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  • 2017
  • swepub:Mat__t
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  • Markovic, S.B., et al. (author)
  • The Crvenka loess-paleosol sequence : A record of continuous grassland domination in the southern Carpathian Basin during the Late Pleistocene
  • 2018
  • In: Palaeogeography, Palaeoclimatology, Palaeoecology. - : Elsevier BV. - 0031-0182 .- 1872-616X. ; 509, s. 33-46
  • Journal article (peer-reviewed)abstract
    • In this study, we compare two independent paleoenvironmental proxies for a loess sequence in northern Serbia, in the southern Carpathian Basin: novel n-alkane biomarkers and traditional land snail assemblages. Both are associated with other, more widely used proxy data for loess sections, such as environmental magnetism, grain size, and geochemical indices. Together, these paleoenvironmental proxy records provide evidence for the continued dominance of grasslands during the Late Pleistocene in the Southern Carpathian Basin. It is contrary to other European loess provinces, which are characterized by high diversity of Late Pleistocene environments (ranging from tundra-like to deciduous forest habitats). These findings highlight the southeastern part of Carpathian Basin as an important, but still insufficiently investigated, biogeographical refugium, and biodivarsity preservation zone. The reason for this is a mostly stable paleoclimate for much of the Late Pleistocene.
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  • Weston, M. D., et al. (author)
  • Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients
  • 1996
  • In: American Journal of Human Genetics. - 0002-9297 .- 1537-6605. ; 59:5, s. 1074-1083
  • Journal article (peer-reviewed)abstract
    • Usher syndrome type 1b (USH1B) is an autosomal recessive disorder characterized by congenital profound hearing loss, vestibular abnormalities, and retinitis pigmentosa. The disorder has recently been shown to be caused by mutations in the myosin VIIa gene (MYO7A) located on 11q14. In the current study, a panel of 189 genetically independent Usher I cases were screened for the presence of mutations in the N-terminal coding portion of the motor domain of MYO7A by heteroduplex analysis of 14 exons. Twenty-three mutations were found segregating with the disease in 20 families. Of the 23 mutations, 13 were unique, and 2 of the 13 unique mutations (Arg212His and Arg212Cys) accounted for the greatest percentage of observed mutant alleles (8/23, 31%). Six of the 13 mutations caused premature stop codons, 6 caused changes in the amino acid sequence of the myosin VIIa protein, and 1 resulted in a splicing defect. Three patients were homozygotes or compound heterozygotes for mutant alleles; these three cases were Tyr333Stop/Tyr333Stop, Arg212His-Arg302His/Arg212His-Arg302His, and IVS13nt-8c-->g/Glu450Gln. All the other USH1B mutations observed were simple heterozygotes, and it is presumed that the mutation on the other allele is present in the unscreened regions of the gene. None of the mutations reported here were observed in 96 unrelated control samples, although several polymorphisms were detected. These results add three patients to single case reported previously where mutations have been found in both alleles and raises the total number of unique mutations in MYO7A to 16.
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  • Result 1-8 of 8

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