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  • 1
    Electronic Resource
    Electronic Resource
    Fanconi anaemia in Italy: high prevalence of complementation group A in two geographic clusters (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 599-603 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Cell fusion studies using lymphoblastoid cell lines from Fanconi anaemia (FA) patients have identified five complementation groups (FA-A to FA-E) among European FA patients. In Italy, of the 45 FA families referred to the Italian Registry of Fanconi Anaemia (RIAF), 15 took part in a project for the identification of complementation groups. Since three immortalized lymphoblast lines were resistant to a cross-linking agent, we analysed only 12 patients by complementation analysis and found that 11 belong to complementation group A. Four and seven families came from two geographic clusters in the Veneto and Campania regions, respectively, which are thought to consist of aggregates of related families in reproductive isolation. The clinical characteristics of the patients showed both intra- and interfamilial heterogeneity, although overall the disease had a relatively mild course. Since the populations in both Veneto and Campania are likely to represent genetic isolates, our finding predicts linkage disequilibrium for markers flanking the FAA gene. DNAs from these FA families may thus be utilized for positional cloning of this gene through haplotype disequilibrium mapping.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050101
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  • 2
    Electronic Resource
    Electronic Resource
    Linkage analysis of Fanconi anaemia in Italy and mapping of the complementation group A gene (1996)
    Springer
    Human genetics 〈Berlin〉 99 (1996), S. 93-97 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Fanconi anaemia (FA) is an autosomal recessive disease characterised by genetic heterogeneity, with at least five complementation groups (FA-A to FA-E). The FAC gene has been cloned and localised to 9q22.3. The most frequent defective gene, FAA, was recently mapped to chromosome 16q24.3, in a region of 10 cM between D16S498 and the telomere. Eleven FA-A and 16 unclassified Italian families were analysed by microsatellite markers. To define the localisation of the FAA locus further, microsatellites were analysed at 16q24. All the families were consistent with linkage, the highest lod score being observed with D16S1320. Evidence for common haplotypes was obtained in two genetic isolates from the Brenta basin and the Naples region. Autozygosity mapping and haplotype analysis suggest that the FAA locus is distal to D16S305.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050318
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  • 3
    Electronic Resource
    Electronic Resource
    Study of the valence bands of FePS3 and NiPS3 by resonant-photoemission spectroscopy (1984)
    Springer
    Il nuovo cimento della Società Italiana di Fisica 4 (1984), S. 444-452 
    Details
    ISSN: 0392-6737
    Keywords: Nonlocalized single-particle electronic states
    Source: Springer Online Journal Archives 1860-2000
    Topics: Physics
    Description / Table of Contents: Riassunto Le bande di valenza dei tiofosfati FePS3 e NiPS3 sono state studiate utilizzando la tecnica della fotoemissione risonante. Brusche variazioni dell'intensità di alcune strutture degli spettri di distribuzione dell'energia dei fotoelettroni sono state osservate quando l'energia dei fotoni era variata intorno alle soglie di assorbimento 3p del Fe e del Ni. Invece altre strutture mostravano degli spettri di eccitazione lisci. Le prime sono state associate agli stati 3d del metallo di transizione (fotoemissione diretta e satelliti), le seconde agli stati dei gruppi (P2S6)4−. Infine, i risultati ottenuti confermano il modello fortemente ionico di questi composti.
    Abstract: Резюме Мы исследовали валентные зоны тифосфатов FePS3 и NiPS3 с помощью техники резонансной фотоэмиссии. Некоторые структуры кривых энергетичеких распределений обнаруживают быстрые изменения интенсивности, когда энергия фотона проходит через пороги 3p поглощения Fe или Ni. Напротив, другие структуры обнаруживают плавные спектры возбуждения. Первые структуры связаны с переходом ионов металла в состоянии 3d (прямая фотоэмиссии и сателлиты), вторые структуры связаны с (P2S6)4− состояниями. Полученные результаты подтверждают сильно ионную модель этих соединений.
