Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 10 (of 10 Records) |
Query Trace: Mondini Dysplasia[original query] |
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A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. Clinical genetics 2007 Sep 72 (3): 245-54. Wang Q-J, Zhao Y-L, Rao S-Q, Guo Y-F, Yuan H, Zong L, Guan J, Xu B-C, Wang D-Y, Han M-K, Lan L, Zhai S-Q, Shen |
Genotype-phenotype correlations for SLC26A4-related deafness. Human genetics 2007 Dec 122 (5): 451-7. Azaiez Hela, Yang Tao, Prasad Sai, Sorensen Jessica L, Nishimura Carla J, Kimberling William J, Smith Richard J |
Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis. Journal of translational medicine 2008 6 (1): 74. Dai Pu, Yuan Yongyi, Huang Deliang, Zhu Xiuhui, Yu Fei, Kang Dongyang, Yuan Huijun, Wu Bailin, Han Dongyi, Wong Lee-Jun |
Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA). Annals of human genetics 2010 Jul 74 (4): 299-307. Pourová Radka, Janousek Petr, Jurovcík Michal, Dvoráková Marcela, Malíková Marcela, Rasková Dagmar, Bendová Olga, Leonardi Emanuela, Murgia Alessandra, Kabelka Zdenek, Astl Jaromír, Seeman Pav |
Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct. International journal of pediatric otorhinolaryngology 2010 Sep 74 (9): 1049-53. Jonard Laurence, Niasme-Grare Magali, Bonnet Crystel, Feldmann Delphine, Rouillon Isabelle, Loundon Natalie, Calais Catherine, Catros Hélène, David Albert, Dollfus Hélène, Drouin-Garraud Valérie, Duriez Françoise, Eliot Marie Madeleine, Fellmann Florence, Francannet Christine, Gilbert-Dussardier Brigitte, Gohler Catherine, Goizet Cyril, Journel Hubert, Mom Thierry, Thuillier-Obstoy Marie-Françoise, Couderc Remy, Garabédian Eréa Noël, Denoyelle Françoise, Marlin Sandri |
Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. Journal of translational medicine 2011 9 (1): 167. Huang Shasha, Han Dongyi, Yuan Yongyi, Wang Guojian, Kang Dongyang, Zhang Xin, Yan Xiaofei, Meng Xiaoxiao, Dong Min, Dai |
Screening of SLC26A4, FOXI1, KCNJ10, and GJB2 in bilateral deafness patients with inner ear malformation. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2012 Jun 146 (6): 972-8. Chen Kaitian, Wang Xianren, Sun Liang, Jiang Hongy |
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. BMC medical genetics 2013 14 85. Landa Priya, Differ Ann-Marie, Rajput Kaukab, Jenkins Lucy, Bitner-Glindzicz Mar |
[Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders]. Genetika 2017 Jan 53 (1): 88-99. Mironovich O L, Bliznetz E A, Markova T G, Geptner E N, Lalayants M R, Zelikovich E I, Tavartkiladze G A, Polyakov A |
Study on the relationship between the pathogenic mutations of SLC26A4 and CT phenotypes of inner ear in patient with sensorineural hearing loss. Bioscience reports 2019 3 39 (3): . Wu Lihua, Liu Yunliang, Wu Jianman, Chen Sheng, Tang Shupin, Jiang Yi, Dai |
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