Zobrazeno 1 - 10
of 159
pro vyhledávání: '"Carmen C. Brewer"'
Autor:
Elizabeth H. Theng, Carmen C. Brewer, Ralf Oheim, Christopher K. Zalewski, Kelly A. King, Maximillian M. Delsmann, Tim Rolvien, Rachel I. Gafni, Demetrios T. Braddock, H. Jeffrey Kim, Carlos R. Ferreira
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background and importance Hearing loss (HL) has been sporadically described, but not well characterized, in Generalized Arterial Calcification of Infancy (GACI), a rare disease in which pathological calcification typically presents in infanc
Externí odkaz:
https://doaj.org/article/2391a5ad25bb493fb9a27fe1f7e22717
Autor:
Tanya J. Lehky, Paul Sackstein, Deborah Tamura, Martha Quezado, Tianxia Wu, Sikandar G. Khan, Nicholas J. Patronas, Edythe Wiggs, Carmen C. Brewer, John J. DiGiovanna, Kenneth H. Kraemer
Publikováno v:
BMC Neurology, Vol 21, Iss 1, Pp 1-11 (2021)
Abstract Background Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder with defective DNA nucleotide excision repair and associated with a high frequency of skin cancer. Approximately 25% of patients develop progressive neurolo
Externí odkaz:
https://doaj.org/article/f7051e840cc646e6b5885748c6f752bb
Autor:
Janet R. Chao, Parna Chattaraj, Tina Munjal, Keiji Honda, Kelly A. King, Christopher K. Zalewski, Wade W. Chien, Carmen C. Brewer, Andrew J. Griffith
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)
Abstract Background Recessive mutations of coding regions and splice sites of the SLC26A4 gene cause hearing loss with enlargement of the vestibular aqueduct (EVA). Some patients also have a thyroid iodination defect that can lead to multinodular goi
Externí odkaz:
https://doaj.org/article/a1762e3b69644b61a4f412a1d20d7f56
Autor:
Hiroshi Nakanishi, Pragya Prakash, Taku Ito, H. Jeffrey Kim, Carmen C. Brewer, Danielle Harrow, Isabelle Roux, Seiji Hosokawa, Andrew J. Griffith
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Sensorineural hearing loss can result from dysfunction of the inner ear, auditory nerve, or auditory pathways in the central nervous system. Sensorineural hearing loss can be associated with age, exposure to ototoxic drugs or noise, or mutations in n
Externí odkaz:
https://doaj.org/article/cd1de9a555114b5cbf40476f1957f3a4
Autor:
Saumil Sethna, Wadih M Zein, Sehar Riaz, Arnaud PJ Giese, Julie M Schultz, Todd Duncan, Robert B Hufnagel, Carmen C Brewer, Andrew J Griffith, T Michael Redmond, Saima Riazuddin, Thomas B Friedman, Zubair M Ahmed
Publikováno v:
eLife, Vol 10 (2021)
Usher syndrome type I (USH1) is characterized by deafness, vestibular areflexia, and progressive retinal degeneration. The protein-truncating p.Arg245* founder variant of PCDH15 (USH1F) has an ~2% carrier frequency amongst Ashkenazi Jews accounts for
Externí odkaz:
https://doaj.org/article/b6069badb6b14498bff5ec71588e5683
Autor:
Rabia Faridi, Rizwan Yousaf, Shoujun Gu, Sayaka Inagaki, Amy E. Turriff, Keith Pelstring, Bin Guan, Amelia Naik, Andrew J. Griffith, Samuel Mawuli Adadey, Elvis Twumasi Aboagye, Gordon A. Awandare, Robert J. Morell, Ekaterini Tsilou, Amanda G. Noyes, Laura A. G. Sulmonte, Ambroise Wonkam, Isabelle Schrauwen, Suzanne M. Leal, Hela Azaiez, Carmen C. Brewer, Sheikh Riazuddin, Robert B. Hufnagel, Michael Hoa, Wadih M. Zein, J. Karl de Dios, Thomas B. Friedman