    Notes: Summary We have investigated the valence bands of the tiophosphates FEPS3 and NiPS3 with the resonant-photoemission technique. Some structures of the energy distribution curves show rapid intensity changes when the photon energy is scanned across the Fe or Ni 3p absorption thresholds. Instead, other structures show smooth excitation spectra. We have related the former to the transition metal ion 3d states (direct photoemission and satellites) and the latter to the (P2S6)4− states. These results support also a strongly ionic picture of these compounds.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02450602
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  • 4
    Electronic Resource
    Electronic Resource
    Superconducting wiggler for adone: Design and present status (1991)
    Springer
    Il nuovo cimento della Società Italiana di Fisica 13 (1991), S. 579-613 
    Details
    ISSN: 0392-6737
    Keywords: Superconducting devices ; superconducting magnets
    Source: Springer Online Journal Archives 1860-2000
    Topics: Physics
    Notes: Summary A superconducting wiggler has been designed and built at Laboratori Nazionali INFN in Frascati, Italy, in collaboration with Ansaldo Componenti-Genova, to be used as an insertion device in the Adone storage ring. It will be used as a light source on the 1.5 GeV, 100 mA electron beam of the accelerator, to produce about 1012 photons/s/mrad in 0.1% band width, in the short X-ray wavelength range. In order to minimize the electron beam orbit disortion and to obtain the best phase space distribution of the generated synchrotron radiation (a single bright spot), a superconducting dipole, producing a sharp vertical field peak (6 T, 12 cm FWHM), between two normal conducting side dipoles (0.8T), to compensate the field integral, has been manufactured. The s.c. dipole is made up of 2NbTi coils, separated by a central plate and kept together by two 356 kg total weight iron yokes. The magnet gap is 6 cm and the design current is 360A. The system is contained in a warm bore cryostat and cooled by boiling helium at 4.6K. The static cryostat helium consumption is of 41/h and, when the cryomagnet is energized, it is cooled by a 1430S Koch liquefier/refrigerator on line with it through transfer lines. The stored energy is 184 kJ. This paper describes the latest status of the facility and the verification tests.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02451285
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  • 5
    Electronic Resource
    Electronic Resource
    The search for South European cystic fibrosis mutations: Identification of two new mutations, four variants, and intronic sequences
    Amsterdam : Elsevier
    Genomics 10 (1991), S. 193-200 
    Details
    ISSN: 0888-7543
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1016/0888-7543(91)90500-E
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  • 6
    Electronic Resource
    Electronic Resource
    Fixed-exit double-crystal monochromator for the diffraction beamline at ELETTRA: A new concept for crystal movements : Proceedings of the 5th international conference on synchrotron radiation instrumentation (1995)
    [S.l.] : American Institute of Physics (AIP)
    Review of Scientific Instruments 66 (1995), S. 2065-2068 
    Details
    ISSN: 1089-7623
    Source: AIP Digital Archive
    Topics: Physics , Electrical Engineering, Measurement and Control Technology
    Notes: A fixed-exit double-crystal x-ray monochromator has been constructed for use at the macromolecular crystallography beamline at the Sincrotrone Trieste. For its design a new concept has been developed, which is based on a single rotational stage to control the cursive-theta or Bragg angle for both the first and second crystal. The stage rotation axis lies in the center of the surface of the first crystal, thus the incoming photon beam remains centered on it over the whole tuning range, which opens the possibility to, e.g., optimize the crystal cooling system. The fixed-exit aspect of the monochromator is achieved by translating the second crystal on one slide only forming an angle α with the surface of this crystal. In this way the translation distance can be kept small thus minimizing detuning effects of the monochromator due to not-perfect slides. The cost is, that during energy scans the beam footprint will wander somewhat on the second crystal surface. It is demonstrated that, by choosing a suitable angle α, both the translation distance T and the length of the second crystal can be reasonably minimized. In fact, e.g., a monochromator having a vertical beam offset of 17 mm and an angular tuning range 5°–30°, T can be kept as small as 25 mm by not even doubling the length of the second crystal with respect to the first one. © 1995 American Institute of Physics.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1063/1.1145730
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  • 7
    Electronic Resource
    Electronic Resource
    The macromolecular crystallography beamline at ELETTRA : Proceedings of the 5th international conference on synchrotron radiation instrumentation (1995)
