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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 | αvβ3 integrin expression in normal and atherosclerotic artery显示文摘 | HOSHIGA M ALPERS C E SMITH L L | 1995 | Circ Res1995，77，6： | 1 |
| 3 | On the detectability of ocean surface waves by real and synthetic aperture radar显示文摘 | ALPERS W R ROSS D B RUFENACH C L | 1981 | Journal of Geophysical Research1981，86，7： | 1 |
| 4 | Simulation of ocean waves imaging by an along-track interferometric synthetic aperture radar显示文摘 | Bao Mingquan Brruning C Alpers W | 1997 | IEEE Transaction on Geoscience and Remote Sensing1997，15，3： | 1 |
| 5 | Complex expression of nature killer receptor genes in single natural killer cells 显示文摘 | Husain H Alper C A Yunis E J | 2002 | Immunology2002，106，3： | 1 |
| 6 | Focal segmental glomerular sclerosis among patients infected with hepatitis C virus 显示文摘 | Stehman-Breen C Alpers CE Fleet WP | 1999 | Nephron1999，81，1： | 1 |
| 7 | Differential expression of cyclin-dependent kinase inhibitors in human glomerular disease: role in podocyte proliferation and maturation显示文摘 | Shankland S J Eimer F Hudkins K L Goodpaster T D' Agati V Alpers C E | 2000 | Kidney Int2000，58，： | 1 |
| 8 | Near-total thyroidectomy could be the best treatment for thyroid disesase in endemic region显示文摘 | ZekiA MustafaC Alper C | 2004 | Arch Surg2004，139，4： | 1 |
| 9 | The natural incubation period of kuru and the episodes of transmission in three clusters of patients显示文摘 | Klitzman R L Alpers M P Gajdusek D C | 1984 | Neuroepidemiology1984，3，1： | 1 |
| 10 | Tuning genetic control through promoter engineering 显示文摘 | Alper H Fischer C Nevoigt E | 2005 | Proceedings of the National Academy of Sciences of the United States of America2005，102，12： | 1 |
| 11 | Evaluation of an internet support group for women with primary breast cancer显示文摘 | Winzelberg A J Classen C Alpers G W | 2003 | Cancer2003，97，5： | 1 |
| 12 | Negative pH, efflorescent mineralogy, and consequences for environmental restoration at the Iron Mountain Superfund site, California 显示文摘 | Nordstrom D K Alpers C N | 1999 | Proc Natl Acad Sci1999，96，： | 1 |
| 13 | Endoscopic submucosal dissection in gastric lesions: the 100 cases experience from a tertiary reference center in West显示文摘 | Fatih Aslan Emrah Alper Cem Cek&imath c Derya Arslan Yurtlu Nese Ek&imath nc&imath Mahmut Arabul Belkis Unsal Yoshimasa M&imath ura Hironori Yamamoto | 2014 | Scandinavian Journal of Gastroenterology2014，，3： | 1 |
| 14 | Glomerular cells, extracellular matrix accumulation, and the development of glomerulosclerosis in the remnant kidney model 显示文摘 | FLOEGE J ALPERS C BURNS M W | 1992 | Lablnvest1992，66，： | 1 |
| 15 | Validation by magnetic resonance imaging of tympanometry for diagnosing middle ear effusion显示文摘 | ALPER C SABO D DOYLE W | 1999 | Otolaryngol Head Neck Surg1999，121，： | 1 |
| 16 | Magnetic resonance imaging of the female pelvis: initial experience显示文摘 | Hricak H Alpers C Crooks L E | 1983 | AJR Am J Roentgenol1983，141，6： | 1 |
| 17 | The immune response to hepatitis B vaccine in humans: Inheritance patterns in families显示文摘 | Krudkall M S Alper C A Awdeh Z | 1992 | J Exp Med1992，175，2： | 1 |
| 18 | The human immune response to hepatitis B surface antigen 显示文摘 | ALPER C A | 1995 | Exp Clin Immun1995，12，3： | 1 |
| 19 | Stable isotopes of car- bon dioxide in soil gas over massive sulfide mineralization at Crandon,Wisconsin显示文摘 | Alpers C N Dettman D L Lohmann KC | 1990 | Journal of Geochemical Exploration1990，38，2： | 1 |
| 20 | Pathology of human dia- betic nephropathy显示文摘 | Najafian B Alpers C E Fogo A B | 2011 | Contrib Nephrol2011，170，6： | 1 |
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