Publikováno v:
Clinical Genetics. 103:699-703
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9fa28c57eb07bd63d0020e5fb71c72c4
https://doi.org/10.1111/cge.14312
https://doi.org/10.1111/cge.14312
Autor:
Emile R. Vieta-Ferrer, Ehsan Ullah, Delphine Blain, Julie A. Christensen, Carmen C. Brewer, James E. Balow, Aman George, Robert B. Hufnagel, Tiziana Cogliati, Brian P. Brooks
Publikováno v:
Ophthalmic Genetics. 44:182-185
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b49f2cb6e24dd2e7b8c9bea116397782
https://doi.org/10.1080/13816810.2022.2089360
https://doi.org/10.1080/13816810.2022.2089360
Publikováno v:
J Acoust Soc Am
Pure-tone thresholds have long served as a gold standard for evaluating hearing sensitivity and documenting hearing changes related to medical treatments, toxic or otherwise hazardous exposures, ear disease, genetic disorders involving the ear, and d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b430a95d8909ca9b8bfa9fe2a36d3b6
https://pubmed.ncbi.nlm.nih.gov/35931504
https://pubmed.ncbi.nlm.nih.gov/35931504
Autor:
Hannah P. Famili, Christopher K. Zalewski, Alaaddin Ibrahimy, Jessica Mack, Fredric Cantor, John D. Heiss, Carmen C. Brewer
Publikováno v:
Journal of Clinical Medicine; Volume 12; Issue 8; Pages: 2767
Chiari Malformation Type I (CM1) is a neurological condition in which the cerebellar tonsils extend past the foramen magnum. While many studies have reported dizziness symptoms in patients with CM1, the prevalence of peripheral labyrinthine lesions i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bcfc6bd289ee548dc628f4ea70b39aa
Autor:
Flavia M. Facio, Bryn D. Webb, Alan Ma, Christopher Troedson, Irini Manoli, Carmen C. Brewer, Christopher K. Zalewski, Elizabeth C. Engle, Carol Van Ryzin, Audrey Thurm, Paul R. Lee, Timothy James Maarup, Malin Kvarnung, Edmond J. FitzGibbon, Hans Ulrik Møller, Camilo Toro, Scott M. Paul, Glad Ragnhild, Jayne Antony, Omar A. Abdul-Rahman, David G. Hunter, Janice S. Lee, Katrine V. Wirgenes, Dorte Ancher Larsen, Mary C. Whitman, Caroline D. Robson, Wai-Man Chan, Kelly A. King, Tanya J. Lehky, Francis S. Collins, Brenda J. Barry, Sarah MacKinnon, Angela Delaney, Emma Tham, Konstantinia Almpani, Ethylin Wang Jabs
Publikováno v:
Whitman, M C, Barry, B J, Robson, C D, Facio, F M, Van Ryzin, C, Chan, W M, Lehky, T J, Thurm, A, Zalewski, C, King, K A, Brewer, C, Almpani, K, Lee, J S, Delaney, A, FitzGibbon, E J, Lee, P R, Toro, C, Paul, S M, Abdul-Rahman, O A, Webb, B D, Jabs, E W, Moller, H U, Larsen, D A, Antony, J H, Troedson, C, Ma, A, Ragnhild, G, Wirgenes, K V, Tham, E, Kvarnung, M, Maarup, T J, MacKinnon, S, Hunter, D G, Collins, F S, Manoli, I & Engle, E C 2021, ' TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy ', Human Genetics, vol. 140, no. 12, pp. 1709-1731 . https://doi.org/10.1007/s00439-021-02379-9
Microtubules are formed from heterodimers of alpha- and beta-tubulin, each of which has multiple isoforms encoded by separate genes. Pathogenic missense variants in multiple different tubulin isoforms cause brain malformations. Missense mutations in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99d00d64dba95ca47cdea707cc3837fb
https://doi.org/10.1007/s00439-021-02379-9
https://doi.org/10.1007/s00439-021-02379-9