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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 | Assessment of erosion haz- ard with the USLE and GIS A ease study of the Upper Ewaso Nglro North basin of Kenya显示文摘 | Bancy M Mati Royston P C Morgan Francis N Gichuki John N Quinton Tim R Brewer Hans P l iniger | 2000 | lnternation Journal of Applied Earth Ob- servation and Geoinformation2000，2，2： | 1 |
| 3 | Using the balanced scorecard to measure supply chain performance显示文摘 | BREWER P C SPEH T W | 2000 | Journal of Business Logistics2000，21，1： | 1 |
| 4 | Parental identification of carly behavioral abnormalities in children with autistic disorder显示文摘 | Young RL Brewer N Pattison C | 2003 | Autism2003，7，2： | 1 |
| 5 | Dasymetric mapping and areal interpola tion: Implementation and Evaluation 显示文摘 | Eicher C Brewer C | 2001 | Cartography and Geographic Information Science2001，28，2： | 1 |
| 6 | HPV infection and number of lifetime sexual partners are strong predictors for'natural'regression of CIN2and3显示文摘 | Chan JK Monk BJ Brewer C | 2003 | Br J Cancer2003，89，6： | 1 |
| 7 | BMP signaling is necessary for neural crest cell migration and ganglion formation in the enteric nervous system显示文摘 | Goldstein A M Brewer K C Doyle A M | 2005 | Mech Dev2005，122，6： | 1 |
| 8 | Economic Value Added (EVA) :Its uses and limitations 显示文摘 | Peter C Brewer Cyan Chandra Clayton A Hock | 1999 | SAM Advanced Management Journal1999，64，2： | 1 |
| 9 | The temperature of Europe during the Holoeene reconstructed from pollen data显示文摘 | Davis B A S Brewer S Stevenson A C | 2003 | Quaternary Science Reviews2003，22，1517： | 1 |
| 10 | Renal deposition of cy- tomegalovirus antigen in immunoglobulin-A nephropathy 显示文摘 | Gregory M C Hammond M E Brewer E D | 1988 | Lancet1988，1，85756： | 1 |
| 11 | Definition of metabolic syndrome: Report of the National Heart, Lung, and Blood Institute/American Heart Association con- ference on scientific issues related to definition 显示文摘 | Grundy SM Brewer HB Jr Cleeman JI Smith SC Jr Lenfant C American Heart Association National Heart Lung and Blood In- stitute | 2004 | Circulation2004，109，3： | 1 |
| 12 | Assessment of erosion hazard with the USLE and GIS:a case study of the upper Ewaso Ng'iro North Basin of Kenya显示文摘 | Mati B M Morgan R P C Gichuki F N Quinton J N Brewer T R Liniger H P | | 0，，02： | 1 |
| 13 | Audio- vestibular dysfimction associated with adoptive cell im- munotherapy for melanoma显示文摘 | Seaman B J Guardiani E A Brewer C C | 2012 | Otolaryngology-Head and Neck Surgery2012，147，4： | 1 |
| 14 | Porcine encephalomyocarditis virus persists in pig myocardium and infects human myocardical cells 显示文摘 | Brewer L A Lwamba H C M Murtaugh M P | 2001 | Journal of Virology2001，75，11： | 1 |
| 15 | The 4th international palaeoflood workshop and trends in palaeoflood science 显示文摘 | Woodward J C Tooth S Brewer P A | 2010 | Global and Planetary Change2010，70，1234： | 1 |
| 16 | 查看详情显示文摘 | Chinn C A Brewer W F | | 0，，01： | 1 |
| 17 | Criteria to select biochars for field studies based on biochar chemical properties显示文摘 | Brewer C E Unger R Schmidt R K | 2011 | Bioenergy Research2011，4，4： | 1 |
| 18 | Consumer attitudes toward food safety issues 显示文摘 | BREWER M S PRESTAT C J | 2007 | Journal of Food Safety2007，22，2： | 1 |
| 19 | The adverse effects of obesity on conception and implantation 显示文摘 | Brewer C J Balen AH | 2010 | Reproduction2010，140，3： | 1 |
| 20 | Manufacturing Technology 显示文摘 | Alexander J M Brewer R C Rowe G W | 1999 | Tribology Transactions1999，59，2： | 1 |
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