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  • 1
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    Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene (2009)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2009-03-07
    Description: Through complete sequencing of the protein-coding genes in a patient with familial pancreatic cancer, we identified a germline, truncating mutation in PALB2 that appeared responsible for this patient's predisposition to the disease. Analysis of 96 additional patients with familial pancreatic cancer revealed three distinct protein-truncating mutations, thereby validating the role of PALB2 as a susceptibility gene for pancreatic cancer. PALB2 mutations have been previously reported in patients with familial breast cancer, and the PALB2 protein is a binding partner for BRCA2. These results illustrate that complete, unbiased sequencing of protein-coding genes can lead to the identification of a gene responsible for a hereditary disease.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2684332/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2684332/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Jones, Sian -- Hruban, Ralph H -- Kamiyama, Mihoko -- Borges, Michael -- Zhang, Xiaosong -- Parsons, D Williams -- Lin, Jimmy Cheng-Ho -- Palmisano, Emily -- Brune, Kieran -- Jaffee, Elizabeth M -- Iacobuzio-Donahue, Christine A -- Maitra, Anirban -- Parmigiani, Giovanni -- Kern, Scott E -- Velculescu, Victor E -- Kinzler, Kenneth W -- Vogelstein, Bert -- Eshleman, James R -- Goggins, Michael -- Klein, Alison P -- CA123483/CA/NCI NIH HHS/ -- CA62924/CA/NCI NIH HHS/ -- P50 CA062924/CA/NCI NIH HHS/ -- P50 CA062924-150011/CA/NCI NIH HHS/ -- P50 CA062924-150012/CA/NCI NIH HHS/ -- R01 CA097075/CA/NCI NIH HHS/ -- R01 CA097075-06A1/CA/NCI NIH HHS/ -- R01 CA121113/CA/NCI NIH HHS/ -- R01 CA121113-04/CA/NCI NIH HHS/ -- R01 CA123483/CA/NCI NIH HHS/ -- R01 CA123483-01A2/CA/NCI NIH HHS/ -- R01CA97075/CA/NCI NIH HHS/ -- R37 CA043460/CA/NCI NIH HHS/ -- R37 CA043460-26/CA/NCI NIH HHS/ -- R37 CA057345/CA/NCI NIH HHS/ -- R37 CA057345-17/CA/NCI NIH HHS/ -- New York, N.Y. -- Science. 2009 Apr 10;324(5924):217. doi: 10.1126/science.1171202. Epub 2009 Mar 5.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Ludwig Center for Cancer Genetics and Therapeutics and Howard Hughes Medical Institute, Baltimore, MD 21231, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/19264984" target="_blank"〉PubMed〈/a〉
    Keywords: Breast Neoplasms/genetics ; Codon, Terminator ; Female ; *Genetic Predisposition to Disease ; *Germ-Line Mutation ; Humans ; Male ; Nuclear Proteins/*genetics ; Pancreatic Neoplasms/*genetics ; Pedigree ; Sequence Analysis, DNA ; Sequence Deletion ; Tumor Suppressor Proteins/*genetics
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 2
    Electronic Resource
    Electronic Resource
    Analysis of radar and raingauge measurements for a critical meteorological event in Tuscany (1995)
    Springer
    Surveys in geophysics 16 (1995), S. 253-264 
    Details
    ISSN: 1573-0956
    Keywords: Meteorology ; Radar ; Raingauge
    Source: Springer Online Journal Archives 1860-2000
    Topics: Geosciences , Physics
    Notes: Abstract In this paper, some considerations are given to the employment of C-band polarimetric weather radars for rainfall estimates. The most common error sources are discussed, such as ground clutter and propagation attenuation effects, together with decorrelation in the sampling at the ground between radar and raingauge measurements, which can be quite significant in radar systems located in hilly regions, as is the case of the Arno basin in Tuscany. Since the main objective from a hydrological point of view is the estimate of rainfall at ground, integrations and comparisons are needed between radar and raingauge data, which are characterized by different time and space sampling. The paper is then focussed mainly on this problem and a technique is presented in order to improve radar based rainfall estimates through the integration with raingauge data, in order to enhance the correlation between the two types of measurements. Such a method is finally applied to a serious meteorological event which affected the Arno basin on October 1992.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00665782
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Hydrological control of flooding: Tuscany, October 1992 (1995)
    Springer
    Surveys in geophysics 16 (1995), S. 227-252 
    Details
    ISSN: 1573-0956
    Keywords: Flash-flood ; Rainfall-runoff modelling ; Multi-sensor approach
    Source: Springer Online Journal Archives 1860-2000
    Topics: Geosciences , Physics
    Notes: Abstract In the study of flash-flood occurrence in small catchments the lack of flow measurements is often one of the main limiting factors. Prior to estimating the forecasting potentialities and techniques for such events, an accurate reconstruction of past event flood dynamics is first required. This issue is here addressed by analyzing, with the use of a distributed hydrological model, the hydrometeorological conditions in which a severe flash-flood occurred, on October 1992, on a 48 square kilometers catchment in the Arno basin. Such an event was caused by the persistence of intense convective clusters on the background of widespread rain bands of frontal origin. The distributed hydrological model here adopted is devoted to simulate the evolution and the variability of the primary processes involved in the runoff cycle. Together with the hydrological model structure, other particular aspects of the event reconstruction procedure are discussed: the managing and processing of the information coming from different sensors, with different temporal and spatial resolutions; the identification of local precipitation dynamics (frontal or convective) within small areas of integrated radar and rain gauges data fields; the interpolation of rain gauge data on the basis of the radar-estimated spatial correlation. The results of the distributed modeling, concerning the estimate of the flood wave at various sites, are compared with analogous results obtained with simpler lumped models.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00665781
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  • 4
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    Hydrological control of flooding: Tuscany, October 1992 (1995)
    Springer
    Details
    Publication Date: 1995-03-01
    Print ISSN: 0169-3298
    Electronic ISSN: 1573-0956
    Topics: Geosciences , Physics
    Published by Springer
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  • 5
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    Analysis of radar and raingauge measurements for a critical meteorological event in Tuscany (1995)
    Springer
    Details
    Publication Date: 1995-03-01
    Print ISSN: 0169-3298
    Electronic ISSN: 1573-0956
    Topics: Geosciences , Physics
    Published by Springer
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  • 6
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    An advanced method for sea water chemical treatment in MSFD plants (1979)
    Elsevier
    Details
    Publication Date: 1979-10-01
    Print ISSN: 0011-9164
    Electronic ISSN: 1873-4464
    Topics: Energy, Environment Protection, Nuclear Power Engineering , Process Engineering, Biotechnology, Nutrition Technology
    Published by Elsevier
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