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  • 1
    Electronic Resource
    Electronic Resource
    Palo Alto, Calif. : Annual Reviews
    Annual Review of Ecology, Evolution, and Systematics 23 (1992), S. 237-261 
    ISSN: 0066-4162
    Source: Annual Reviews Electronic Back Volume Collection 1932-2001ff
    Topics: Biology
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-0711
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 3
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    Unknown
    Washington, D.C. : Periodicals Archive Online (PAO)
    Arts Education Policy Review. 22:5 (1920:Sept.) 82 
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  • 4
    facet.materialart.
    Unknown
    Washington, D.C. : Periodicals Archive Online (PAO)
    Arts Education Policy Review. 22:6 (1920:Oct.) 93 
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  • 5
    ISSN: 1432-069X
    Keywords: Congenital ichthyosis ; Hypogonadism ; Hyperproliferation ; Interlacing filament deposits ; Nuclear pseudoinclusions
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A male patient presented with a congenital ichthyosis clinically characterized by generalized erythroderma, fine scaling on the trunk and palmoplantar hyperkeratoses with severely affected nails. The acanthotic epidermis was characterized by hyperproliferation with a large quantity of mitoses and extremely suppressed keratinization without a normal granular layer. The horny layer was parakeratotic and contained remnants of cell debris and lipid droplets. Ultrastructurally the prickle cell layer was characterized by binuclear cells, oedematization of the keratinocytes and isolated dyskeratotic cells. Some suprabasal cells showed unusual morphological features, containing nuclei with cytoplasmic pseudoinclusions, sometimes leading to a complete disintegration of the nuclear structure, and bowl- and lens-shaped accumulations of a filamentous material. Instead of normal tonofibrils, the aggregated material consisted of fine interlacing filaments. The latter are compared with the filamentous shells in ichthyosis hystrix Curth-Macklin and congenital reticular ichthyosiform erythroderma. The clinical symptomatology — congenital ichthyosis, growth retardation, secondary hypogonadism, hepatomegaly — and the ultrastructural characteristics of the keratinization disorder indicate that the present case cannot be considered as a subtype of the recessively inherited ichthyosis congenita group, but suggest a new syndrome as a separate nosologic entity.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Archives of dermatological research 280 (1988), S. 268-278 
    ISSN: 1432-069X
    Keywords: Ichthyosis congenita ; Lamellar ichthyosis ; Keratinosome abnormalities
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We describe one type of the heterogeneous ichthyosis congenita group, inherited autosomal-recessively, noting its clinical and ultrastructural features based on the findings in a female patient, aged 30 at the time of first clinical and ultrastructural investigation, and supplemented with those of eight further patients, aged 2 to 22 years. Clinically this keratinization disorder was characterized by a generalized congenital ichthyosis with a reticulate skin pattern pronounced in a variable degree of severity, also involving the large flexures and the face, palms, and soles. Typical ultrastructural criteria were membrane structures, abnormal vesicular keratinosomes, vesicular complexes, and membrane-bound vacuoles within the cytoplasm of the granular cells, partly retained in the horny layer. A successful therapy with retinoids resulted in a complete removal of the hyperkeratoses but left the striking skin pattern unchanged. The morphological peculiarities remained unaltered as well. They are independent of the localization of the biopsies, of age and sex of the patients, and of oral and local treatment. Based on the clinical and ultrastructural features, this scaling disorder can be delineated against all other inherited ichthyoses and was termed ichthyosis congenita type III. A new nomenclature contributing to a distinct classification within the heterogeneous ichthyosis congenita group is discussed.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Chromosoma 94 (1986), S. 183-188 
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A highly repeated family of sequences from the grasshopper Caledia captiva shows a dispersed distribution at the cytological level. Members of this 185 bp sequence family are not restricted to C-band heterochromatin, but rather are distributed in regions which appear as euchromatin in C-banded chromosomes. Sequence variation in this family is equivalent (14%–16%) at all levels of taxonomic comparison from within a population to between species. However, contiguous repeats demonstrate a much lower level of variation (9%). These, and other data, indicate that the concept of sequence “homogeneity” within a family of highly repeated sequences must be qualified with respect to the extensive variation between members of a given family. Comparison of the data for the 185 bp family with those from a study of a second highly repeated family, from the same taxon, demonstrates divergent patterns of evolution. Thus, the 185 bp repeats show much greater sequence variation, as well as a seemingly random pattern of incorporation of base pair alterations. The factors which may contribute to the observed pattern of variation include the time since the sequence family originated, its cytological distribution, the frequency of unequal crossing over and gene conversion and natural selection.