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  • 1
    Publication Date: 2020-10-02
    Language: English
    Type: article , doc-type:article
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  • 2
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The testis-determining gene SRY (sex determining region, Y) is located on the short arm of the Y chromosome and consists of a single exon, the central third of which is predicted to encode a conserved motif with DNA binding/bending properties. We describe the screening of 26 patients who presented with 46,XY partial or complete gonadal dysgenesis for mutations in both the SRY open reading frame (ORF) and in 3.8 kb of Y-specific flanking sequences. DNA samples were screened by using the fluorescence-assisted mismatch analysis (FAMA) method. In two patients, de novo mutations causing complete gonadal dysgenesis were detected in the SRY ORF. One was a nonsense mutation 5′ to the HMG box, whereas the other was a missense substitution located at the C terminus of the conserved motif and identical to one previously detected in an unrelated patient. In addition, two Y-specific polymorphisms were found 5′ to the SRY gene, and a sequence variant was identified 3′ to the SRY polyadenylation site. No duplications of the DSS region in 20 of these patients were detected.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Il nuovo cimento della Società Italiana di Fisica 10 (1988), S. 115-118 
    ISSN: 0392-6737
    Source: Springer Online Journal Archives 1860-2000
    Topics: Physics
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Il nuovo cimento della Società Italiana di Fisica 11 (1989), S. 1863-1863 
    ISSN: 0392-6737
    Keywords: Statistical theories of liquid structure ; Errata
    Source: Springer Online Journal Archives 1860-2000
    Topics: Physics
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Il nuovo cimento della Società Italiana di Fisica 17 (1995), S. 1165-1179 
    ISSN: 0392-6737
    Keywords: Collective effects
    Source: Springer Online Journal Archives 1860-2000
    Topics: Physics
    Notes: Summary The interacting reference response functionX I [3](k) of three-dimensional jellium ink space was defined by Niklasson in terms of the momentum distribution of the interacting electron assembly. Here the Fourier transformF I [d](r) ofX I [d] (k) is studied for the jellium model withe 2/r interactions in dimensionalityd=1,2 and 3, in an extension of recent work by Holas, March and Tosi for the cased=3. The small-r and large-r forms ofF I [d] (r) are explicitly evaluated from the analytic behaviour of the momentum distributionn d(p). In the appendix, a model ofn d (p) is constructed which interpolates between these limits.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Il nuovo cimento della Società Italiana di Fisica 17 (1995), S. 155-167 
    ISSN: 0392-6737
    Keywords: Statistical theories of liquid structure
    Source: Springer Online Journal Archives 1860-2000
    Topics: Physics
    Notes: Summary The asymptotic behaviours of particle correlation functions and the related sum rules are discussed for a layered classical plasma withe 2/r interactions in the fluid state, in dependence on the number of layers. These properties derive from consistency conditions imposed by screening on the hierarchical equations, as already treated by A. Alastuey and P. A. Martin (J. Stat. Phys.,39, 405 (1985)) for various Coulomb fluids. The main results concern i) the type of clustering of correlations needed for the validity of multipolar sum rules at various orders, ii) the proof that the pair correlation function in a finite multilayer may carry an electric dipole moment and the calculation of its partioning among the layers, and iii) the dimensionality crossover in an infinitely extended or periodically repeated multiplayer with varying interlayer spacing and wave vector.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Il nuovo cimento della Società Italiana di Fisica 1 (1982), S. 409-421 
    ISSN: 0392-6737
    Source: Springer Online Journal Archives 1860-2000
    Topics: Physics
    Description / Table of Contents: Riassunto Questo lavoro analizza dati sperimentali di diffrazione neutronica da soluzioni liquide K−KCl e Rb−RbBr a varie composizioni. Mentre la diffusione a piccoli angoli (per numeri d'onda trasferiti inferiori a circa 1 Å−1) è fortemente influenzata da effetti di schermo e di aggregazione associati agli elettroni esterni della componente metallica, l'ordine a corto raggio in questi sistemi è ben riprodotto da un modello che li considera come miscele ioniche. La struttura del sistema K−KCl ad alte concentrazioni della componente metallica è ulteriormente studiata in dettaglio da punti di vista diversi. Si mostra cosí che il sistema in questa regione di composizione può anche essere visto come un metallo espanso di cui gli ioni alogeno riducono fortemente l'ordine a corto raggio. Si discutono infine alcuni aspetti dell'ordine a corto raggio nella regione di alte concentrazioni della componente salina, associati con uno struttura secondaria nella figura di diffrazione.
