Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Wallace P.) srt2:(2000-2004)"

Sökning: WFRF:(Wallace P.) > (2000-2004)

  • Resultat 1-4 av 4
Sortera/gruppera träfflistan
  • Bruder, Carl E. G., et al. (författare)
  • High resolution deletion analysis of conctitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH
  • 2001
  • Ingår i: Human Molecular Genetics. - Oxford, United Kingdom : Oxford University Press. - 0964-6906 .- 1460-2083. ; 1, s. 271-
  • 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.
  • Chmielowski, Reia, et al. (författare)
  • Duplex structure and Paleocene displacement of the Toyuk thrust zone near the Dalton Highway, north-central Brooks Range
  • 2000
  • Ingår i: Short Notes on Alaska Geology 1999. - : Alaska Department of Natural Resources. ; , s. 11-32
  • Bokkapitel (refereegranskat)abstract
    • The Toyuk thrust zone is a regional tectonic boundary in the central Brooks Range of northern Alaska that has been interpreted previously as a single large-displacement fault. Just west of the Dalton Highway, the thrust zone is defined by several north-vergent imbricate thrust faults. These faults have cut detachment folds formed in the competent Kanayut Conglomerate between detachments in the underlying Hunt Fork Shale and overlying Kayak Shale, thereby forming a duplex. The exposed structural geometry suggests two endmember models of duplex geometry. In model one, each linking thrust has roughly the same small displacement and the roof thrust is overlain by a normal stratigraphic succession. In model two, the uppermost and hindmost fault has greater displacement than the other faults and so forms a duplex roof above which the stratigraphic section is duplicated. Discrimination between these models is not possible because the duplex roof has been eroded in the field area.Apatite fission-track analyses of samples collected within the Toyuk thrust zone record two distinct episodes of cooling interpreted to represent unroofing in response to tectonic deformation. The initial episode occurred at ~100 Ma, while the later episode occurred at ~60 Ma. These two cooling/denudation events have been documented previously in the region, but the samples from the thrust zone are the first to document displacement on a specific fault during the ~60 Ma event so far south of the front of the central Brooks Range. The results suggest that at least part of the growth of the Toyuk thrust zone accommodated structural thickening within the orogenic wedge coeval with deformation at the range front.
Skapa referenser, mejla, bekava och länka
  • Resultat 1-4 av 4

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy