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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 | Kinetics of melt transesterification of diphenyl carbonate and bisphenol-A to polycarbonate with LiOH · H2O catalyst显示文摘 | Yangsoo K Kyu Y C and Thomas A C | 1992 | Ind Eng Chem Res1992，31，： | 1 |
| 3 | CT findings in benign fibrous mesothelioma of the pleura:pathologic correlation in nine patients显示文摘 | Kyung S L Jnug G L Kyu O C | 1992 | AJR1992，158，5： | 1 |
| 4 | A study on the polymer layer-forming phenomena in a rotating disk polycondensation reactor 显示文摘 | Seong I C Kyu Y C | 1995 | Journal of Applied Polymer Science1995，55，： | 1 |
| 5 | Efficacy and clinical outcome of preimplantation genetic diagnosis using FISH for couples of reciprocal and Robertsonian translocations: the Korean experience显示文摘 | Kyu L C Hyun J J Mi M D | 2004 | Prenat Diagn2004，24，7： | 1 |
| 6 | Two-dimensional electrophoretic analysis of rice proteins by polyethylene glycol fractionation for protein arrays 显示文摘 | Sun T K Kyu S C Yu S J | 2000 | Electrophoresis2000，22，10： | 1 |
| 7 | Synthesis and characterization of nickel(II) complexes of hexaaza macro- tetracyclic ligand containing organic ligands 显示文摘 | KI Y C KANG M C KYU C L | 2002 | Polyhed- ron2002，21，19： | 1 |
| 8 | Copper gate hydrogenated amorphous silicon TFT with thin buffer layers 显示文摘 | Sang W L Kyu S C | 2002 | Electron Device Lett IEEE2002，，6： | 1 |
| 9 | Isolation and characterization of endocellulase-free multienzyme complex from newly isolated Thermoanaerobacterium thermosaccha-rolytiumstrain NO玉-1显示文摘 | Suphavadee C Tachaapaikoon C Pason P Kyu K.L Kosugi A Mori Y and Ratanakhanokchai K | | 0，，03： | 1 |
| 10 | A Korean experience with chronic actinic dermatitis during an 18- year period: meteorological and photoimmunological aspects 显示文摘 | Kyu- Won C Chae- Young L Yeong- Kyu L | 2009 | Photodermatol Photoimmunol Photomed2009，25，6： | 1 |
| 11 | Almost Periodic Solutions of Nonlinear Discrete Volterra Equations with Unbounded Delay 显示文摘 | Sung Kyu C Namjip K | 2008 | Ad- vances in Difference Equations2008，，： | 1 |
| 12 | Two-dimensional electrophoresis analysis of rice proteins by polyethylene glycol {ractiona- tion for protein arrays显示文摘 | Sun T K Kyu S C Yu S J | 2001 | Electrophoresis2001，22，： | 1 |
| 13 | Preliminary stages leading to bubble growth显示文摘 | Cano C I Kyu T Pipes R R Modeling particle inflation from poly(amic acid) powdered precursors I | 2007 | Polym Eng Sci2007，47，5： | 1 |
| 14 | Morphologuical development during bubble growth显示文摘 | Cano C I Kyu T Pipes R B Modeling particle inflation from poly(amic acid) powdered precursors Ⅱ | 2007 | Polym Eng Science2007，47，5： | 1 |
| 15 | Flavonoids from the aerial parts of Lonicera japonica 显示文摘 | Kun H S Jung O P Kyu C C | 1992 | Arch Pharm Res1992，15，4： | 1 |
| 16 | Spinodals in a polymer dispersed liquid crystal显示文摘 | SHEN C KYU T | 1995 | J Chem Phys1995，102，： | 1 |
| 17 | Multiple-target laser rangefinding receiver using a silicon photomu ltiplier array 显示文摘 | Kyu Tak Son Chin C Lee | 2010 | IEEE Transactions on Instrumentation and Measurement2010，59，11： | 1 |
| 18 | Negative association between metabolic syndrome and bone mineral density in Koreans, especially in men显示文摘 | Ha Young K Jae Won C Kyu K I-I | 2010 | Calcified Tissue International2010，86，5： | 1 |
| 19 | CT findings in benign fibrous mesothelioma of the pleura:pathologic correlation in nine pa- tients显示文摘 | Kyung S L Jnug G L Kyu O C | 1992 | AJR1992，158，5： | 1 |
| 20 | Effects of purified persimmon tannin and tannic acid on survival and reproduc tion of bean bug显示文摘 | Chung G P Kyu C L Lee D W | 2004 | Journal of Chemical Ecology2004，，1： | 1 |
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