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  • 2020-2023  (1)
  • 1980-1984  (8)
  • 1975-1979  (5)
  • 1970-1974  (2)
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Year
  • 1
    Electronic Resource
    Electronic Resource
    Quantitative analysis of C bands in chromosomes 1, 9, and 16 of Brazilian Indians and Caucasoids (1981)
    Springer
    Human genetics 〈Berlin〉 57 (1981), S. 58-63 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Densitometric C-band measurements in chromosomes 1, 9, and 16 of 394 Indians and 40 Caucasoids living in Brazil are reported. No significant intratribal variability in the average length of these regions was observed, and the intertribal variation showed no consistent patterns. But the Caucasoids always presented lower means. The relative C-band sizes of these three chromosomes, however, were very similar in Indians and Caucasoids. The indices of heteromorphism displayed analogous results; only in chromosome 16 are they dissimilar in these two ethnic groups. An unexpected sex difference was observed in the C-band sizes of this chromosome, females uniformly presenting higher averages than males. Centromeric heterochromatin appeared in 6% and 9% respectively of the short arms of chromosomes 1 and 9 among the Caucasoids, while among the Indians its prevalence was 2% in both chromosomes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00271168
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  • 2
    Electronic Resource
    Electronic Resource
    Senescence and human chromosome changes (1975)
    Springer
    Human genetics 〈Berlin〉 27 (1975), S. 1-8 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Chromosome counts and a search for structural abnormalities were performed in cultured leukocytes from 60 elderly subjects (ages 62–96) and 60 controls (ages 10–13). A total of 3900 cells were examined, 3600 in 3-day cultures and 300 in cultivations maintained for 2 days. Our results and those obtained by other investigators indicate clearly that there is an increase in the level of aneuploidy and of structural abnormalities in the blood of aged persons. There is an excess of missing C-group chromosomes in elderly females, but no consistent preferential loss was observed among the males. In contrast with two previous studies, we found a significant decrease of aneuploid cells in 3-day cultures, as compared to those cultivated for 2 days only.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00283497
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  • 3
    Electronic Resource
    Electronic Resource
    Smaller autosomal C band sizes in blacks than in caucasoids (1984)
    Springer
    Human genetics 〈Berlin〉 66 (1984), S. 286-286 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00286619
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  • 4
    Electronic Resource
    Electronic Resource
    Chromosome studies in patients with congenital malformations and mental retardation (1975)
    Springer
    Human genetics 〈Berlin〉 26 (1975), S. 297-306 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary 16 (41%) out of 39 individuals referred by physicians because of sexual anomalies showed abnormal karyotypes; the corresponding figure for those investigated due to suspected autosomal aberrations was 37 out of 104 (36%). A special survey was also conducted among 51 mentally defective children with at least 3 malformations; 5 individuals (10%) were observed with chromosome abnormalities plus 3 (6%) with rare variants. These results were compared with those presented in 26 other surveys reported in the literature.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00285381
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  • 5
    Electronic Resource
    Electronic Resource
    Cytogenetic, clinical and genealogical analyses in a series of gonadal dysgenesis patients and their families (1971)
    Springer
    Human genetics 〈Berlin〉 13 (1971), S. 126-143 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung 46 Personen mit Symptomen der Gonadendysgenesie wurden untersucht. 16 von ihnen waren 45,XO und zeigten Symptome des Turner-Syndroms. 15 erwiesen sich als Chromosomenmosaiken; 12 von ihnen zeigten ebenfalls das Turner-Syndrom, 2 zeigten eine gemischte Gonadendysgenesie, während 1 Patient ein Gonadoblastom aufwies. Außerdem wurden 2 Fälle von einer Gonadendysgenesie und 13 Patienten mit normalem Karyotyp beobachtet. Die klinischen und genealogischen Daten von diesen Patienten und ihren Familien wurden mit denen aus 26 Literaturserien verglichen. Außer den Störungen der sexuellen Entwicklung sind die folgenden Mißbildungen häufig: Kleinwuchs, abnorme Nägel, niedrige Haargrenze, Pigmentnaevi, schildförmiger Torax, kurzer Hals, Cubitus valgus. Im allgemeinen zeigen Personen mit 45,XO-Karyotypen ein schwereres klinisches Bild als Mosaiken. Unter den Geschwistern der Patienten finden sich Zwillinge häufiger als erwartet; das gilt auch für 3 der 5 anderen Serien, für die Daten verfügbar sind.
