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| 3. |
- Anniko, Matti, et al.
(författare)
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Örat
- 2001. - 2
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Ingår i: Öron, näs- och halssjukdomar, huvud- och halskirurgi. - Stockholm : Liber. - 9147048956 ; , s. 9-103
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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| 4. |
- Astuto, L. M., et al.
(författare)
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CDH23 mutation and phenotype heterogeneity : a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness
- 2002
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 71:2, s. 262-275
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Tidskriftsartikel (refereegranskat)abstract
- Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia. Usher syndrome type ID, one of seven Usher syndrome type I genetic localizations, have been mapped to a chromosomal interval that overlaps with a nonsyndromic-deafness localization, DFNB12. Mutations in CDH23, a gene that encodes a putative cell-adhesion protein with multiple cadherin-like domains, are responsible for both Usher syndrome and DFNB12 nonsyndromic deafness. Specific CDH23 mutational defects have been identified that differentiate these two phenotypes. Only missense mutations of CDH23 have been observed in families with nonsyndromic deafness, whereas nonsense, frameshift, splice-site, and missense mutations have been identified in families with Usher syndrome. In the present study, a panel of 69 probands with Usher syndrome and 38 probands with recessive nonsyndromic deafness were screened for the presence of mutations in the entire coding region of CDH23, by heteroduplex, single-strand conformation polymorphism, and direct sequence analyses. A total of 36 different CDH23 mutations were detected in 45 families; 33 of these mutations were novel, including 18 missense, 3 nonsense, 5 splicing defects, 5 microdeletions, and 2 insertions. A total of seven mutations were common to more than one family. Numerous exonic and intronic polymorphisms also were detected. Results of ophthalmologic examinations of the patients with nonsyndromic deafness have found asymptomatic RP-like manifestations, indicating that missense mutations may have a subtle effect in the retina. Furthermore, patients with mutations in CDH23 display a wide range of hearing loss and RP phenotypes, differing in severity, age at onset, type, and the presence or absence of vestibular areflexia.
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| 5. |
- Astuto, Lisa M., et al.
(författare)
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Genetic heterogeneity of Usher syndrome : analysis of 151 families with Usher type 1
- 2000
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 67:6, s. 1569-1574
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Tidskriftsartikel (refereegranskat)abstract
- Usher syndrome type I is an autosomal recessive disorder marked by hearing loss, vestibular areflexia, and retinitis pigmentosa. Six Usher I genetic subtypes at loci USH1A-USH1F have been reported. The MYO7A gene is responsible for USH1B, the most common subtype. In our analysis, 151 families with Usher I were screened by linkage and mutation analysis. MYO7A mutations were identified in 64 families with Usher I. Of the remaining 87 families, who were negative for MYO7A mutations, 54 were informative for linkage analysis and were screened with the remaining USH1 loci markers. Results of linkage and heterogeneity analyses showed no evidence of Usher types Ia or Ie. However, one maximum LOD score was observed lying within the USH1D region. Two lesser peak LOD scores were observed outside and between the putative regions for USH1D and USH1F, on chromosome 10. A HOMOG chi(2)((1)) plot shows evidence of heterogeneity across the USH1D, USH1F, and intervening regions. These results provide conclusive evidence that the second-most-common subtype of Usher I is due to genes on chromosome 10, and they confirm the existence of one Usher I gene in the previously defined USH1D region, as well as providing evidence for a second, and possibly a third, gene in the 10p/q region.
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| 6. |
- Bagger-Sjöbäck, Dan, et al.
(författare)
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Örat
- 2006. - 3
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Ingår i: Öron, näs- och halssjukdomar, huvud- och halskirurgi. - Stockholm : Liber. - 9147053100 ; , s. 9-97
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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| 7. |
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| 8. |
- Bjerlemo, Berit, et al.
(författare)
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Recovery after early vestibular rehabilitation in patients with acute unilateral vestibular loss
- 2006
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Ingår i: Audiological Medicine. - : Informa UK Limited. - 1651-386X .- 1651-3835. ; 4:3, s. 117-123
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Tidskriftsartikel (refereegranskat)abstract
- The aims of this study were to follow the recovery process, and explore the disease impact on sick leave in patients with acute unilateral vestibular loss (AUVL). Another aim was to investigate whether initial signs of nystagmus, caloric response, and subjective symptoms of vertigo could predict the return to work. Recovery was followed through the reduction in spontaneous and head-shaking nystagmus, evaluated by Video-Frenzel examination, and by caloric response/asymmetry and spontaneous nystagmus, evaluated by bithermal binaural caloric testing. Information regarding employment, sick leave and subjective symptoms of vertigo was collected using a questionnaire. Twenty-seven patients with AUVL participated in a physiotherapy training programme, starting within 48 h of disease onset. Four assessments were performed: at disease onset, in the acute stage, and after one and six months. In most patients a very rapid cessation of spontaneous nystagmus could be observed (14/27 at a median time of two days after disease onset, a further 10 patients after one month and the remaining three patients after six months). A more prolonged persistence of head shaking nystagmus was observed (24/27, 14/27 and 5/21 of the patients showed head-shaking nystagmus at the three assessments). Caloric asymmetry was normalized after six months in 11/27 patients. A positive and significant correlation was observed between long-lasting sick leave and caloric asymmetry, sense of unsteadiness when standing and walking and older age. Unsteadiness when standing and walking, as well as existence of spontaneous nystagmus, were also positively and significantly correlated with the degree of caloric asymmetry. Spontaneous or head-shaking nystagmus, caloric asymmetry and subjective vertigo at disease onset did not, however, predict sick leave after one or six months. Recovery was excellent in most of the patients.
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| 9. |
- Bruder, CEG, et al.
(författare)
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High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH
- 2001
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Ingår i: Human Molecular Genetics. - Oxford, United Kingdom : Oxford University Press. - 0964-6906 .- 1460-2083. ; 1, s. 271-
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Tidskriftsartikel (refereegranskat)abstract
- Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder whose hallmark is bilateral vestibular schwannoma. It displays a pronounced clinical heterogeneity with mild to severe forms. The NF2 tumor suppressor (merlin/schwannomin) has been cloned and extensively analyzed for mutations in patients with different clinical variants of the disease. Correlation between the type of the NF2 gene mutation and the patient phenotype has been suggested to exist. However, several independent studies have shown that a fraction of NF2 patients with various phenotypes have constitutional deletions that partly or entirely remove one copy of the NF2 gene. The purpose of this study was to examine a 7 Mb interval in the vicinity of the NF2 gene in a large series of NF2 patients in order to determine the frequency and extent of deletions. A total of 116 NF2 patients were analyzed using high-resolution array-comparative genomic hybridization (CGH) on an array covering at least 90% of this region of 22q around the NF2 locus. Deletions, which remove one copy of the entire gene or are predicted to truncate the schwannomin protein, were detected in 8 severe, 10 moderate and 6 mild patients. This result does not support the correlation between the type of mutation affecting the NF2 gene and the disease phenotype. This work also demonstrates the general usefulness of the array-CON methodology for rapid and comprehensive detection of small (down to 40 kb) heterozygous and/or homozygous deletions occurring in constitutional or tumor-derived DNA.
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