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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 | World population Growth and Related Technical problems显示文摘 | Brewer J W | 1971 | Technological Forecasting and Social change1971，，30： | 1 |
| 3 | Enhancement effects on quality characteristics of pork derived from pigs of various commercial genetic backgrounds显示文摘 | Brewer M S Sosnicki A Field B | 2004 | Journal of Food Science2004，69，1： | 1 |
| 4 | 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 |
| 5 | Guidelines for the management of hemophilia显示文摘 | Srivastava A Brewer AK Mauser-Bunschoten EP | 2013 | Haemophilia2013，19，1： | 1 |
| 6 | 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 |
| 7 | 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 |
| 8 | Evidence for a world circulation provided by measurements of helium and water vapour distribution in the stratosphere 显示文摘 | Brewer A W | 1949 | The Quarterly Journal of the Royal Meteorological Society1949，75，326： | 1 |
| 9 | Advances in color matching显示文摘 | Brewer JD Wee A Seghi R | 2004 | Dent Clin North Am2004，48，2： | 1 |
| 10 | Titanium Alloys and Processing for High Speed Aircraft显示文摘 | Brewer D Bird R K Wallace T A | 1998 | Materials Science and Engineering1998，243，： | 1 |
| 11 | 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 |
| 12 | Guide- lines for the management of hemophilia显示文摘 | Srivastava A Brewer AK Manser-Bunschoten EP | 2013 | Haemophilia2013，19，1： | 1 |
| 13 | 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 |
| 14 | 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 |
| 15 | 查看详情显示文摘 | Chinn C A Brewer W F | | 0，，01： | 1 |
| 16 | Supercritical water oxidation:concept analysis for evolutionary space station application显示文摘 | HALL J B BREWER D A | 1986 | SAE Technical Paper Series1986，，5： | 1 |
| 17 | Cocaine abuse:dermatologic manifestations and therapeutic approaches显示文摘 | Brewer JD Meves A Bostwick JM | | 0，，03： | 1 |
| 18 | The Oxford - Kew ozone sond 显示文摘 | BREWER A W MILFORDilford J R | 1960 | The Royal Society1960，，256： | 1 |
| 19 | The antibacterial activity of some naturally occurring 2,5-dihydroxy-1, 4-benzoquinones显示文摘 | Brewer D Jen W C Jones G A | 1984 | Canadian Journal of Microbiology1984，30，8： | 1 |
| 20 | Molecular and cellular aspects of auxin-transport-mediated development显示文摘 | Vieten A Sauer M Brewer P B Friml J | 2007 | Trends in Plant Science2007，12，4： | 1 |
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