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- Buckley, Patrick G, et al.
(författare)
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A full-coverage, high-resolution human chromosome 22 genomic microarrayfor clinical and research applications
- 2002
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 11:25, s. 3221-3229
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Tidskriftsartikel (refereegranskat)abstract
- We have constructed the first comprehensive microarray representing a human chromosome for analysis of DNA copy number variation. This chromosome 22 array covers 34.7 Mb, representing 1.1% of the genome, with an average resolution of 75 kb. To demonstrate the utility of the array, we have applied it to profile acral melanoma, dermatofibrosarcoma, DiGeorge syndrome and neurofibromatosis 2. We accurately diagnosed homozygous/heterozygous deletions, amplifications/gains, IGLV/IGLC locus instability, and breakpoints of an imbalanced translocation. We further identified the 14-3-3 eta isoform as a candidate tumor suppressor in glioblastoma. Two significant methodological advances in array construction were also developed and validated. These include a strictly sequence defined, repeat-free, and non-redundant strategy for array preparation. This approach allows an increase in array resolution and analysis of any locus; disregarding common repeats, genomic clone availability and sequence redundancy. In addition, we report that the application of phi29 DNA polymerase is advantageous in microarray preparation. A broad spectrum of issues in medical research and diagnostics can be approached using the array. This well annotated and gene-rich autosome contains numerous uncharacterized disease genes. It is therefore crucial to associate these genes to specific 22q-related conditions and this array will be instrumental towards this goal. Furthermore, comprehensive epigenetic profiling of 22q-located genes and high-resolution analysis of replication timing across the entire chromosome can be studied using our array.
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| 2. |
- Borg, E, et al.
(författare)
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Language development in hearing-impaired children - Establishment of a reference material for a 'Language test for hearing-impaired children', LATHIC
- 2002
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Ingår i: International Journal of Pediatric Otorhinolaryngology. - 1872-8464. ; 65:1, s. 15-26
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Tidskriftsartikel (refereegranskat)abstract
- Objective: In Sweden, there has previously been no normalised test material for the evaluation of language development in individual hearing-impaired children, and for the assessment of various methods of auditory habilitation. The purpose of the present study was to compose, apply and evaluate a test for language development in hearing-impaired children, and to establish the first set of reference values related to age, sex, type and degree of hearing impairment. Methods: A test consisting of nine subtests was assembled and developed for, and subsequently applied to, hearing-impaired children in the age range 4-6 years. The inclusion criteria were a pure tone average of 80 dBHL or less and oral language (Swedish) as the first language. Two hundred and eleven hearing-impaired children and 87 normal hearing control children were tested. Results: The results show that: (1) children with hearing impairment-also unilateral-have a delayed language development; (2) the delay is greater in children with larger losses and tends to decrease with increasing age; (3) 6-year-olds with hearing loss greater than 60 dB have not reached the level of the control group; (4) no difference between right- or left sided deafness with respect to language development was observed; (5) a reference material, applicable during clinical assessment, was established for the most common types of hearing impairment. Conclusions: The test designed gave graded measures of important aspects of language development in hearing-impaired children. The results merit further application of the test material. (C) 2002 Elsevier Science Ireland Ltd. All rights reserved.
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| 5. |
- Horneij, E, et al.
(författare)
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Clinical tests on impairment level related to low back pain: A study of test reliability
- 2002
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Ingår i: Journal of Rehabilitation Medicine. - : Medical Journals Sweden AB. - 1651-2081 .- 1650-1977. ; 34:4, s. 176-182
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Tidskriftsartikel (refereegranskat)abstract
- The objectives of the study were, in a working population, to standardize and evaluate a set of clinical tests on impairment level related to the low back with reference to intra- and inter-rater reliability. The study was undertaken in two steps. In step 1, 15 tests were examined for inter-rater reliability by three pairs of physiotherapists and for intra-rater reliability by one physiotherapist. Intra-rater reliability was acceptable (kappa > 0.40) for 14 of the 15 tests. Inter-rater reliability was acceptable for 7 of the 15 tests. In step 2, the tests, indicating a non-acceptable inter-rater reliability (kappa less than or equal to 0.40) were further standardized and re-tested by two of the physiotherapists. This further standardization procedure resulted in an acceptable interrater reliability for all of these tests. Clinical tests of a working population should preferably be performed by the same rater. However, when tests are performed by different raters, it is suggested that test procedures should be regularly standardized, and in pain provocation tests, the magnitude of the applied pressure should be checked regularly and compared with co-raters, in order to improve inter-rater reliability.
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