1,721,037 research outputs found
Le sordità da causa genetica
No full textNella diagnosi di sordità la genetica riveste una posizione molto importante. Più del 50% delle sordità sono di origine genetica. Dopo una premessa storica viene illustrata la funzione del DNA e le conseguenze delle sue mutazioni. Vengono analizzate le più rilevanti sindromi genetiche correlate alla sordità e l'iter diagnostico effettuato dal genetista clinico
Fire string model for the large transverse momentum production of lepton pairs in proton-proton collisions
No full textIdentificazione di una nuova mutazione X-linked : il ruolo della next generation sequencing nella ricerca dei geni della sordità
No full textNuove strade si aprono per la ricerca dei geni della sordità con la next generation sequencing: identificazione di una nuova mutazione X-linked
Genotype-phenotype correlation in two sets of monozygotic twins with Williams syndrome
No full textWe report on two sets of monozygotic (MZ) twins with Williams syndrome (WS), following the 6 pairs already reported in the literature. We have confirmed monozygosity of both pairs of twins by DNA microsatellite analysis and the clinical diagnosis by fluorescence in situ hybridization using a WS- specific probe. Analysis of the concordance of different clinical signs between members of each pair of twins benefitted from a lengthy clinical follow-up, from 24 months to 7 years in one pair, and from the age of 15 years with reevaluation after 2 years in the other pair. Most clinical signs were concordant in the twins of each pair, with differences present at younger ages, mainly minor facial anomalies, being attenuated with time. Developmental delay was substantially concordant, but the degree differed slightly between twins in each pair. Inguinal hernia was present in a single twin in pair 1. Facial anomalies and other signs attributable to connective tissue abnormalities were also displayed by only one twin in both sets, suggesting that the WS genotype has only a predisposing role in the development of these signs
Reproductive follow-up of carriers of familial reciprocal balanced translocations involving chromosome 9 and comparison with predicted outcome
No full textXylem parenchyma transfer cells were observed in the primary and secondary vascular tissue of stem internodes of 21 in 28 species of grain legumes. Their structural features were similar to those of other transfer cells. The relationships of these cells to transfer cells at nodes were investigated. Non-nodulated seedlings of Phaseolus vulgaris L. formed internode transfer cells if provided mineral nutrients through their roots, but not if grown in distilled water or fed nutrients entirely through their leaves. Wall ingrowths formed in parenchyma of primary xylem of Phaseolus just before full extension of an internode. The significance of this new location for transfer cells was discussed. © 1980 Springer-Verlag
Problematiche diagnostiche ed etiche correlate alle indagini genetiche nei pazienti con sordità e nei loro familiari
No full text
Quel silenzio sostenuto da cento geni
No full textI difetti ereditari alla base della sordità rappresentano un insieme ampio ed eterogeneo. Per riconoscere quello più comune è stato allestito un test del DNA che specifica il rischio di avere un figlio affetto nella propria progenie
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
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