquisa - Cassandre Labelle‐Dumais
- A mostrar 1 - 11 resultados de 11
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Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by <i>Col4a1 and Col4a2</i> mutations Por Debbie S. Kuo, Cassandre Labelle‐Dumais, Mao Mao, Marion Jeanne, W. Berkeley Kauffman, J. Allen, Jack Favor, Douglas B. Gould
Publicado em 2013Artigo -
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PI3K block restores age-dependent neurovascular coupling defects associated with cerebral small vessel disease Por Pratish Thakore, Evan Yamasaki, Sher Ali, Alfredo Sanchez Solano, Cassandre Labelle‐Dumais, Xiao Gao, Myriam M. Chaumeil, Douglas B. Gould, Scott Earley
Publicado em 2023Artigo -
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COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity Por Cassandre Labelle‐Dumais, Vera Schuitema, Genki Hayashi, Kendall Hoff, Wenhui Gong, Dang Q. Dao, Erik M. Ullian, Peter Oishi, Marta Margeta, Douglas B. Gould
Publicado em 2019Artigo -
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COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke Por Marion Jeanne, Cassandre Labelle‐Dumais, Jeff Jorgensen, W. Berkeley Kauffman, Grazia M.S. Mancini, Jack Favor, Valerie Valant, Steven M. Greenberg, Jonathan Rosand, Douglas B. Gould
Publicado em 2011Artigo -
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<i>COL4A1</i> mutations in patients with sporadic late‐onset intracerebral hemorrhage Por Yi‐Chinn Weng, Akshata Sonni, Cassandre Labelle‐Dumais, Michelle de Leau, W. Berkeley Kauffman, Marion Jeanne, Alessandro Biffi, Steven M. Greenberg, Jonathan Rosand, Douglas B. Gould
Publicado em 2011Artigo -
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COL4A1 Mutations Cause Ocular Dysgenesis, Neuronal Localization Defects, and Myopathy in Mice and Walker-Warburg Syndrome in Humans Por Cassandre Labelle‐Dumais, David J. Dilworth, Colleen T. Harrington, Michelle de Leau, David Lyons, Zhyldyz Kabaeva, M. Chiara Manzini, William B. Dobyns, Christopher A. Walsh, Daniel E. Michele, Douglas B. Gould
Publicado em 2011Artigo -
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Müller glia-derived PRSS56 is required to sustain ocular axial growth and prevent refractive error Por Seyyedhassan Paylakhi, Cassandre Labelle‐Dumais, Nicholas Tolman, Michael A. Sellarole, Yusef Seymens, Joseph Saunders, Hesham Lakosha, Wilhelmine N. deVries, Andrew Orr, Piotr Topilko, Simon W. M. John, K. Saidas Nair
Publicado em 2018Artigo -
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Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1 Por Anne Slavotinek, Sergio E. Baranzini, Denny Schanze, Cassandre Labelle‐Dumais, Kieran M. Short, Richard C. Chao, Mani Yavi, Emilia K. Bijlsma, Catherine Chu, Stacy L. Musone, Amanda Wheatley, Pui‐Yan Kwok, Sandra L. Marles, J. P. Fryns, A. Murat Maga, Mohamed G. Hassan, Douglas B. Gould, Lohith Madireddy, Chumei Li, Timothy C. Cox, Ian Smyth, Albert E. Chudley, Martin Zenker
Publicado em 2011Artigo
Ferramentas de pesquisa:
Assuntos relacionados
Biology
Genetics
Medicine
Gene
Mutation
Cell biology
Disease
Pathology
Endocrinology
Internal medicine
Mutant
Biochemistry
Dysgenesis
Genome
Myopathy
Neuroscience
Nonsynonymous substitution
Signal transduction
Allele
Allelic heterogeneity
Anal atresia
Anatomy
Anophthalmia
Arteriole
Atresia
Axon
Axon guidance
Beta-catenin
Blastocyst
CHARGE syndrome