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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 | Thermal and hemodynamicresponse to whole-body cryostimulation in healthy subjects显示文摘 | Zalewski P Klawe JJ Pawlak J | 2013 | Cryobiology2013，66，3： | 1 |
| 3 | Role of lipoprotein-associated phospholipase A2 in atherosclerosis and its potential as a therapeutic target 显示文摘 | Macphee CH Nelson J Zalewski R | 2006 | Current Opinion in Pharmacology2006，6，2： | 1 |
| 4 | Role of lipoprotein-associated phospholipase A2 in atherosclerosis and its potential as a therapeutic target显示文摘 | Macphee CH Nelson J Zalewski A | 2006 | Curr Opin Pharmacol2006，6，2： | 1 |
| 5 | Spectral resPonse self-calibration and interpolation of silicon photodiodes 显示文摘 | Geist J Zalewski E F Schaefer A R | 1980 | Applied Optics1980，19，22： | 1 |
| 6 | Apoptotic effect of cyanobacterial extract on rat hepatocytes and human lymphocytes显示文摘 | Mankiewicz J Tarczynska M Fladmark KE Doskeland SO Walter Z Zalewski M | 2001 | Environ Toxicol2001，16，3： | 1 |
| 7 | Characterization of catalytically active sulfated zirconia 显示文摘 | ZALEWSKI D J ALERASOOL S DOOLIN P K | 1999 | Catalysis Today1999，53，3： | 1 |
| 8 | Notes on ecotone attributes and functions显示文摘 | KOLASA J ZALEWSKI M | 1995 | Hydrobiologia1995，303，13： | 1 |
| 9 | Role of lipoprotein-associated phospholipase A2 in atherosclerosis and its potential as a therapeutic target显示文摘 | Macphee CH Nelson J Zalewski A | 2006 | Curr Opin Pharmacol2006，6，2： | 1 |
| 10 | Administration of the cervical torsion test by the examination of doppler's blood flows in vertebral arteries and basilar artery in patients with degenerative cervical spine changes显示文摘 | Olszewski J Zalewski P Machala W | 1994 | Otolaryngol Pol1994，48，6： | 1 |
| 11 | Genotoxicity of cyanobacterial extracts containing microcystins from Polish water reservoirs as determined by SOS chromotest and comet assay显示文摘 | Mankiewicz J Walter Z Tarczynska M Palyvoda O Wojtysiak-Staniaszczyk M Zalewski M | 2002 | Environ Toxicol2002，17，4： | 1 |
| 12 | Revised FIGO staging systems for gynecologic malignancies-2009 update 显示文摘 | Zalewski K Doniee J Baranowski W | 2010 | GinekolPol2010，81，10： | 1 |
| 13 | Number of microparticles generated during acute myocardial infarction and stable angina correlates with platelet activation 显示文摘 | St:pie: E Stankiewicz E Zalewski J | 2012 | Arch Med Res2012，43，1： | 1 |
| 14 | Role of lipoprotein-associated phospholipase A2 in atherosclerosis and its potential as a therapeutic target显示文摘 | Macphee CH Nelson J Zalewski A | 2006 | Curr Opin Pharmacol2006，6，2： | 1 |
| 15 | The endogenous cardioprotectionduring reperfusion in acute myocardial infarction显示文摘 | Zalewski J Nessler J | 2011 | KardiolPol2011，69，3： | 1 |
| 16 | Expression of extracellular matrix components is disrupted in the immature and adult es- trogen receptor ~ -null mouse ovary显示文摘 | Zalewski A Cecchini E L Deroo B J | 2012 | PLOS One2012，7，29： | 1 |
| 17 | Fuzzy regression approach to peak load estimation in power distribution systems显示文摘 | Nazarko J Zalewski W | 1999 | IEEE Transactions on Power Systems1999，14，3： | 1 |
| 18 | Tinnitus suppression by electrical promontory stimulation (EPS) in patients with sensorineural hear- ing loss显示文摘 | KONOPKA W ZALEWSKI P OLSZEWSKI J | 2001 | Auris Nasus Larynx2001，28，： | 1 |
| 19 | Elevated levels of 8-iso-prostaglandin F2alpha in acute coronary syndromes are associated with systemic and local platelet activation显示文摘 | Szutdrzyhski K Zalewski J Machnik A | 2010 | Pol Arch Med Wewn2010，120，12： | 1 |
| 20 | Number of microparticles generated during acute myocardial infarction and stable angina correlates with platelet activation显示文摘 | Stepien E Stankiewicz E Zalewski J | 2012 | Arch Med Res2012，43，1： | 1 |
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