Hereditary hearing loss with thyroid abnormalities.

作者: Byung Yoon Choi , Julie Muskett , Kelly A. King , Christopher K. Zalewski , Thomas Shawker

DOI: 10.1159/000322469

关键词:

摘要: Mutations in SLC26A4 can cause deafness and goiter Pendred syndrome (PDS) or isolated non-syndromic enlargement of the vestibular aqueduct (NSEVA). PDS is one most common

参考文章(63)
S Naganawa, A Furuhashi, T Nakashima, E Sato, K Asahi, R Beppu, H Ueda, Air-bone gap and resonant frequency in large vestibular aqueduct syndrome. American Journal of Otology. ,vol. 21, pp. 671- 674 ,(2000)
Daryl A. Scott, Rong Wang, Trisha M Kreman, Val C. Sheffield, Lawrence P Karniski, The Pendred syndrome gene encodes a chloride-iodide transport protein. Nature Genetics. ,vol. 21, pp. 440- 443 ,(1999) , 10.1038/7783
Sairam V Jabba, Alisha Oelke, Ruchira Singh, Rajanikanth J Maganti, Sherry Fleming, Susan M Wall, Lorraine A Everett, Eric D Green, Philine Wangemann, Macrophage invasion contributes to degeneration of stria vascularis in Pendred syndrome mouse model BMC Medicine. ,vol. 4, pp. 37- 37 ,(2006) , 10.1186/1741-7015-4-37
Robert K. Jackler, Antonio De La Cruz, The large vestibular aqueduct syndrome Laryngoscope. ,vol. 99, pp. 1238- 1243 ,(1989) , 10.1288/00005537-198912000-00006
M.E. Morgans, W.R. Trotter, ASSOCIATION OF CONGENITAL DEAFNESS WITH GOITRE THE NATURE OF THE THYROID DEFECT The Lancet. ,vol. 271, pp. 607- 609 ,(1958) , 10.1016/S0140-6736(58)90866-3
Shannon P. Pryor, Gail J. Demmler, Anne C. Madeo, Yandan Yang, Chris K. Zalewski, Carmen C. Brewer, John A. Butman, Karen B. Fowler, Andrew J. Griffith, Investigation of the Role of Congenital Cytomegalovirus Infection in the Etiology of Enlarged Vestibular Aqueducts Archives of Otolaryngology-head & Neck Surgery. ,vol. 131, pp. 388- 392 ,(2005) , 10.1001/ARCHOTOL.131.5.388
S. Usami, Satoko Abe, Mike D. Weston, Hideichi Shinkawa, Guy Van Camp, William J. Kimberling, Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations Human Genetics. ,vol. 104, pp. 188- 192 ,(1999) , 10.1007/S004390050933
Colm Madden, Mark Halsted, Jareen Meinzen-Derr, Dianna Bardo, Mark Boston, Ellis Arjmand, Carla Nishimura, Tao Yang, Corning Benton, Vijay Das, Richard Smith, Daniel Choo, John Greinwald, The Influence of Mutations in the SLC26A4 Gene on the Temporal Bone in a Population With Enlarged Vestibular Aqueduct Archives of Otolaryngology-head & Neck Surgery. ,vol. 133, pp. 162- 168 ,(2007) , 10.1001/ARCHOTOL.133.2.162
Sébastien Albert, Hélène Blons, Laurence Jonard, Delphine Feldmann, Pierre Chauvin, Nathalie Loundon, Annie Sergent-Allaoui, Muriel Houang, Alain Joannard, Sébastien Schmerber, Bruno Delobel, Jacques Leman, Hubert Journel, Hélène Catros, Hélène Dollfus, Marie-Madeleine Eliot, Albert David, Catherine Calais, Valérie Drouin-Garraud, Marie-Françoise Obstoy, Patrice Tran Ba Huy, Didier Lacombe, Françoise Duriez, Christine Francannet, Pierre Bitoun, Christine Petit, Eréa-Noël Garabédian, Rémy Couderc, Sandrine Marlin, Françoise Denoyelle, SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations European Journal of Human Genetics. ,vol. 14, pp. 773- 779 ,(2006) , 10.1038/SJ.EJHG.5201611
C Stinckens, P.L.M Huygen, F.B.M Joosten, G Van Camp, B Otten, C.W.R.J Cremers, Fluctuant, progressive hearing loss associated with Menière like vertigo in three patients with the Pendred syndrome International Journal of Pediatric Otorhinolaryngology. ,vol. 61, pp. 207- 215 ,(2001) , 10.1016/S0165-5876(01)00573-0