    Notes: Summary 46 individuals, ascertained due to gonadal dysgenesis symptoms, were studied. 16 of them were 45, X and showed characteristics of Turner's syndrome. 15 proved to be chromosome mosaics and presented Turner's syndrome (12 cases), mixed gonadal dysgenesis (2) and gonadoblastoma (1). There were also 2 cases of pure gonadal dysgenesis and 13 patients with normal karyotypes. The clinical and genealogical data obtained from these individuals and their families were compared with 26 other series reported in the literature. Common malformations besides those related to sexual development are: short stature, abnormal nails, low implantation of hair, pigmented naevi, shield chest, short neck and cubitus valgus. Persons with 45,X karyotypes generally presented a more severe clinical picture than mosaics. The prevalence of twins is higher than expected among the patients' sibs in the cases reported here and in 3 of the 5 other series for which data are available.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00295794
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  • 6
    Electronic Resource
    Electronic Resource
    Effect of sex, age and cultivation time on number of satellites and acrocentric associations in man (1975)
    Springer
    Human genetics 〈Berlin〉 29 (1975), S. 265-270 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Lymphocyte cultures of 120 normal persons evenly distributed in relation to sex and age groups were studied. A total of 3900 cells were examined, 3600 in 3-day cultures and 300 in cultivations maintained for 2 days. In both age groups (10–13; 62–96 years) men showed higher numbers of satellites per cell but less cells with D/G associations. Older subjects presented a lower number of cells with D satellites and acrocentric associations; the pattern of these associations, however, did not seem to vary with age. The mean number of associations per cell decreased significantly in 3-day as opposed to 2-day cultures.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00394187
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  • 7
    Electronic Resource
    Electronic Resource
    Chromosome relationships in three representatives of the genusHolochilus (Rodentia, Cricetidae) from Brazil (1983)
    Springer
    Genetica 61 (1983), S. 13-20 
    Details
    ISSN: 1573-6857
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract The G- and C-banded karyotype ofHolochilus brasiliensis collected in central Brazil (2n=55, AN=56, acrocentric X and Y) can be regarded as the most representative of the ancestral form of the genus.H. magnus (2n=52, AN=58, acrocentric X and Y) andH. brasiliensis vulpinus (2n=40, AN=56), both living in southern Brazil, would be in different phases of chromosome number reduction due to centric fusions.H. magnus, in addition, shows an X of variable morphology and a metacentric Y. This fact, coupled with its distinct morphology and restricted distribution, suggests that it may represent a distinct trend in the genus' main evolutionary line.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00563228
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  • 8
    Electronic Resource
    Electronic Resource
    Supernumerary chromosomes, Robertsonian rearrangement and variability of the sex chromosomes inNectomys squamipes (Cricetidae, Rodentia) (1984)
    Springer
    Genetica 63 (1984), S. 121-128 
    Details
    ISSN: 1573-6857
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Chromosomes were analyzed in 91 specimens ofNectomys squamipes, collected in three distinct geographic regions of Brazil. Chromosomal polymorphism due to supernumerary chromosomes, Robertsonian rearrangement and variation of sex chromosomes is reported. Samples collected in the northeastern region had 2n=52, FN=52; 2n=53, FN=54; 2n=54, FN=56; 2n=55, FN=56; 2n=56, FN=56; 2n=57, FN=57. The specimens from the southeastern and southern regions showed 2n=55, FN=56; 2n=56, FN=56; 2n=57, FN=58; 2n=58, FN=60; 2n=59, FN=62. Seven different types of supernumeraries were observed. These vary in size, morphology and C-banding characteristics. The Brazilian populations ofNectomys squamipes are composed of at least two basic entities, one with 2n=52 and its increasing series up to 2n=55, the other with 2n=56, increasing to 2n=59. Both entities are characterized by variation from 0 to 3 supernumeraries. The X and Y chromosomes present polymorphisms in terms of the size, shape as well as the distribution of constitutive heterochromatin.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00605896
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  • 9
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    Checking the site categorization criteria and amplification factors of the 2021 draft of Eurocode 8 Part 1–1 (2021)
    Springer Nature
    Details
    Publication Date: 2021-11-29
    Description: In this paper the site categorization criteria and the corresponding site amplification factors proposed in the 2021 draft of Part 1 of Eurocode 8 (2021-draft, CEN/TC250/SC8 Working Draft N1017) are first introduced and compared with the current version of Eurocode 8, as well as with site amplification factors from recent empirical ground motion prediction equations. Afterwards, these values are checked by two approaches. First, a wide dataset of strong motion records is built, where recording stations are classified according to 2021-draft, and the spectral amplifications are empirically estimated computing the site-to-site residuals from regional and global ground motion models for reference rock conditions. Second, a comprehensive parametric numerical study of one-dimensional (1D) site amplification is carried out, based on randomly generated shear-wave velocity profiles, classified according to the new criteria. A reasonably good agreement is found by both approaches. The most relevant discrepancies occur for the shallow soft soil conditions (soil category E) that, owing to the complex interaction of shear wave velocity, soil deposit thickness and frequency range of the excitation, show the largest scatter both in terms of records and of 1D numerical simulations. Furthermore, 1D numerical simulations for soft soil conditions tend to provide lower site amplification factors than 2021-draft, as well as lower than the corresponding site-to-site residuals from records, because of higher impact of non-linear (NL) site effects in the simulations. A site-specific study on NL effects at three KiK-net stations with a significantly large amount of high-intensity recorded ground motions gives support to the 2021-draft NL reduction factors, although the very limited number of recording stations allowing such analysis prevents deriving more general implications. In the presence of such controversial arguments, it is reasonable that a standard should adopt a prudent solution, with a limited reduction of the site amplification factors to account for NL soil response, while leaving the possibility to carry out site-specific estimations of such factors when sufficient information is available to model the ground strain dependency of local soil properties.
    Description: Published
    Description: 4199–4234
    Description: 5T. Sismologia, geofisica e geologia per l'ingegneria sismica
    Description: JCR Journal
    Repository Name: Istituto Nazionale di Geofisica e Vulcanologia (INGV)
    Type: article
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  • 10
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    Supernumerary chromosomes, Robertsonian rearrangement and variability of the sex chromosomes inNectomys squamipes (Cricetidae, Rodentia) (1984)
    Springer
    Details
    Publication Date: 1984-01-01
    Print ISSN: 0016-6707
    Electronic ISSN: 1573-6857
    Topics: Biology
    Published by Springer
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    PAPER CURRENT
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