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  • Articles  (81)
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  • 1
    Electronic Resource
    Electronic Resource
    A third gene locus for tuberous sclerosis is closely linked to the phenylalanine hydroxylase gene locus (1991)
    Springer
    Human genetics 〈Berlin〉 88 (1991), S. 85-90 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Following the observation of a patient suffering from tuberous sclerosis (TSC) with a de novo reciprocal translocation t(3;12)(p26.3;q23.3), we have undertaken a linkage study in 15 TSC families using polymorphic DNA markers neighbouring the chromosome breakpoints. Significant lod scores have been obtained for markers D12S7 (z max=2.34, θ=0.14) and PAH (phenylalanine hydroxylase) (z max=4.34, θ=0.0). In multipoint linkage analysis, the peak lod score was 4.56 at the PAH gene locus. These data suggest the existence of a third gene locus for TSC (TSC3) on chromosome 12q22-24.1. The regions that have been found to be linked to TSC in different families map to the positions of three enzymes, phenylalanine hydroxylase (12q22-24), tyrosinase (11q14-22), and dopamine-beta-hydroxylase (9q34), all of which are involved in the conversion of phenylalanine to catecholamine neurotransmitters or melanin. Disorders of these biochemical pathways might be involved in the pathogenesis of TSC.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00204934
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  • 2
    Electronic Resource
    Electronic Resource
    Thematic studies in alpine areas by means of polarimetric SAR and optical imagery
    Amsterdam : Elsevier
    Advances in Space Research 14 (1994), S. 217-226 
    Details
    ISSN: 0273-1177
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics , Physics
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1016/0273-1177(94)90218-6
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  • 3
    Electronic Resource
    Electronic Resource
    Synergism of SAR and Landsat TM imagery for thematic investigations in complex terrain
    Amsterdam : Elsevier
    Advances in Space Research 12 (1992), S. 425-431 
    Details
    ISSN: 0273-1177
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics , Physics
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0273-1177(92)90249-W
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  • 4
    Electronic Resource
    Electronic Resource
    Synthetic aperture radar capabilities for snow and glacier monitoring
    Amsterdam : Elsevier
    Advances in Space Research 4 (1984), S. 241-246 
    Details
    ISSN: 0273-1177
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics , Physics
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0273-1177(84)90418-6
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  • 5
    Electronic Resource
    Electronic Resource
    Microwave emission of snow-covered and snow-free terrain from satellite measurements
    Amsterdam : Elsevier
    Advances in Space Research 9 (1989), S. 289-295 
    Details
    ISSN: 0273-1177
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics , Physics
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0273-1177(89)90496-1
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  • 6
    Electronic Resource
    Electronic Resource
    Chromosomal aberrations and anticonvulsant drugs
    Amsterdam : Elsevier
    Mutation Research Letters 21 (1973), S. 35 
    Details
    ISSN: 0165-7992
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1016/0165-7992(73)90047-X
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  • 7
    Electronic Resource
    Electronic Resource
    Preface
    Amsterdam : Elsevier
    Advances in Space Research 9 (1989), S. 231-232 
    Details
    ISSN: 0273-1177
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics , Physics
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0273-1177(89)90490-0
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  • 8
    Electronic Resource
    Electronic Resource
    Vergleichende Untersuchungen der Energiebilanz im Hochgebirge (1979)
    Springer
    Meteorology and atmospheric physics 28 (1979), S. 211-232 
    Details
    ISSN: 1436-5065
    Source: Springer Online Journal Archives 1860-2000
    Topics: Geography , Physics
    Description / Table of Contents: Summary In the summer months of 1976 to 1978 the surface energy balance was measured at Obergurgl-Wiese (1960 m a.s.l.) and at Hohe Mut (2560 m a.s.l.) in the Tyrolean Alps. As first result the components of the energy balance at the two stations were analyzed for 8 clear summer days. Microclimate is different at the two stations because of the vegetation (meadow and curvuletum, resp.), because of the location near the bottom of the valley and on a mountain ridge and because of the altitude difference of 600 m. Hourly values of the energy balance components are calculated from radiation measurements, from soil temperatures, and from profiles of air temperature and water vapour using the Bowen ratio method. For the period of positive radiation balance on clear summer days Bowen ratio values of 0.5 to 0.8 are representative for the curvuletum of the Hohe Mut, for the meadow at Obergurgl the values are 0.2 to 0.6. At the two stations the Bowen ratio values increase during summer because vegetation dries up. The diurnal variation of the Bowen ratio is different at the two stations due to vegetation and water balance. In order to check the laws of turbulent transport for applications in mountainous regions, the product of dimensionless wind shear and dimensionless temperature gradient was calculated from wind profile measurements and energy fluxes at the Hohe Mut. The relationship of these parameters to the stability parameters Richardson number and dimensionless height correspond to relations found over homogeneous, level terrain.
