Zobrazeno 1 - 10
of 94
pro vyhledávání: '"Bronya J.B. Keats"'
Autor:
M. Anne Spence, S Yee, Terry J. Hassold, Sarah Ennis, John A. Crolla, D. C. Rao, Bronya J.B. Keats, Stephanie L. Sherman, Aravinda Chakravarti, Robert C. Elston, Neil Risch
Publikováno v:
The American Journal of Human Genetics. 102:1011-1017
Autor:
Stylianos E. Antonarakis, T. Mark Beasley, Darci T. Butcher, Lucas Calais-Ferreira, Rita M. Cantor, Stephen D. Cederbaum, Sanaa Choufani, Jackie Cook, David N. Cooper, Jeffrey M. Craig, Michael R. Crowley, Cheryl Cytrynbaum, Allison Fialkowski, Geoffrey S. Ginsburg, Wayne W. Grody, Susanne B. Haga, Judith G. Hall, Madhuri R. Hegde, Fuki M. Hisama, H. Richard Johnston, Bronya J.B. Keats, Bruce R. Korf, Marie T. Lott, George M. Martin, Fady M. Mikhail, Daniel W. Nebert, Junko Oshima, Vincent Procaccio, Reed E. Pyeritz, Katrina J. Scurrah, Stephanie L. Sherman, Michelle T. Siu, Hemant K. Tiwari, Benjamin Tycko, Mark P. Umstad, Douglas C. Wallace, Rosanna Weksberg, Ge Zhang
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e1ab35a5adf8821aa1074199bc7c558f
https://doi.org/10.1016/b978-0-12-812537-3.01002-7
https://doi.org/10.1016/b978-0-12-812537-3.01002-7
Autor:
Lawrence R. Lustig, Thomas J. Hoffmann, Noriko Yoshikawa, Bronya J.B. Keats, Neil Risch, Catherine Schaefer
Publikováno v:
PLoS Genetics, Vol 12, Iss 10, p e1006371 (2016)
PLoS Genetics
PLoS Genetics
Age-related hearing impairment (ARHI), one of the most common sensory disorders, can be mitigated, but not cured or eliminated. To identify genetic influences underlying ARHI, we conducted a genome-wide association study of ARHI in 6,527 cases and 45
Autor:
Philip Washbourne, Philip F. Han, Srirangan Sampath, Alexandra Tallafuss, Zachary G. Jacobs, Bernardo Blanco-Sánchez, Kornnika Khanobdee, Monte Westerfield, Monalisa Mishra, Jennifer B. Phillips, David S. Williams, Jennifer J Lentz, Bronya J.B. Keats, Tom A. Titus
Publikováno v:
Disease Models & Mechanisms, Vol 4, Iss 6, Pp 786-800 (2011)
Disease Models & Mechanisms
Disease Models & Mechanisms
SUMMARY Usher syndrome is the most prevalent cause of hereditary deaf-blindness, characterized by congenital sensorineural hearing impairment and progressive photoreceptor degeneration beginning in childhood or adolescence. Diagnosis and management o
Autor:
Glen MacDonald, Edwin W. Rubel, Carol A. Robbins, Dale E. Cunningham, Hamilton E. Farris, William C. Gordon, Nicolas G. Bazan, Bruce L. Tempel, Jennifer J Lentz, Bronya J.B. Keats, Elizabeth C. Oesterle
Publikováno v:
Developmental Neurobiology. 70:253-267
Usher syndrome is the leading cause of combined deaf-blindness, but the molecular mechanisms underlying the auditory and visual impairment are poorly understood. Usher I is characterized by profound congenital hearing loss, vestibular dysfunction and
Publikováno v:
Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis. 616:139-144
Usher syndrome is the most common cause of inherited deafness found in combination with blindness. All Usher patients suffer progressive retinitis pigmentosa, with the degree of hearing impairment and the presence or absence of vestibular function di
Autor:
Bronya J.B. Keats
Publikováno v:
The ASHA Leader. 12:13-17
Publikováno v:
Seminars in Hearing. 27:136-147
Autor:
Bronya J.B. Keats
Publikováno v:
The ASHA Leader. 10:6-18
Of mice and men (and myosins) the myosin - molecular motor is necessary for hearing in humans and mice - a review of DFNB3 and shaker mouse models and progress in human deafness research physical maps as molecular tools to identify disease genes gene