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 62 (1982), S. 180-180 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 71 (1985), S. 301-311 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The late onset of normal keratinization after week 24 menstrual age (MA) of fetal life is the cause of considerable problems with the prenatal diagnosis of congenital ichthyosis. This paper summarizes the experiences with prenatal diagnosis in nine pregnancies at risk of congenital ichthyosis and one at risk of chondrodysplasia punctata, rhizomelic type. An important prerequisite—and the main problem—is the manifestation of the mutant genes early enough in fetal life to allow a safe exclusion. Continuous precocious keratinization of the interfollicular epidermis, hyperkeratosis, and/or specific markers of congenital ichthyosis such as various types of lipid inclusions had been expected. With a normal ultrastructure and development of fetal epidermis no evidence of ichthyosis was present in eight cases; all eight children were born healthy. Regional variations of the onset of keratinization of the interfollicular epidermis, observed in one of these eight fetuses as well as in one fetus at risk (but normal for) recessive dystrophic epidermolysis bullosa, posed considerable problems and might lead to a false-positive diagnosis. Examination after birth allowed one to localize these regions to areas close to the mamillae. Regional variations in addition to the well-known cranio-caudal gradient thus are normal findings: both children have normal skin. One fetus at risk of nonbullous congenital ichthyosiform erythroderma (type II) was involved without prenatal manifestation of interfollicular keratinization, specific markers, or increased numbers of cornified cells in the pilosebaceous follicles at 20 weeks MA. A slightly more irregular pattern of the horn cell contents was not regarded as sufficient evidence alone to indicate congenital ichthyosis. A severely affected boy was born in week 34 MA. Similarly the fetus at risk of chondrodysplasia punctata showed no skin abnormalities, neither at fetoscopy (week 22 MA) nor after abortion (week 24 MA) although based on other clinical features it was clearly affected. Thus, this genodermatosis cannot be diagnosed prenatally by its keratinization disturbances. In future cases, precocious keratinization and hyperkeratosis cannot be expected to be expressed before week 24 MA, and minor signs, such as irregularities of horn cell contents, have to be taken as an indication of involvement. Multiple biopsies are required, and a safe exclusion may be impossible before week 22 MA.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    Chromosoma 93 (1985), S. 183-190 
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract C-band variation between the Caledia taxa is extensive with numerous large interstitial and telomeric blocks of heterochromatin being present in the South-east Australian and Moreton taxa while the Torresian types possess small centromeric or telomeric C-bands. In situ hybridization using 3H-cRNA from a 168 bp (base pairs) highly repeated sequence, originally isolated from the South-east Australian taxon, defined further variation between the C. captiva taxa. This sequence family is present in each of the interstitial and telomeric constitutive heterochromatic blocks in the South-east Australian and Moreton taxa. However, it is represented in only a fraction of the heterochromatic regions, defined by C-banding, within the three Torresian types. A second, unrelated 144 bp sequence family, originally isolated from the Daintree taxon, is restricted to the procentric blocks of heterochromatin of chromosomes 2–7, 9 and 10 in the Daintree taxon. This sequence is A-T rich and possesses a region of dyad symmetry. Quantitative measurements for the two sequence families revealed a wide range of copy numbers between the C. captiva taxa. The 168 bp family has approximately 150,000, 35,000 and 4,000 copies, respectively, in the South-east Australian/ Moreton, Torresian and Daintree genomes. There are 2,000,000 and 100,000 copies of the 144 bp sequence in the Daintree and Papuan Torresian taxa, respectively. The distributional, quantitative and sequence characteristics of these repeat families imply that past amplification or introgression has played a major role in the evolution of these sequences. There is an overall negative correlation between the quantity of the 168 bp sequence and the levels of reproductive isolation and genie divergence between the various taxa. It is possible that some of the reduction in the viability of the hybrid individuals is due to the quantitative changes in these sequences. Moreover, the quantitative and qualitative characteristics of highly repeated DNA families may play a role in the modulation of such essential cellular functions as cell cycle duration, nuclear organization and gene expression.
    Type of Medium: Electronic Resource
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