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Träfflista för sökning "LAR1:oru srt2:(2000-2004);pers:(Möller Claes 1950)"

Sökning: LAR1:oru > (2000-2004) > Möller Claes 1950

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21.
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22.
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23.
  • Möller, Claes, 1950- (författare)
  • Vestibular terms
  • 2001
  • Ingår i: Definitions, protocols and guidelines in genetic hearing impairment. - London : Whurr Publishers. - 1861561881 ; , s. 15-16
  • Bokkapitel (övrigt vetenskapligt/konstnärligt)
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24.
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25.
  • Pieke-Dahl, S., et al. (författare)
  • Genetic heterogeneity of Usher syndrome type II : localisation to chromosome 5q
  • 2000
  • Ingår i: Journal of Medical Genetics. - : BMJ. - 0022-2593 .- 1468-6244. ; 37:4, s. 256-262
  • Tidskriftsartikel (refereegranskat)abstract
    • Usher syndrome is a group of autosomal recessive disorders that includes retinitis pigmentosa (RP) with hearing loss. Usher syndrome type II is defined as moderate to severe hearing loss with RP. TheUSH2A gene at 1q41 has been isolated and characterised. In 1993, a large Usher II family affected with a mild form of RP was found to be unlinked to 1q41 markers. Subsequent linkage studies of families in our Usher series identified several type II families unlinked to USH2A andUSH3 on 3q25. After a second unlinked family with many affected members and a mild retinal phenotype was discovered, a genome search using these two large families showed another Usher II locus on 5q (two point lod = 3.1 at D5S484). To date, we have identified nine unrelated 5q linked families (maximum combined multipoint lod = 5.86) as well as three Usher II families that show no significant linkage to any known Usher loci. Haplotype analysis of 5q markers indicates that the new locus is flanked by D5S428 and D5S433. Review of ophthalmological data suggests that RP symptoms are milder in 5q linked families; the RP is often not diagnosed until patients near their third decade. Enamel hypoplasia and severe, very early onset RP were observed in two of the three unlinked families; dental anomalies have not been previously described as a feature of Usher type II.
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26.
  • Sadeghi, Mehdi, et al. (författare)
  • Audiological findings in Usher syndrome types IIa and II (non-IIa).
  • 2004
  • Ingår i: International journal of audiology. - London : Taylor & Francis. - 1499-2027 .- 1708-8186. ; 43:3, s. 136-43
  • Tidskriftsartikel (refereegranskat)abstract
    • The aim was to define the natural history of hearing loss in Usher syndrome type IIa compared to non-IIa. People with Usher syndrome type II show moderate-to-severe hearing loss, normal balance and retinitis pigmentosa. Several genes cause Usher syndrome type II. Our subjects formed two genetic groups: (1) subjects with Usher syndrome type IIa with a mutation and/or linkage to the Usher IIa gene; (2) subjects with the Usher II phenotype with no mutation and/or linkage to the Usher IIa gene. Four hundred and two audiograms of 80 Usher IIa subjects were compared with 435 audiograms of 87 non-IIa subjects. Serial audiograms with intervals of > or = 5 years were examined for progression in 109 individuals Those with Usher syndrome type IIa had significantly worse hearing thresholds than those with non-IIa Usher syndrome after the second decade. The hearing loss in Usher syndrome type IIa was found to be more progressive, and the progression started earlier than in non-IIa Usher syndrome. This suggests an auditory phenotype for Usher syndrome type IIa that is different from that of other types of Usher syndrome II. Thus, this is to our knowledge one of the first studies showing a genotype-phenotype auditory correlation.
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27.