    Abstract: Резюме Исследуются результаты дифракции нейтронов на жидких растворах K−KCl и Rb−RbBr при различных составах. Исследование проводится в рамках модели ионной смеси, в которой пренебрегается экранированием и агрегацией, обусловленными металлическими электронами. Эта модель объясняет главные особенности наблюденных картин дифракции для волновых чиселk порядка 1 Å−1. С разных точек зрения анализируется фазовая диаграмма в системе K−KCl. Описываются короткодействующие корреляции для ионов калия в указанной области, используя металлический радиус, выведенный из свойств чистогожидкого металла, но простая металлическая модель должна быть дополнена предположением, что существенный беспорядок вводится в структуру металла ионами галогенов. Интерпретируются особенности короткодействующего упорядочения в области с высоким содержанием соли, которые связаны с выступом у главного пика со стороны большихk на диаграмме дифракции.
    Notes: Summary Neutron diffraction patterns from K−KCl and Rb−RbBr liquid solutions at various compositions are examined in a ionic-mixture model which neglects screening and aggregation due to the metallic electrons. The main features of the observed diffraction patterns for wave numberk roughly above 1 Å−1 are accounted for by the model. The approach to the metal-rich end of the phase diagram is analysed in detail from different viewpoints in the K−KCl system. Short-range correlations of the potassium ions are described in this region by a metallic radius deduced from properties of the pure liquid metal, but a simple expanded-metal model must be supplemented by the assumption that considerable disorder is introduced in its structure by the halogen ions. Features of short-range ordering in the salt-rich region that are implied by a shoulder on the high-k side of the main peak in the diffraction pattern are also commented upon.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    Il nuovo cimento della Società Italiana di Fisica 11 (1989), S. 1509-1514 
    ISSN: 0392-6737
    Keywords: Statistical theories of liquid structure
    Source: Springer Online Journal Archives 1860-2000
    Topics: Physics
    Notes: Summary It is shown that long-wavelength concentration fluctuations in a binary liquid metal alloy are determined by a pair interchange free energyw, which is exactly given by the sum of an elastic strain term and of the concentration-concentration direct correlation function. The latter is evaluated in an alloy of homovalent components by electron screening theory in the pseudopotential approach of Shaw and Harrison and shown to be entirely determined by nonlocal terms reflecting charge transfer to the more electronegative alloy component. Numerical calculations for the liquid Na−K alloy show strong cancellation between the two contributions tow at all concentrations, in qualitative agreement with experiment.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Il nuovo cimento della Società Italiana di Fisica 15 (1993), S. 393-398 
    ISSN: 0392-6737
    Keywords: Statistical theories of liquid structure
    Source: Springer Online Journal Archives 1860-2000
    Topics: Physics
    Notes: Summary The correlations between long-wavelength fluctuations of concentration in a liquid binary alloy are determined by a balance between an elastic-strain free energy and an Ornstein-Zernike effective interaction. The latter is extracted from thermodynamic data in the case of the Li−Pb system, which is well known to chemically order with stoichiometric composition corresponding to Li4Pb. Strong attractive interactions between concentration fluctuations near the composition of chemical ordering originate from electronic charge transfer, which is estimated from the electron-ion partial structure factors as functions of composition in the liquid alloy.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    Il nuovo cimento della Società Italiana di Fisica 18 (1996), S. 1357-1362 
    ISSN: 0392-6737
    Keywords: Boson systems ; General studies of phase transitions
    Source: Springer Online Journal Archives 1860-2000
    Topics: Physics
    Notes: Summary Accurate analytic results are obtained for the condensate fraction and the internal energy of mesoscopic systems of non-interacting Bose particles confined in an axially symmetric harmonic trap. Earlier results for a spherical trap are recovered and numerical illustrations for an experimentally relevant case are given.
    Type of Medium: Electronic Resource
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