Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Arthur A. Beisang"'
Autor:
Caroline B. Buchanan, Jennifer L. Stallworth, Aubin E. Joy, Rebekah E. Dixon, Alexandra E. Scott, Arthur A. Beisang, Timothy A. Benke, Daniel G. Glaze, Richard H. Haas, Peter T. Heydemann, Mary D. Jones, Jane B. Lane, David N. Lieberman, Eric D. Marsh, Jeffrey L. Neul, Sarika U. Peters, Robin C. Ryther, Steve A. Skinner, Shannon M. Standridge, Walter E. Kaufmann, Alan K. Percy
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 14, Iss 1, Pp 1-11 (2022)
Abstract Background Rett syndrome (RTT) is a neurodevelopmental disorder most often related to a pathogenic variant in the X-linked MECP2 gene. Internalizing behaviors appear to be common, but standard methods of diagnosing anxiety are not readily ap
Externí odkaz:
https://doaj.org/article/8aae0854010443cb93ccd08bb6de4fed
Autor:
Breanne J. Byiers, Alyssa M. Merbler, Chantel C. Barney, Kristin A. Frenn, Angela Panoskaltsis-Mortari, Michael J. Ehrhardt, Timothy J. Feyma, Arthur A. Beisang, Frank Symons
Publikováno v:
Brain, Behavior, & Immunity - Health, Vol 1, Iss , Pp 100008- (2020)
Background: Immune dysregulation may play a role in the development of Rett syndrome (RTT), a neurodevelopmental disorder caused by mutations of the MECP2 gene. Abnormal cytokine concentrations have been documented in the serum of individuals with RT
Externí odkaz:
https://doaj.org/article/eebacc8e255544558ee628c5441ce697
Autor:
Arthur Allen Beisang, Danielle Dupuis, Rhonda Cady, Karl Nelsen, Soraya Beiraghi, Erica Barnes
Background Approximately 15% of rare diseases present with orofacial manifestations, placing oral health providers in front-line positions for timely diagnosis. A recent study investigated barriers to care from the perspective of people living with a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::78485816385603a723b7efa386450aac
https://doi.org/10.21203/rs.3.rs-2621747/v1
https://doi.org/10.21203/rs.3.rs-2621747/v1
Autor:
Jeffrey L. Neul, David N. Lieberman, Sarika U. Peters, Daniel G. Glaze, Peter Heydeman, Mary Jones, Timothy Feyma, Eric D. Marsh, Steve A. Skinner, Shannon Michelle Standridge, Bernard Suter, Tim A. Benke, Arthur A. Beisang, Robin C. C. Ryther, Cary Fu, Alan K. Percy
Publikováno v:
Am J Med Genet A
Background MECP2 Duplication syndrome (MDS) is a rare X-linked genomic disorder that is caused by interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. Although phenotypic features in MDS have been described, there is a limited u
Autor:
Caroline B. Buchanan, Jennifer L. Stallworth, Aubin E. Joy, Rebekah E. Dixon, Alexandra E. Scott, Arthur A. Beisang, Timothy A. Benke, Daniel G. Glaze, Richard H. Haas, Peter T. Heydemann, Mary D. Jones, Jane B. Lane, David N. Lieberman, Eric D. Marsh, Jeffrey L. Neul, Sarika U. Peters, Robin C. Ryther, Steve A. Skinner, Shannon M. Standridge, Walter E. Kaufmann, Alan K. Percy
Publikováno v:
Journal of neurodevelopmental disorders. 14(1)
Background Rett syndrome (RTT) is a neurodevelopmental disorder most often related to a pathogenic variant in the X-linked MECP2 gene. Internalizing behaviors appear to be common, but standard methods of diagnosing anxiety are not readily applied in
Autor:
Frank J. Symons, Breanne J. Byiers, Chantel C. Barney, Alyssa M. Merbler, Michael J. Ehrhardt, Kristin A. Frenn, Arthur A. Beisang, Angela Panoskaltsis-Mortari, Timothy Feyma
Publikováno v:
Brain, Behavior, & Immunity-Health
Brain, Behavior, & Immunity-Health, Vol 1, Iss, Pp 100008-(2020)
Brain, Behavior, & Immunity-Health, Vol 1, Iss, Pp 100008-(2020)
Background Immune dysregulation may play a role in the development of Rett syndrome (RTT), a neurodevelopmental disorder caused by mutations of the MECP2 gene. Abnormal cytokine concentrations have been documented in the serum of individuals with RTT
Autor:
Xiaolan Fang, Kameryn Butler, Richard H. Haas, Tim A. Benke, Arthur A. Beisang, Timothy Feyma, David N. Lieberman, Michael J. Friez, Mary Jones, Alan K. Percy, Peter Heydemann, Shannon M. Standridge, Fatima Abidi, Raymond Caylor, Robin C. C. Ryther, Steven A. Skinner, Eric D. Marsh, Jeffrey L. Neul, Jennifer M. Gass
Publikováno v:
Molecular Genetics and Metabolism. 132:S239
Autor:
Timothy Feyma, Frank J. Symons, Breanne J. Byiers, George L. Wilcox, Chantel C. Barney, Scott Schwantes, Alyssa M. Merbler, Samuel A. Roiko, Arthur A. Beisang, Kelsey M. Quest
Publikováno v:
Pediatric Anesthesia. 27:290-299
Background Rett syndrome is associated with severe motor and communicative impairment making optimal postoperative pain management a challenge. There are case reports documenting reduced postoperative analgesic requirement in Rett syndrome. Aim The g
Autor:
Frank J. Symons, Alyssa M. Merbler, Arthur A. Beisang, Breanne J. Byiers, John Hoch, Alessandro Bartolomucci, Chantel C. Barney, Timothy Feyma, Adele C. Dimian
Patients with Rett syndrome may manifest altered pain perception/experience and are vulnerable to conditions associated with chronic pain. Pain response is difficult to measure, however, because of severe communicative impairment. There is also docum
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7de1e644b6b9c2924917993c5fcb3f7e
https://europepmc.org/articles/PMC7098209/
https://europepmc.org/articles/PMC7098209/
Autor:
Alan K. Percy, Walter E. Kaufmann, Cary Fu, Steve A. Skinner, David N. Lieberman, Timothy Feyma, Daniel G. Glaze, Eric D. Marsh, Jeffrey L. Neul, Bernhard Suter, Sarika U. Peters, Mary Jones, Arthur A. Beisang, Tim A. Benke, Shannon M. Standridge, Robin C. C. Ryther, Peter Heydeman
Publikováno v:
Clin Genet
Individuals with methyl CpG binding protein 2 (MECP2) duplication syndrome (MDS) have varying degrees of severity in their mobility, hand use, developmental skills, and susceptibility to infections. In the present study, we examine the relationship b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f846d7cfacb39acf7613e53ea07bbd60
https://europepmc.org/articles/PMC6465105/
https://europepmc.org/articles/PMC6465105/