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| 1 | SLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct显示文摘Pendred syndrome(PS) is characterized by autosomal recessive inheritance of goiter associated with a defect of iodide organification, hearing loss, enlargement of the vestibular aqueduct(EVA), and mutations of the SLC26A4 gene. However, not all EVA patients have PSor SLC26A4 mutations. Two mutant alleles of SLC26A4 are detected in 1/4 of North American or European EVA populations, one mutant allele is detected in another 1/4 of patient populations, and no mutations are detected in the other 1/2. The presence of two mutant alleles of SLC26A4 is associated with abnormal iodide organification, increased thyroid gland volume, increased severity of hearing loss, and bilateral EVA. The presence of a single mutant allele of SLC26A4 is associated with normal iodide organification, normal thyroid gland volume, less severe hearing loss and either bilateral or unilateral EVA. When other underlying correlations are accounted for, the presence of a cochlear malformation or the size of EVA does not have an effect on hearing thresholds. This is consistent with observations of an Slc26a4 mutant mouse model of EVA in which hearing loss is independent of endolymphatic hydrops or inner ear malformations. Segregation analyses of EVA in families suggest that the patients carrying one mutant allele of SLC26A4 have a second, undetected mutant allele of SLC26A4, and the probability of a sibling having EVA is consistent with its segregation as an autosomal recessive trait. Patients without any mutations are an etiologically heterogeneous group in which siblings have a lower probability of having EVA. SLC26A4 mutation testing can provide prognostic information to guide clinical surveillance and management, as well as the probability of EVA affecting a sibling. | Taku Ito Julie Muskett Parna Chattaraj Byung Yoon Choi Kyu Yup Lee Christopher K Zalewski Kelly A King Xiangming Li Philine Wangemann Thomas Shawker Carmen C Brewer Seth L Alper Andrew J Griffith | 2013 | World Journal of Otorhinolaryngology2013，3，2： | 2 |
| 2 | Cardiac resynchronization therapy for the treatment of heart failure in patients with intraventricular conduction delay and malignant ventricular tachyarrhythmias显示文摘 | Steven L Higgins John D Hummel Imran K Niazi Michael C Giudici Seth J Worley Leslie A Saxon John P Boehmer Michael B Higginbotham Teresa De Marco Elyse Foster Patrick G Yong | 2003 | Journal of the American College of Cardiology2003，，8： | 2 |
| 3 | Grain-Oriented Fabrication of Bismuth Titanate Ceramics and its Electrical Properties显示文摘 | Seth V K Schulze W A | 1989 | IEEE Transactions on Ultrasonics Ferroelecti''ics and Frequency Control1989，36，1： | 1 |
| 4 | Intestinal lipoma: a rare cause of lower gastrointestinal haemorrhage显示文摘 | BASKARAN V PATNAIK P K SETH A K | 2003 | Tropical Gastroenterology2003，24，4： | 1 |
| 5 | Reversal of P-glycoprotein-mediated multidrug resistance by diallyl sulfide in K562 leukemic cells and in mouse liver显示文摘 | Amra A Seth K Shukla Y | 2004 | Carcinogenesis2004，25，6： | 1 |
| 6 | Reversal of P-glycoprotein-mediated multidrug resistance by diallyl sulfide in K562 leukemic ceils and in mouse liver 显示文摘 | Arora A Seth K Shukla Y | 2004 | Carcinogenesis2004，25，6： | 1 |
| 7 | Multivariate granger causality and generalized variance显示文摘 | Barrett A B Barnett L Seth A K | 2010 | Physical Review E2010，81，04： | 1 |
| 8 | Removal of nutrients and Metals by Constructed and Naturally Created Wetlands in the Las Vegas Valley,Nevada显示文摘 | Achyut R Adhikari K A Seth A S Xiaoping Zhou | 2011 | Environ Monit Assess2011，，180： | 1 |
| 9 | A Feature-based Ap-proach to Conflation of Geospatial sources 显示文摘 | Samal A Seth S Cueto K | 2004 | In-ternational Journal of Geographical InformationScience2004，18，5： | 1 |
| 10 | Flexibility in Manufacturing:A Survey显示文摘 | SETHI A K S P SETH | 1990 | International Journal of Flexible Manufacturing Systems1990，2，4： | 1 |
| 11 | Reversal of P-glycoprotein-mediated multidrug resistance by diallyl sulfide in K562 leukemic cells and in mouse liver显示文摘 | Arora A Seth K Shukla Y | 2004 | Carcinogenesis2004，25，6： | 1 |
| 12 | Regulation of metformin response by breast cancer associated gene 2 显示文摘 | Buac D Kona F R Seth A K | 2013 | Neoplasia2013，15，12： | 1 |
| 13 | Wiener-Granger causality: a well established methodology 显示文摘 | BRESSLER SL SETH A K | 2011 | Neuroimage2011，58，2： | 1 |
| 14 | ETS transcription factors and their emerging roles in human cancer显示文摘 | Seth A Watson D K | 2005 | Eur J Cancer2005，41，16： | 1 |
| 15 | The ubiquitin-mediated protein degradation pathway in cancer: the therapeutic implications显示文摘 | Burger A M Seth A K | 2004 | European Journal of Cancer2004，40，： | 1 |
| 16 | A Feature-Based Approach to Conflation of Geospatial Sources显示文摘 | SAMAL A SETH S CUETO K | 2004 | Geographical Information Science2004，18，5： | 1 |
| 17 | Reversal of P-glycoprotein-mediated mul- tidrug resistance by diallyl sulfide in K562 leukemic cells and in mouse liver显示文摘 | Arora A Seth K Shukla Y | 2004 | Carcinogenesis2004，25，6： | 1 |
| 18 | A MATLAB toolbox for Granger causal connec- tivity analysis 显示文摘 | SETH A K | 2010 | J Neurosci Methods2010，186，2： | 1 |
| 19 | Boards of directors and substitution effects of alternative governance meehanisms显示文摘 | Rediker K J Seth A | 1995 | Strategic Management Journal1995，，16： | 1 |
| 20 | Laparoscopic versus open radical nephrectomy for large renal tumors; a long-term prospective comparison显示文摘 | Hemal A K Kumar A Kumar R Wadhwa P Seth A Gupta N P | 2007 | J Urol2007，177，： | 1 |
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