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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 | Phytoremediation of soil metals显示文摘 | Rufus L Chaney Minnie Malik Yin M Li Sally L Brown Eric P Brewer J Scott Angle Alan JM Baker | 1997 | Current Opinion in Biotechnology1997，，3： | 2 |
| 3 | World population Growth and Related Technical problems显示文摘 | Brewer J W | 1971 | Technological Forecasting and Social change1971，，30： | 1 |
| 4 | Intellectual Human Capital and the Birth of USA显示文摘 | ZUCKER L G DARBY M R BREWER M B | 1998 | Biotechnology Enterprises American Economic Review1998，88，1： | 1 |
| 5 | 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 |
| 6 | Drug interactions that matter显示文摘 | Brewer L Williams D | 2012 | Medicine2012，40，7： | 1 |
| 7 | Intellectual human capital and the birth of US biotechnology enterprises 显示文摘 | ZUCKER L G DARBY M R BREWER M B | 1998 | American Economic Review1998，88，1： | 1 |
| 8 | 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 |
| 9 | Conceptual modeling automated seeding trans- fer from growing trays to shipping modulus 显示文摘 | Brewer H L | 1994 | Transac- tions of ASAE1994，37，4： | 1 |
| 10 | Probabilistic analysis of a SiC/SiC ceramic matrix compsoite turbine vane显示文摘 | Murthy P L N Nemeth N N Brewer D V Mital S | 2008 | Composites Part B: Engi- neering2008，39，4： | 1 |
| 11 | Athletic identity: Hercules'muscles or Achilles heel 显示文摘 | Brewer BW Van Raalte J L Linder DE | 1993 | International Journal of Sport Psychology1993，24，： | 1 |
| 12 | A wild type porcine encephalomyocarditis virus containing a short poly(C) tract is pathogenic to mice, pigs, and cynomolgus macaques显示文摘 | Larue R Myers S Brewer L | 2003 | J Virol2003，77，17： | 1 |
| 13 | “A Five-Stage Process for Establishing Contextually Valid Systematic Observation Instruments:The Case of Rugby Union”显示文摘 | Brewer C J Jones R L | 2002 | The Sport Psychologist2002，16，13： | 1 |
| 14 | Self-presentation and exercise显示文摘 | Hausenblas H A Brewer B W Van Raalte J L | | 0，，16： | 1 |
| 15 | Measuring pork color:effects of blooming time,muscle,pH and relationship to instrumental parameters显示文摘 | Brewer M S Zhu L G Bidner B | 2001 | Meat Science2001，57，： | 1 |
| 16 | Anaerobic oxida- tion of methane : Mechanisms, bioenergeties, and the ecology of associated microorganisms显示文摘 | CaldweU S L Laidler J R Brewer E A | 2008 | Environmental Science & Technol- ogy2008，42，18： | 1 |
| 17 | Intellectual hu- man capital and the birth of US biotechnology enterprises显示文摘 | ZUCKER L G DARBY M R BREWER M B | 1998 | American Economic Review1998，88，1： | 1 |
| 18 | Anaerobic oxidation of methane: mecbx nisms, bioenergetics, and the ecology of associated microorganisms 显示文摘 | Caldwell S L Laidler J R Brewer E A | 2008 | Environmental Science and Technology2008，42，18： | 1 |
| 19 | Computational Social Science显示文摘 | Lazer D Pentland A Adamic L Aral S Barabasi A L Brewer D Christakis N Contractor N Fowler J Gutmann M Jebara T King G Macy M Roy D Van Alstyne M | | 0，，5915： | 1 |
| 20 | Evaluating adrenal activity in African wild dogs (Lycaon pictus) by fecal corticosteroid analysis显示文摘 | MONFORT S L MASHBURN K L BREWER B A | 1998 | Journal of Zoo and Wildlife Medicine1998，29，： | 1 |
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