    [S.l.] : American Institute of Physics (AIP)
    Review of Scientific Instruments 66 (1995), S. 1661-1664 
    Details
    ISSN: 1089-7623
    Source: AIP Digital Archive
    Topics: Physics , Electrical Engineering, Measurement and Control Technology
    Notes: A new beamline for macromolecular crystallography has been constructed and is currently under commissioning. Its source is the high-power wiggler at the 2 GeV storage ring ELETTRA. The optics consists of a double-crystal monochromator in nondispersive configuration followed by a toroidal focusing mirror, and is designed to allow both diffraction experiments with monochromatized beam in the energy range 4–25 keV, and Laue experiments with white beam. The experimental station is based on an imaging plate area detector from MarResearch and a model 5020 Huber 4-circle diffractometer. To control the second apparatus, a plug-in board interface for a personal computer and a crystallographic package, CS, have been developed. © 1995 American Institute of Physics.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1063/1.1145875
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  • 8
    Electronic Resource
    Electronic Resource
    Plastique: A synchrotron radiation beamline for time resolved fluorescence in the frequency domain (1991)
    [S.l.] : American Institute of Physics (AIP)
    Review of Scientific Instruments 62 (1991), S. 1670-1671 
    Details
    ISSN: 1089-7623
    Source: AIP Digital Archive
    Topics: Physics , Electrical Engineering, Measurement and Control Technology
    Notes: PLASTIQUE is the only synchrotron radiation beamline in the world that performs time resolved fluorescence experiments in frequency domain. These experiments are extremely valuable sources of information on the structure and dynamics of molecules. We describe the beamline and some initial data.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1063/1.1142407
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  • 9
    Electronic Resource
    Electronic Resource
    A new scanning photoemission microscope for ELETTRA: SuperMAXIMUM : The 9th National conference on synchrotron radiation instrumentation (1996)
    [S.l.] : American Institute of Physics (AIP)
    Review of Scientific Instruments 67 (1996), S. 3358-3358 
    Details
    ISSN: 1089-7623
    Source: AIP Digital Archive
    Topics: Physics , Electrical Engineering, Measurement and Control Technology
    Notes: High brightness, third-generation synchrotrons allow diffraction-limited performance and large flux for scanning photoemission microscopes. A new microscope, SuperMAXIMUM, is being developed at the University of Wisconsin Center for X ray Lithography in collaboration with the Sincrotrone Trieste. The beamline, being built in Trieste, uses a variable angle spherical grating monochromator (VASGM). A combination of rotation of a plane mirror and rotation of the spherical grating keeps the slit positions and beam directions fixed. The microscope objectives are normal-incidence, multilayer-coated Schwarzschild objectives. The project, which is nearing completion, utilizes novel designs for optics alignment, sample rastering mechanics, and software control. We will discuss the project status, new designs, and techniques. © 1996 American Institute of Physics.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1063/1.1147500
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  • 10
    Electronic Resource
    Electronic Resource
    ESCA microscopy beamline at ELETTRA (1995)
    [S.l.] : American Institute of Physics (AIP)
    Review of Scientific Instruments 66 (1995), S. 4870-4875 
    Details
    ISSN: 1089-7623
    Source: AIP Digital Archive
    Topics: Physics , Electrical Engineering, Measurement and Control Technology
    Notes: The article describes the ESCA microscopy beamline dedicated to high spatial resolution quantitative and qualitative analysis on surfaces and interfaces. The scanning microscope is constructed to work both in transmission and photoemission within the photon energy range from 200 to 1200 eV with a spatial resolution of ∼0.1 μm. A Fresnel zone plate demagnifies the photon beam to submicrometer dimensions with 109–1010 photons/s in the focus spot. A photodiode and a hemispherical electron energy analyzer are used as detectors for recording the transmitted x-rays and emitted photoelectrons, respectively. The operation modes in photoemission give the opportunity to obtain conventional energy distribution curve spectra from a microspot or a two-dimensional micrograph of the spatial distribution and local concentration of a selected element as the sample is mechanically scanned. For conductive specimen topography measurements of a selected surface area probed by SPEM are possible using a scanning tunnelling microscope. The first test images of a zone plate and an e-beam written specimen with 1 μm2 Au squares on Si have shown a spatial resolution better than 0.2 μm. © 1995 American Institute of Physics.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1063/1.1146167
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