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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 | Reliability of measuring anomalous experience:the Bonn Scale for the Assessment of Basic Symptoms显示文摘 | Vollmer-Larsen A Handest P Parnas J | 2007 | Psychopathology2007，40，5： | 1 |
| 3 | Schizophrenia, consciousness, and the self 显示文摘 | Sass LA Parnas J | 2003 | Schizophr Bull2003，29，3： | 1 |
| 4 | Schizophrenia, neurodevelopment and corpus callosum显示文摘 | Innocenti GM Ansermet F Parnas J | 2003 | Mol Psychiatry2003，8，3： | 1 |
| 5 | 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 |
| 6 | Anomahes of subjective experience in schizophrenia and psychotic bipolar illness显示文摘 | Parnas J Ytandest P Saebye D | 2003 | Acta Psychiatr Scand2003，108，2： | 1 |
| 7 | Self-experience in the early phases of schizophrenia: 5-year follow-up of the Copenhagen Prodromal Study显示文摘 | Parnas J Raballo A Handest P | 2011 | World Psychiatry2011，10，3： | 1 |
| 8 | Schizophrenia, consciousness, and the self显示文摘 | Sass L A Parnas J | 2003 | Schizophr Bull2003，29，： | 1 |
| 9 | The amplitude and phase precision of 40 Hz auditory steady-state response depend on the level of arousal 显示文摘 | GRISKOVA I MORUP M PARNAS J | 2007 | Exp Brain Res2007，183，： | 1 |
| 10 | Schizophrenia,neurodevelopment and corpus callosum显示文摘 | Innocenti GM Ansermet F Parnas J | 2003 | Mol Psychiatry2003，8，3： | 1 |
| 11 | Evaluation of safetycritical software显示文摘 | Parnas D L van Schouwen A J Kwan S P | 1990 | Communications of ACM1990，6，33： | 1 |
| 12 | Schizophrenia, neurode- velopment and corpus callosum显示文摘 | Innoeenti GM Ansermet F Parnas J | 2003 | Mol-Psychiatry2003，8，3： | 1 |
| 13 | Assessment of safety-critical software in nuclear power plants显示文摘 | Parnas D L Asmis G Madey J | 1991 | Nuclear safety1991，32，2： | 1 |
| 14 | Functional documents for computer systems显示文摘 | Parnas D L Madey J | 1995 | Science of Computer Programming1995，25，1： | 1 |
| 15 | Assessment of safety-critical software in nuclear power plants显示文摘 | Parnas D L Asmis G J K Madey J | 1991 | Nuclear Safety1991，32，2： | 1 |
| 16 | 13ehavioral precursors osehizophrenia spectrum A prospective study显示文摘 | Parnas J Schulslnger F Schulsinger H | 1982 | Archives of Gener Psychiatry1982，39，： | 1 |
| 17 | Permeability characterization,Part Ⅰ:A proposed standard reference fabric for permeability显示文摘 | Parnas R S Howard J G | 1995 | Polymer Composites1995，16，6： | 1 |
| 18 | A comparison of unidirectional and radial in-plane flow of fluids through woven composite reinforcement显示文摘 | Parnas R S Salme A J | 1993 | Polymer Composites1993，14，5： | 1 |
| 19 | Evaluation of safety-critical software显示文摘 | PARNAS D L Van SCHOUWEN A J KWAN S P | 1990 | Communication of ACM1990，33，6： | 1 |
| 20 | Precise documentation of wellstructured programs显示文摘 | Parnas D L Madey J Iglewski M | | 0，，12： | 1 |
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