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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 | Isoniazid prophylaxis for tuberculosis in HIV infection:a meta analysis of randomized controlled trials显示文摘 | Bucher H C Griffith L Guyatt G | 1999 | AIDS1999，13，： | 1 |
| 3 | Relationships between size, mantle area and zooxanthellae numbers in five species of giant clam Cf'ridacnidae)显示文摘 | Griffiths C L Klumpp D W | 1997 | Oceanographic Literature Review1997，44，2： | 1 |
| 4 | The evolutionary ecology of seed germination of Arabidopsis thaliana : Variable natural selec- tion on germination timing显示文摘 | Donohue K Dora L Griffith C etal | 2005 | Evolution2005，59，4： | 1 |
| 5 | A unified approach to the design of linear constraints in minimum variance adaptive beamformers显示文摘 | Tseng C Y Griffiths L J | 1992 | IEEE Transactions on Antennas and Propagation1992，40，12： | 1 |
| 6 | Heterologous expression and enzymatic properties of a selenium-independent glutathione peroxidase from the parasitic nematode Brugia pahangi显示文摘 | Tang L Gounaris K Griffiths C | 1995 | Journal of Biological Chemistry1995，270，18： | 1 |
| 7 | The twenty-first century landscape of language learning strategies: Introduction to this special issue 显示文摘 | Griffiths C & Oxford R L | 2014 | System2014，，43： | 1 |
| 8 | UDP-glucose dehydrogenase plays multiple roles in the biology of the pathogenic fungus eryptocoecus neoformans显示文摘 | Griffith C L Stacey K J Lijuan Z | 2004 | Biological Chemistry2004，279，： | 1 |
| 9 | An alternative approach to linearly constrained adaptive beamforming 显示文摘 | GRIFFITHS L J JIM C W | 1982 | IEEE Trans on Antennas Propagation1982，30，： | 1 |
| 10 | Rain estimation from geosynchronous satellite im-agery-visible and infrared studies 显示文摘 | Griffith C G Woodley W L Grube P G | 1978 | MonthlyWeather Review1978，106，8： | 1 |
| 11 | Low doses of angiotensin converting enzyme inhibitors and angiotensin type 1 blockers have a synergistic effect but high doses are less than additive显示文摘 | Morgan T Griffiths C Delbridge L | 2002 | Am J Hypertens2002，15，： | 1 |
| 12 | An alternative approach to linearly constrained adaptive beamforming显示文摘 | Griffiths L and Jim C W | 1982 | IEEE Transactions on Antennas and Propagation1982，30，1： | 1 |
| 13 | Rheology of aqueous carbon black dispersions显示文摘 | Barrie C L Griffiths P C Abbott R J | 2004 | Journal of Colloid and Interface Science2004，272，1： | 1 |
| 14 | Fluorinated Acrylates and Polyacrylates:Derivatives and Applications显示文摘 | L KLINGER J R GRIFFITH C J N RALL | 1983 | Org Coat Appl Polym Sci Pro1983，48，： | 1 |
| 15 | Isolation and characterization of an antifreeze protein with ice nucleation activity from the plant growth promoting rhizobacterium Pseudomonas putida GR12-2 显示文摘 | Xu H Griffith M Patten C L Glick B R | 1998 | Canadian Journal of Microbiology1998，44，1： | 1 |
| 16 | PDGFRA mutations in gastrointestinal stromal tumors:frequency, spectrum and in vitro sensitivity to imatinib 显示文摘 | Corless C L Schroeder A Griffith D | 2005 | J Clin Oncol2005，23，23： | 1 |
| 17 | Minocycline therapy for traumatic wound infections caused by the multidrug- resistant Acinetobacter baumannii- Acinetobacter calcoaceticus complex显示文摘 | GRIFFITH M E YUN H C HORVATH L L | 2008 | Infect Dis Clin Pract2008，16，： | 1 |
| 18 | Engineering princi- ples of clinical cell-based tissue engineering 显示文摘 | Muschler G F Nakamoto C Griffith L G | 2004 | J Bone Joint Surg Am2004，86，7： | 1 |
| 19 | Ecological energetic of mussels Choromytilus meridionalis under simulated intertidal rock pool conditions显示文摘 | Clark B C Griffiths C L | 1990 | Journal of Experimental Marine Biology and Ecology1990，137，1： | 1 |
| 20 | The evolutionary ecology of seed germination of Arabidopsis thaliana:variable natural selection on germination timing显示文摘 | Donohue K Dorn L Griffith C | 2005 | Evolution2005，59，4： | 1 |
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