Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Jeannie Visootsak"'
Autor:
Elizabeth Berry-Kravis, Randi Hagerman, Jeannie Visootsak, Dejan Budimirovic, Walter E. Kaufmann, Maryann Cherubini, Peter Zarevics, Karen Walton-Bowen, Paul Wang, Mark F. Bear, Randall L. Carpenter
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 9, Iss 1, Pp 1-18 (2017)
Abstract Background Arbaclofen improved multiple abnormal phenotypes in animal models of fragile X syndrome (FXS) and showed promising results in a phase 2 clinical study. The objective of the study is to determine safety and efficacy of arbaclofen f
Externí odkaz:
https://doaj.org/article/1600842ad64c4a2f93f317a6e4ba061b
Autor:
Mickael Poidevin, Valeria Cavalli, Pan Yue Deng, Joshua A. Suhl, Stephen T. Warren, Hideharu Hashimoto, Xiaodong Cheng, Yongcheol Cho, Leila K. Myrick, Peng Jin, Vitaly A. Klyachko, Young Mi Oh, Jeannie Visootsak
Publikováno v:
Proceedings of the National Academy of Sciences. 112:949-956
Fragile X syndrome (FXS) results in intellectual disability (ID) most often caused by silencing of the fragile X mental retardation 1 (FMR1) gene. The resulting absence of fragile X mental retardation protein 1 (FMRP) leads to both pre- and postsynap
Autor:
Tovi Anderson, Dawn Laney, Heather Clark, Heather S. Hipp, Elizabeth Berry-Kravis, Jeannie Visootsak
Publikováno v:
The Journal of Pediatrics. 164:1292-1295
Objective To determine the average number of family members diagnosed with a Fragile X Mental Retardation-1 ( FMR1 ) mutation after a proband receives the initial diagnosis of fragile X syndrome (FXS). Study design We reviewed pedigrees of families w
Publikováno v:
Brain Sciences
Brain Sciences, Vol 8, Iss 12, p 214 (2018)
Brain Sciences, Vol 8, Iss 12, p 214 (2018)
Fragile X syndrome (FXS) is the leading known cause of inherited intellectual disability and autism spectrum disorder. It is caused by a mutation of the fragile X mental retardation 1 (FMR1) gene, resulting in a deficit of fragile X mental retardatio
Publikováno v:
Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::56051a43cb111d6afe3212ef519aa2d8
https://doi.org/10.1093/med/9780199934522.003.0158
https://doi.org/10.1093/med/9780199934522.003.0158
Autor:
Randi J Hagerman, Marc Brinkman, Barbara Koumaras, Thomas Jaecklin, Sébastien Jacquemont, Gottfried Maria Barth, George Apostol, Elizabeth Berry-Kravis, Florian Von Raison, Karin Rerat, Perrine Charles, Liansheng Zhu, Jeannie Visootsak, Vincent des Portes
Publikováno v:
Science Translational Medicine. 8
Fragile X syndrome (FXS), the most common cause of inherited intellectual disability and autistic spectrum disorder, is typically caused by transcriptional silencing of the X-linked FMR1 gene. Work in animal models has described altered synaptic plas
Autor:
Joshua A. Suhl, Ravi S. Muddashetty, Gary J. Bassell, Stephen T. Warren, Jeannie Visootsak, Bart R. Anderson, Marius F. Ifrim
Publikováno v:
Proceedings of the National Academy of Sciences. 112
Fragile X syndrome is a common cause of intellectual disability and autism spectrum disorder. The gene underlying the disorder, fragile X mental retardation 1 (FMR1), is silenced in most cases by a CGG-repeat expansion mutation in the 5' untranslated
Publikováno v:
European Journal of Human Genetics. 16:666-672
Fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is associated with intellectual and emotional disabilities ranging from learning problems to mental retardation, and mood instability to autism. It is most often caused by the
Autor:
Rebecca Kronk, Carol Delahunty, Jeannie Visootsak, Louise W. Gane, Nicole Tartaglia, David R Hessl, Elizabeth Berry-Kravis, Michele Y. Ono, Walter E. Kaufmann, Jonathan Picker, Ave M. Lachiewicz, Randi J Hagerman, Michael Tranfaglia
The FMR1 mutations can cause a variety of disabilities, including cognitive deficits, attention-deficit/hyperactivity disorder, autism, and other socioemotional problems, in individuals with the full mutation form (fragile X syndrome) and distinct di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6d7c82efcbb61fe64ed2938aeef0326
https://europepmc.org/articles/PMC2888470/
https://europepmc.org/articles/PMC2888470/
Autor:
Tao Wang, Karen N. Conneely, Stephen T. Warren, Pankaj Chopra, Reid S. Alisch, Jeannie Visootsak
Publikováno v:
BMC Medical Genetics
Background Fragile X syndrome (FXS) is a common form of inherited intellectual disability caused by an expansion of CGG repeats located in the 5′ untranslated region (UTR) of the FMR1 gene, which leads to hypermethylation and silencing of this locu