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511 results on '"Danieli, G."'

103. Central nervous system involvement in systemic lupus erythematosus patients without overt neuropsychiatric manifestations

Author

Sabbadini, M G, primary, Manfredi, A A, additional, Bozzolo, E, additional, Ferrario, L, additional, Rugarli, C, additional, Scorza, R, additional, Origgi, L, additional, Vanoli, M, additional, Gambini, O, additional, Vanzulli, L, additional, Croce, D, additional, Campana, A, additional, Messa, C, additional, Fazio, F, additional, Tincani, A, additional, Anzola, G, additional, Cattaneo, R, additional, Padovani, A, additional, Gasparotti, R, additional, Gerli, R, additional, Quartesan, R, additional, Piccirilli, M, additional, Farsi, A, additional, Emmi, E, additional, Domeneghetti, M, additional, Piccini, C, additional, Massacesi, L, additional, Pupi, A, additional, De Cristoforis, M, additional, Danieli, M, additional, Candela, M, additional, Fraticelli, P, additional, Bartolini, M, additional, Salvolini, U, additional, Danieli, G, additional, and Passaleva, A, additional

Published
1999
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104. Effectiveness of Iloprost in the Treatment of Cutaneous of and Pulmonary Fibrosis: A Randomised Multicentric Study in Patients with Systemic Sclerosis (SSc)

Author

Scorza, R., primary, Mascagni, B., additional, Gabrielli, A., additional, Candela, M., additional, Danieli, G., additional, Salsano, F., additional, Pisarri, S., additional, Farina, G., additional, Gerli, R., additional, Dammacco, F., additional, Bazzi, S., additional, and Berruti, V., additional

Published
1996
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124. Duchenne muscular dystrophy.

Author

Danieli, G. and Barbujani, G.

Abstract

A segregation analysis on 135 Duchenne families from Venetia (Italy) suggests that the proportion of sporadic cases might be less than expected. Support for this view is also given by an analysis of a pooled sample including 284 additional sibships from comparable studies published previously. Several hypotheses were tested: the maximum likelihood was obtained for a segregation frequency p=0.46 and for a proportion of sporadic cases x=0.227±0.048. [ABSTRACT FROM AUTHOR]

Published
1984
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125. Duchenne muscular dystrophy.

Author

Danieli, G., Mostacciuolo, M., Pilotto, G., Angelini, C., and Bonfante, A.

Abstract

In an extensive epidemiological survey of Duchenne muscular dystrophy carried out in Venetia (Italy) the incidence was found to be 28.2×10 and female gamete mutation rate was estimated by the direct method between 61 and 35×10. The percentage of isolated cases was 0.54. Indirect and direct estimates of this proportion suggest, however, that only a minor fraction arises from maternal mutation (from 0.11 to 0.18 of the total number of cases). Studies on pedigrees collected in the course of the survey indicate that there is a higher frequency of Duchenne carrier females than normal females in affected sibships. Additional evidence supporting the hypothesis of a reproductive heterozygote advantage and gametic selection is reported. [ABSTRACT FROM AUTHOR]

Published
1980
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126. Duchenne muscular dystrophy.

Author

Danieli, G., Mostacciuolo, M., Bonfante, A., and Angelini, C.

Abstract

By a general survey in the hospitals of northeast Italy, Duchenne cases have been located and identified over a 20-year period. In a more restricted area screening for Duchenne carriers has been carried out in affected families. This procedure made possible an exact estimate of the incidence rate, prevalence rate, and mutation rate in a large sample of population. Prevalence rate was found to be 34x10, incidence rate about 28x10, while mutation rate was found lower than 50x10 by the direct method. The discrepancy between the results obtained by the Haldane formula and those obtained by the direct method for the estimate of the mutation rate is discussed. [ABSTRACT FROM AUTHOR]

Published
1977
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127. The human adult skeletal muscle transcriptional profile reconstructed by a novel computational approach.

Author

Bortoluzzi, S, d'Alessi, F, Romualdi, C, and Danieli, G A

Abstract

By applying a novel software tool, information on 4080 UniGene clusters was retrieved from three adult human skeletal muscle cDNA libraries, which were selected for being neither normalized nor subtracted. Reconstruction of a transcriptional profile of the corresponding tissue was attempted by a computational approach, classifying each transcript according to its level of expression. About 25% of the transcripts accounted for about 80% of the detected transcriptional activity, whereas most genes showed a low level of expression. This in silico transcriptional profile was then compared with data obtained by a SAGE study. A fairly good agreement between the two methods was observed. About 400 genes, highly expressed in skeletal muscle or putatively skeletal muscle-specific, may represent the minimal set of genes needed to determine the tissue specificity. These genes could be used as a convenient reference to monitor major changes in the transcriptional profile of adult human skeletal muscle in response to different physiological or pathological conditions, thus providing a framework for designing DNA microarrays and initiating biological studies.

Published
2000

131. A comprehensive, high-resolution genomic transcript map of human skeletal muscle.

Author

Bortoluzzi, S, Rampoldi, L, Simionati, B, Zimbello, R, Barbon, A, d'Alessi, F, Tiso, N, Pallavicini, A, Toppo, S, Cannata, N, Valle, G, Lanfranchi, G, and Danieli, G A

Abstract

We present the Human Muscle Gene Map (HMGM), the first comprehensive and updated high-resolution expression map of human skeletal muscle. The 1078 entries of the map were obtained by merging data retrieved from UniGene with the RH mapping information on 46 novel muscle transcripts, which showed no similarity to any known sequence. In the map, distances are expressed in megabase pairs. About one-quarter of the map entries represents putative novel genes. Genes known to be specifically expressed in muscle account for <4% of the total. The genomic distribution of the map entries confirmed the previous finding that muscle genes are selectively concentrated in chromosomes 17, 19, and X. Five chromosomal regions are suspected to have a significant excess of muscle genes. Present data support the hypothesis that the biochemical and functional properties of differentiated muscle cells may result from the transcription of a very limited number of muscle-specific genes along with the activity of a large number of genes, shared with other tissues, but showing different levels of expression in muscle. [The sequence data described in this paper have been submitted to the EMBL data library under accession nos. F23198-F23242.]

Published
1998
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142. Gene symbol: RYR2. Disease: Arrhythmogenic right ventricular cardiomyopathy type 2

Author

Natascia Tiso, Bauce, B., Rampazzo, A., Bagattin, A., Nava, A., and Danieli, G. A.

Subjects
Arrhythmogenic Right Ventricular Dysplasia/genetics, Amino Acid Substitution, RYR2, Genetic mutations, cardiomyopathy, Humans, Point Mutation, Ryanodine Receptor Calcium Release Channel, Codon, Arrhythmogenic Right Ventricular Dysplasia

150. Variations of nucleic acid content in the salivary glands of Drosophila hydei during late larval development.

Author

Danieli, G. and Rodinò, E.

Abstract

Copyright of Experientia is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
1968
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