Zobrazeno 1 - 10
of 75
pro vyhledávání: '"Marci M. Lesperance"'
Autor:
Joan C. Arvedson, Fuad M. Baroody, Lauren A. Bohm, Scott E. Brietzke, Jennifer V. Brinkmeier, Michael Broderick, Yi Cai, Paolo Campisi, Simon D. Carr, Ivette Cejas, Kay W. Chang, Alan G. Cheng, Alan T.L. Cheng, Sukgi S. Choi, Robert H. Chun, Sharon L. Cushing, Sam J. Daniel, Kavita Dedhia, Joshua C. Demke, Craig S. Derkay, Lynn E. Driver, Laurie Eisenberg, Anila B. Elliott, Ravindhra G. Elluru, Howard W. Francis, Nira A. Goldstein, Nathan J. Gonik, M. Elise Graham, Glenn E. Green, Andrew J. Griffith, J. Fredrik Grimmer, Catherine A. Gruffi, Jennifer F. Ha, Ashlee E. Holman, Keiji Honda, Jad Jabbour, Robert K. Jackler, Adrian L. James, Taha A. Jan, Bradley W. Kesser, Jennifer Kim, Elizabeth Knecht, Claire Lawlor, Marci M. Lesperance, Edward R. Lee, Jeremy D. Meier, Anna H. Messner, Anna Meyer, Henry A. Milczuk, Harlan R. Muntz, Marc E. Nelson, Richard J. Noel, Richard G. Ohye, Blake C. Papsin, Albert H. Park, Jonathan A. Perkins, Bailey Pierce, Michael P. Puglia, Reza Rahbar, Brianne B. Roby, Kristina W. Rosbe, Richard M. Rosenfeld, Cara L. Sauder, Anne G.M. Schilder, Scott R. Schoem, Yehuda Schwarz, Douglas R. Sidell, Jonathan R. Skirko, Sherard A. Tatum, Aaron L. Thatcher, Roderick P. Venekamp, Tom D. Wang, Carlton J. Zdanski, David A. Zopf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::565b1a7c047a54416b69766b0a7e984a
https://doi.org/10.1016/b978-0-323-69618-0.01002-7
https://doi.org/10.1016/b978-0-323-69618-0.01002-7
Publikováno v:
PLoS ONE, Vol 8, Iss 2, p e56520 (2013)
We previously demonstrated that a mutation in the 5' untranslated region of Diaphanous homolog 3 (DIAPH3) results in 2 to 3-fold overexpression of the gene, leading to a form of delayed onset, progressive human deafness known as AUNA1 (auditory neuro
Externí odkaz:
https://doaj.org/article/4b7db49c9e87468ea3660a1f235349f4
Autor:
Marci M. Lesperance
Indispensable for all otolaryngologists who see children in their practice, as well as fellows and others in training, Cummings Pediatric Otolaryngology offers comprehensive, state-of-the-art coverage for evaluation and treatment of children with oto
Publikováno v:
Otology & Neurotology. 36:1651-1656
Objective: To describe the human temporal bone histopathology in NOG-related symphalangism spectrum disorder, a spectrum of congenital stape fixation syndromes caused by mutations in the NOG gene. To discuss implications for clinical management. Pati
Autor:
Katherine D. Heidenreich, Paul R. Kileny, Sameer Ahmed, Hussam K. El-Kashlan, Marci M. Lesperance, Tori L. Melendez, Gregory J. Basura
Publikováno v:
JAMA otolaryngology-- headneck surgery. 143(7)
Importance Superior canal dehiscence syndrome (SCDS) is an increasingly recognized cause of hearing loss and vestibular symptoms, but the etiology of this condition remains unknown. Objective To describe 7 cases of SCDS across 3 families. Design, Set
Publikováno v:
International Journal of Pediatric Otorhinolaryngology. 79:929-931
Frey’s syndrome in children is rare and often erroneously attributed to food allergy. Here we describe a case of Frey’s syndrome in an infant and provide a review of the literature. Awareness of this condition is important for the Otolaryngologis
Autor:
Leila A. Mankarious, Tara Rachakonda, Jennifer J. Shin, Marci M. Lesperance, Judith E. C. Lieu, Robert J. Fanning, Donna B. Jeffe
Publikováno v:
The Laryngoscope. 124:570-578
Objectives The prevalence of hearing loss (HL) in adolescents has grown over the past decade, but hearing-related quality of life (QOL) has not been well-measured. We sought to develop a reliable, valid measure of hearing-related QOL for adolescents,
Publikováno v:
Journal of genetic counseling. 27(3)
The aim of this study was to obtain patient and parent perspectives on genetic evaluation of hearing loss, in order to identify motivators, expectations, and barriers. Three focus groups were conducted following a semi-structured discussion guide, le
Remodeling of the Inner Hair Cell Microtubule Meshwork in a Mouse Model of Auditory Neuropathy AUNA1
Autor:
Régis Nouvian, Willy Joly, Marci M. Lesperance, Clément Surel, Gaston Sendin, Jérôme Bourien, Jean-Luc Puel, Benjamin Delprat, Marc Lenoir, Marie Guillet
Publikováno v:
eNeuro
eNeuro, Society for Neuroscience, 2016, 3 (6), pp.e0295-16.2016. ⟨10.1523/ENEURO.0295-16.2016⟩
eNeuro, Society for Neuroscience, 2016, 3 (6), pp.e0295-16.2016. ⟨10.1523/ENEURO.0295-16.2016⟩
Auditory neuropathy 1 (AUNA1) is a form of human deafness resulting from a point mutation in the 5′ untranslated region of theDiaphanous homolog 3(DIAPH3) gene. Notably, theDIAPH3mutation leads to the overexpression of the DIAPH3 protein, a formin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e38f9f00375191b4cc70ac47cca53d4
https://www.hal.inserm.fr/inserm-02380051
https://www.hal.inserm.fr/inserm-02380051
Publikováno v:
International journal of pediatric otorhinolaryngology. 95
Introduction The advent of chromosome microarray analysis (CMA) for evaluation of patients with multiple congenital anomalies has made it possible to define chromosomal imbalances with greater precision and resolutions significantly smaller than poss