|
|
|
题名
|
作者
|
年代
|
出处
|
被引量
|
| 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 | Designing new materials form wheat protein 显示文摘 | Dara L Woerdemann Wim S Veraverbeke Richard S Parnas | 2004 | Biomacromolecules2004，5，： | 1 |
| 3 | Information distribution aspects of design methodology 显示文摘 | Parnas D L | 1972 | Information Processing1972，，71： | 1 |
| 4 | On Satisfying Time Constraints in Hard-Real-Time Systems显示文摘 | J Xu D L Parnas | 1993 | IEEE Trans Software Eng1993，19，1： | 1 |
| 5 | Requirements-Based Monitors for Real-Time Systems显示文摘 | D K Peters D L Parnas | 2002 | IEEE Trans Software Eng2002，28，2： | 1 |
| 6 | Software aspects of stratigic defense systems显示文摘 | | 1985 | Communications of the ACM1985，28，12： | 1 |
| 7 | A natural tooth's stress distribution in occlusion with a dental implant 显示文摘 | Akpinar L Aml N Parnas L | 2000 | J Oral Rehabil2000，27，6： | 1 |
| 8 | On the Critiria to Be Used in Decomposing Systems Into Modules,Communications of the ACM显示文摘 | Parnas D L | 1972 | 15(12):1053-10581972，15，12： | 1 |
| 9 | Investigation of the thermal, mechanical, and fracture properties of alumina- epoxy composites显示文摘 | McGrath L M Parnas R S King S H | 2008 | Polymer2008，49，： | 1 |
| 10 | Schizophrenia, consciousness, and the self显示文摘 | Sass L A Parnas J | 2003 | Schizophr Bull2003，29，： | 1 |
| 11 | Designing new materials from wheat protein显示文摘 | Dara L Woerdeman Wim S Veraverbeke Richard S Parnas | 2004 | Biomacromolecules2004，5，： | 1 |
| 12 | Designing new materials form wheat protein 显示文摘 | Dara L Woerdemann Wim S Veraverbeke Richard S Parnas | 2004 | Biomacromolecules2004，5，： | 1 |
| 13 | On the criteria to be used in decomposing systems into modules显示文摘 | PARNAS D L | | 0，，12： | 1 |
| 14 | A comparison of stress and strain distribution characteristics of two different rigid implant designs for distal-extension fixed prostheses显示文摘 | Demitel F Parnas L | 1996 | Quintessence Int1996，27，1： | 1 |
| 15 | Design of fiber - reinforced composite pressure vessels under various loading conditions 显示文摘 | L Parnas N Katirei | 2002 | Composite Structures2002，58，： | 1 |
| 16 | The modular structure of complex systems显示文摘 | Parnas D L Clements P C Weiss D M | 1985 | IEEE Transactions on Software Engineering1985，11，3： | 1 |
| 17 | On the criteria to be used in decomposing systems into modules显示文摘 | | 1972 | Communications of the ACM1972，15，12： | 1 |
| 18 | On the criteria to be used in decomposing systems into modules显示文摘 | Parnas D L | 1972 | Communications of the ACM1972，15，12： | 1 |
| 19 | Designing New Materials from Wheat Protein显示文摘 | Woerdeman D L Veraverbeke W S Parnas R S | 2004 | Biomacromolecules2004，5，： | 1 |
| 20 | On The Criteria For Decomposing Systems Into Modules显示文摘 | Parnas L | 1972 | Communications Of The ACM1972，15，12： | 1 |
您所在的机构暂未开通此部分的功能，请联系管理员