  • Sadeghi, Mehdi, et al. (författare)
  • The prevalence of Usher syndrome in Sweden : a nationwide epidemiological and clinical survey
  • 2004
  • Ingår i: Audiological Medicine. - : Informa UK Limited. - 1651-386X .- 1651-3835. ; 2:4, s. 220-228
  • Tidskriftsartikel (refereegranskat)abstract
    • The purpose of this study was to estimate the prevalence of Usher syndrome types I, II and III in Sweden and to estimate possible regional differences in the prevalence of different Usher syndrome subtypes within the country. Probands were ascertained through multiple sources and almost complete ascertainment was achieved. A total of 370 subjects with a referring diagnosis of Usher was ascertained. Of those, 77 subjects proved to have an incorrect preliminary diagnosis. Of the remaining 293 individuals, 140 were found to have Usher syndrome type I, 122 subjects were diagnosed as type II, and 27 subjects had Usher syndrome type III. The corresponding prevalence in Sweden was estimated to be 1.6/100,000 for type I, 1.4/100.000 for type II and 0.3/100.000 for type III. The prevalence of Usher I was found to be significantly higher (8.6/100.000) in the two northernmost counties. This is consistent with an earlier report made in the 1950s. Similar geographic concentrations of Usher II and III were not observed. Usher syndrome types IB, ID and IIA were found to be the most common subtypes in Sweden. The age of diagnosis in all 3 types was late and the prevalence was higher at older ages. To our knowledge this is the largest genetic/epidemiological study on patients with Usher syndrome carried out to date. It provides critical information for genetic counselling and public health planning of this important disorder.
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28.
  • Weston, M. D., et al. (författare)
  • Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa (USH2A)
  • 2000
  • Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 66:4, s. 199-210
  • Tidskriftsartikel (refereegranskat)abstract
    • Usher syndrome type IIa (USHIIa) is an autosomal recessive disorder characterized by moderate to severe sensorineural hearing loss and progressive retinitis pigmentosa. This disorder maps to human chromosome 1q41. Recently, mutations in USHIIa patients were identified in a novel gene isolated from this chromosomal region. The USH2A gene encodes a protein with a predicted molecular weight of 171.5 kD and possesses laminin epidermal growth factor as well as fibronectin type III domains. These domains are observed in other protein components of the basal lamina and extracellular matrixes; they may also be observed in cell-adhesion molecules. The intron/exon organization of the gene whose protein we name "Usherin" was determined by direct sequencing of PCR products and cloned genomic DNA with cDNA-specific primers. The gene is encoded by 21 exons and spans a minimum of 105 kb. A mutation search of 57 independent USHIIa probands was performed with a combination of direct sequencing and heteroduplex analysis of PCR-amplified exons. Fifteen new mutations were found. Of 114 independent USH2A alleles, 58 harbored probable pathologic mutations. Ten cases of USHIIa were true homozygotes and 10 were compound heterozygotes; 18 heterozygotes with only one identifiable mutation were observed. Sixty-five percent (38/58) of cases had at least one mutation, and 51% (58/114) of the total number of possible mutations were identified. The allele 2299delG (previously reported as 2314delG) was the most frequent mutant allele observed (16%; 31/192). Three new missense mutations (C319Y, N346H, and C419F) were discovered; all were restricted to the previously unreported laminin domain VI region of Usherin. The possible significance of this domain, known to be necessary for laminin network assembly, is discussed in the context of domain VI mutations from other proteins.
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29.
  • Weston, Michael D., et al. (författare)
  • Mutations in the VLGR 1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II
  • 2004
  • Ingår i: American Journal of Human Genetics. - 0002-9297 .- 1537-6605. ; 74:2, s. 357-366
  • Tidskriftsartikel (refereegranskat)abstract
    • Usher syndrome type II (USH2) is a genetically heterogeneous autosomal recessive disorder with at least three genetic subtypes (USH2A, USH2B, and USH2C) and is classified phenotypically as congenital hearing loss and progressive retinitis pigmentosa. The VLGR1 (MASS1) gene in the 5q14.3-q21.1 USH2C locus was considered a likely candidate on the basis of its protein motif structure and expressed-sequence-tag representation from both cochlear and retinal subtracted libraries. Denaturing high-performance liquid chromatography and direct sequencing of polymerase-chain-reaction products amplified from 10 genetically independent patients with USH2C and 156 other patients with USH2 identified four isoform-specific VLGR1 mutations (Q2301X, I2906FS, M2931FS, and T6244X) from three families with USH2C, as well as two sporadic cases. All patients with VLGR1 mutations are female, a significant deviation from random expectations. The ligand(s) for the VLGR1 protein is unknown, but on the basis of its potential extracellular and intracellular protein-protein interaction domains and its wide mRNA expression profile, it is probable that VLGR1 serves diverse cellular and signaling processes. VLGR1 mutations have been previously identified in both humans and mice and are associated with a reflex-seizure phenotype in both species. The identification of additional VLGR1 mutations to test whether a phenotype/genotype correlation exists, akin to that shown for other Usher syndrome disease genes, is warranted.
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