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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 | Tongue movement during speech and swallowing: a real-time ultrasound evaluation显示文摘 | Shawker TH Sonies BC | 1984 | J Clin Ultrasound1984，12，3： | 1 |
| 3 | Use of intraoperative ultrasonography to localize islet cell tumors显示文摘 | Zeiger MA Shawker TH Norton JA | 1993 | World J Surg1993，17，4： | 1 |
| 4 | Real-time ultrasound visualization of tongue movement during swallowing显示文摘 | Shawker TH Sorties B Stone M | 1983 | J Clin Ultrasound1983，11，9： | 1 |
| 5 | Localization and surgical treatment of occult insulinomas显示文摘 | Norton JA Shawker TH Doppman JL | 1990 | Ann Surg1990，212，5： | 1 |
| 6 | G-CSF induced sleen size changes in peripheral blood progenitor cell donors显示文摘 | Stronced D Shawker T Folomann D | 2003 | Transfusion2003，43，： | 1 |
| 7 | Real time ultrasound visulization of tongue movement during swallowing显示文摘 | Shawker T Sonies B Stone M | 1983 | J Clin Ultrasound1983，11，： | 1 |
| 8 | Pathophysiology of syringomyelia associated with chiari I malformation of the cerebellar tonsils显示文摘 | Oldfield E H Muraszko R Shawker T H | 1994 | J Neurosurg1994，80，1： | 1 |
| 9 | Ultrasound analysis of tongue, hyoid, and larynx activity during swallowing显示文摘 | Shawker TH Sorties B Hall TE | 1984 | Invest Radiol1984，19，2： | 1 |
| 10 | Pathophysiology of syringomyelia associated with Chiari Ⅰ malformation of the cerebellar tonsils: Implication for diagnosis and treatment 显示文摘 | Oldfield EH Muraszk K Shawker TH | 1994 | J Neurosurg1994，80，： | 1 |
| 11 | Posterior tongue grooving in deglutition and speech: preliminary observations显示文摘 | Hamlet SL Stone M Shawker TH | 1988 | Dysphagia1988，3，2： | 1 |
| 12 | Pathophysiology of syringomyelia associated with Chiari I malformation of the cerebellar tonsils:Implications for diagnosis and treatment显示文摘 | Oldfield EH Muraszko K Shawker TH | 1994 | J Neurosurg1994，80，： | 1 |
| 13 | Localization and surgical treatment of occult insulinomas显示文摘 | Norton J Shawker T Doppman J | 1990 | Ann Surg1990，212，5： | 1 |
| 14 | Bactermia associated with angiography显示文摘 | Shawker TH Kluge RM Ayella RJ | 1974 | JAMA1974，229，8： | 1 |
| 15 | Pathophysiology of syringomelia associated with Chiari I malformation of the cerebellar tonsils:implication for diagnosis and treatment 显示文摘 | Oldfield EH Muraszko K Shawker TH | 1994 | Neurosurgery1994，80，1： | 1 |
| 16 | Pathophysiology of syringomyelia associated with Chiari Ⅰ malformation of the cerebellar tonsils显示文摘 | Oldfield EH Muraszko K Shawker TH | 1994 | J Nenrosurg1994，80，1： | 1 |
| 17 | Patho-physioigy of syringomyelia association with Chiari I mal-formation of the ccrebcllar tonsil Implications for diagno-sivs and treatment 显示文摘 | Oldfield KH Mumszko K Shawker TH | 1994 | Neurosurgery1994，880，： | 1 |
| 18 | Pathophysiology of syringom yelia associated with Chiari I malformation of the cerebellartonsils显示文摘 | Oldfield EH Muraszko K Shawker TH | 1994 | J Neurosurg1994，80，1： | 1 |
| 19 | Localization and Surgical Treatment of Occult Insulinomas显示文摘 | JEFFREY A. NORTON THOMAS H. SHAWKER JOHN L. DOPPMAN DONALD L. MILLER DOUGLAS L. FRAKER DOUGLAS T. CROMACK PHILLIP GORDEN ROBERT T. JENSEN | 1990 | Annals of Surgery1990，，5： | 1 |
| 20 | Ultrasound guidance improves the success rate of intemal jugular cannulation:a prospective,randomized trial显示文摘 | Mallory DL McGee Wr Shawker TH | | 0，，01： | 1 |
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