    Notes: Zusammenfassung In den Sommermonaten der Jahre 1976 bis 1978 wurden an den Stationen Obergurgl-Wiese (1960 m) und Hohe Mut (2560 m) in den Ötztaler Alpen Wärmehaushaltsmessungen durchgeführt. Als erste Ergebnisse dieser Untersuchungen werden die Komponenten der Energiebilanz an beiden Stationen für je 4 heitere Sommertage 1976 und 1977 analysiert. Unterschiede im Mikroklima beider Stationen werden auf die Vegetation, Bergwiese bzw. Curvuletum der alpinen Grasheide, auf die Lage nahe dem Talboden bzw. auf einem Bergrücken und auf die Höhendifferenz von 600 m zurückgeführt. Die Komponenten der Energiebilanz wurden aus Strahlungsmessungen, aus Profilen der Bodentemperatur und aus Profilmessungen von Lufttemperatur und Dampfdruck über das Bowen-Verhältnis stundenweise berechnet. Für das Curvuletum der Hohen Mut sind an heiteren Sommertagen für die Periode positiver Strahlungsbilanz Bowen-Verhältnisse von 0,5 bis 0,8 repräsentativ, für die Bergwiese Werte von 0,2 bis 0,6. An beiden Stationen kann man am Anstieg des Bowen-Verhältnisses im Laufe der Vegetationsperiode die zunehmende Austrocknung erkennen. Im Tagesgang hingegen verhält sich das Bowen-Verhältnis an den zwei Stationen unterschiedlich, was durch Vegetation und Wasserhaushalt bedingt ist. Um für die Messungen im Hochgebirge die Anwendbarkeit der Gesetze des turbulenten Austausches zu überprüfen, wurde bei labiler Schichtung aus Windprofil und Energieflüssen auf der Hohen Mut das Produkt von dimensionslosem Temperaturgradienten und dimensionsloser Windscherung berechnet. Die Beziehung dieser Größen zu den Stabilitätsparametern Richardson-Zahl und dimensionslose Höhe zeigt an der Hochgebirgsstation einen ähnlichen Verlauf wie an Flachlandstationen.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02310167
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  • 9
    Electronic Resource
    Electronic Resource
    Breakup and conditions for stability of the northern Larsen Ice Shelf, Antarctica (1998)
    [s.l.] : Macmillan Magazines Ltd.
    Nature 391 (1998), S. 778-780 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] The breakup of ice shelves has been widely regarded as an indicator of climate change, with observations around the Antarctic Peninsula having shown a pattern of gradual retreat, associated with regional atmospheric warming and increased summer melt and fracturing processes. The rapid collapse ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/35832
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  • 10
    Electronic Resource
    Electronic Resource
    C 11/D 13-translocation in four generations (1972)
    Springer
    Human genetics 〈Berlin〉 14 (1972), S. 300-305 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung In einem Stammbaum mit familiärer C 11/D 13-translokation wurden die Chromosomen von 18 Personen in 4 Generationen untersucht. Bei 8 Personen fand sich ein normaler Karyotyp, in 8 Fällen war eine balancierte Translokation vorhanden. Insgesamt wurden 7 Kinder mit verschiedenen Mißbildungen registriert, von denen 5 zur Zeit der Untersuchung bereits verstorben waren. Bei den beiden anderen wurde eine unbalancierte C 11/D 13-Translokation mit partieller trisomie für den langen Arm des Chromosoms C 11 gefunden. Diese Kinder wiesen das gleiche Mißbildungssyndrom mit geistiger Retardierung, geringem Geburtsgewicht, Cutis laxa, Hypertelorismus, breiter flacher Nase, Mikrognathie mit eingezogener Unterlippe, Herzfehler und Hautleistendysplasien auf. Eine Frau der dritten Generation wies neben der balancierten C 11/D 13-Translokation ein Triplo-X auf. Von 10 Schwangerschaften endeten bei dieser Frau 5 mit einem Abort, 2 Kinder starben an multiplen Mißbildungen, und lediglich 3 Kinder waren gesund.
    Notes: Summary In a pedigree with familial C 11/D 13-translocation the chromosomes of 18 persons in 4 generations were analyzed. 8 of them had a normal karyotype, in 8 cases a balanced translocation was found. Totally 7 children with different multiple malformations were observed, 5 of whom had already died at the time of investigation. The other 2 showed an unbalanced translocation C 11/D 13 with partial trisomy for the long arm of chromosome C 11. These children showed the same syndrome (mental retardation, low birth weight, cutis laxa, hypertelorism, broad flat nose, micrognathia with retracted lower lip, heart malformation, ridge dysplasia of dermatoglyphics). One woman of the third generation with a balanced translocation C 11/D 13 additionally showed a triplo-X constitution. Among 10 pregnancies this woman had 5 abortions and 5 children, 2 of them with multiple malformations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00290171
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