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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 | Toxic Effects of Cypermethrin on Certain Hematological Aspects of Fresh Water Fish Channa punctatus 显示文摘 | Saxena K K Seth N | 2002 | Bull Environ Contam Toxicol2002，69，： | 1 |
| 4 | Effects of chromium on the immune system显示文摘 | Shrivastava R Upreti R K Seth P K | 2002 | FEMS Immunol Med Microbiol2002，34，1： | 1 |
| 5 | Enhanced survival and function of neural stem cells-derived dopaminergic neurons under influence of olfactory ensheathing cells in parkinsonian rats 显示文摘 | Shukla S Chaturvedi RK Seth K | 2009 | J Neurochem2009，109，2： | 1 |
| 6 | 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 |
| 7 | Hadronic decay of J/psi(l * * 3 S(l)) and psi-prime (2* * 3 S(l)) through virtual photons 显示文摘 | Seth K | 2004 | Phys Rev D2004，69，09： | 1 |
| 8 | Long-term functional restoration by neural progenitor cell transplantation in rat model of cognitive dysfunction: co-transplantation with olfactory ensheathing cells for neurotrophic factor support 显示文摘 | Srivastava N Seth K Khanna VK | 2009 | Int J Dev Neurosci2009，27，1： | 1 |
| 9 | 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 |
| 10 | Coordinate expression of novel genes oduring osteoblast differdntiation显示文摘 | Arun Seth Barbara K Shirley Qi | 2001 | TBMR2001，15，9： | 1 |
| 11 | 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 |
| 12 | Degradation of some phthalic acid esters in soil显示文摘 | Shanker R Ramakrishma C Seth P K | 1985 | Environmental Pollution Series A Ecological and Biological1985，39，1： | 1 |
| 13 | 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 |
| 14 | 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 |
| 15 | 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 |
| 16 | A comprehensive assessment of memo- ry, delay aversion, timing,inhibition, decision making and variability in attention deficit hyperactivity disorder: advancing beyond the three- pathway models显示文摘 | Coghill DR Seth S Matthew K | 2014 | Psychol Med2014，44，9： | 1 |
| 17 | Hepatic effects of phthalate esters显示文摘 | 1982 | 1982 | Environ Health Perspectives1982，45，： | 1 |
| 18 | Effect of diethyl maleate onacrylamide induced neuropathy in rats 显示文摘 | Dixit R Husain R Seth P K | 1980 | Toxicology Letters1980，6，6： | 1 |
| 19 | Beneficial effects of δ-adoncsyl-L0methionine on amino levulinic acid dehydratase,gintathione and lipid per oxidation during acute lead-ethanol administration in mice显示文摘 | Flora G J S Seth P K | 1999 | Alcohol1999，18，： | 1 |
| 20 | Eupyrene and apyrene sperm: Dichotomous spermatogenesis in Lepidoptera显示文摘 | Friedlander M Seth R K Reynolds S E | 2005 | Advances in Insect Physiology2005，32，： | 1 |
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