| 1. |
- Thompson, B.A., et al.
(author)
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Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
- 2014
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 46:2, s. 107-115
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Journal article (peer-reviewed)abstract
- The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants that were not obviously protein truncating from nomenclature. This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases. © 2014 Nature America, Inc.
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| 2. |
- Rosales, B.M., et al.
(author)
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Atmospheric corrosion
- 2012
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In: International Journal of Corrosion. - : Hindawi Limited. - 1687-9325 .- 1687-9333. ; 2012
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Journal article (peer-reviewed)
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| 3. |
- Sen, Partha, et al.
(author)
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Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain
- 2013
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In: Human Mutation. - : Hindawi Limited. - 1059-7794. ; 34:6, s. 801-811
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Journal article (peer-reviewed)abstract
- Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung defined by a constellation of characteristic histopathological features. Nonpulmonary anomalies involving organs of gastrointestinal, cardiovascular, and genitourinary systems have been identified in approximately 80% of patients with ACD/MPV. We have collected DNA and pathological samples from more than 90 infants with ACD/MPV and their family members. Since the publication of our initial report of four point mutations and 10 deletions, we have identified an additional 38 novel nonsynonymous mutations of FOXF1 (nine nonsense, seven frameshift, one inframe deletion, 20 missense, and one no stop). This report represents an up to date list of all known FOXF1 mutations to the best of our knowledge. Majority of the cases are sporadic. We report four familial cases of which three show maternal inheritance, consistent with paternal imprinting of the gene. Twenty five mutations (60%) are located within the putative DNA-binding domain, indicating its plausible role in FOXF1 function. Five mutations map to the second exon. We identified two additional genic and eight genomic deletions upstream to FOXF1. These results corroborate and extend our previous observations and further establish involvement of FOXF1 in ACD/MPV and lung organogenesis.
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| 4. |
- Ananías, Rubén A., et al.
(author)
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Testing New In-Kiln Meter for Monitoring Lumber Moisture Content during Drying
- 2013
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In: Drying Technology. - : Informa UK Limited. - 0737-3937 .- 1532-2300. ; 31:3, s. 277-281
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Journal article (peer-reviewed)abstract
- The objective of this study was to test a new in-kiln sensor for monitoring lumber moisture content during industrial drying. The theoretical foundation of the technology was already known, because it is based on electrical conductivity, but the mechanism of implementation was new and required validation. For this reason, the technology was compared with two other widely used methods for assessing lumber moisture content, namely, the oven-drying and electrical capacitance methods. The tests were performed in a 120-m3 industrial kiln operated by a sawmill in the eighth region of Chile, and the results showed that the average moisture content at the end of drying was satisfactorily determined by the new in-line sensor. As predicted by theory, the sensor was not able to accurately measure moisture content above 25%, but it was still able to provide the equivalent of a drying curve for monitoring of the drying process
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| 5. |
- Ruiz-Camacho, B., et al.
(author)
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Electrochemical and XAS investigation of oxygen reduction reaction on Pt-TiO2-C catalysts
- 2013
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In: International Journal of Hydrogen Energy. - : Elsevier BV. - 1879-3487 .- 0360-3199. ; 38:28, s. 12648-12656
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Journal article (peer-reviewed)abstract
- Pt-TiO2-C composites with different titanium oxide loading were synthesized by photo-deposition and chemical vapor deposition methods. The changes in their electronic properties improve the electrochemical activity toward the oxygen reduction reaction (ORR) compared to the Pt-C catalyst synthesized at the same conditions. The platinum samples were physically characterized by means of Transmission Electron Microscopy (TEM), Small Angle X-ray Scattering (SAXS), X-ray Absorption Spectroscopy (XAS) and X-ray Photo-electron Spectroscopy (XPS). Their electrochemical activity was also investigated by cyclic and linear voltammetry techniques. TEM analysis shows homogeneously dispersed platinum nanoparticles with an average particle size of 2 nm in all the synthesized samples. Form factor (morphology model) and particle size were determined by SAXS, the data adjusted to spherical Pt nanoparticles in both synthesis methods. XAS studies at the Pt L-3-edge shows a close interaction of Pt with the support material, i.e. C or TiO2. XPS analysis reveals surface modifications that induce electronic changes on Pt-TiO2-C. Significant differences in the ORR electrochemical activity were correlated to the TiO2 loading and the synthesis procedure. Copyright (C) 2013, Hydrogen Energy Publications, LLC. Published by Elsevier Ltd. All rights reserved.
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| 6. |
- Sanchez-Heredia, Juan D., et al.
(author)
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Sample-Selection Method for Arbitrary Fading Emulation Using Mode-Stirred Chambers
- 2010
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In: IEEE Antennas and Wireless Propagation Letters. - 1536-1225 .- 1548-5757. ; 9, s. 409-412
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Journal article (peer-reviewed)abstract
- Mode-stirred chambers (MSCs) consist of one or more resonant cavities coupled in some way in order to allow the measurement of different antenna parameters such as antenna efficiency, correlation, diversity gain, or multiple-input-multiple-output (MIMO) capacity, among others. In a single-cavity MSC, also known as a reverberation chamber (RC), the environment is isotropic and the amplitude of the signal is Rayleigh distributed. Real environments, however, rarely follow an isotropic Rayleigh-fading scenario. Previous results have shown that a Rician-fading emulation can be obtained via hardware modification using an RC. The different methods lack from an accurate emulation performance and are strongly dependent upon chamber size and antenna configurations. With the innate complexity of more-than-one-cavity MSC, the coupling structure generates sample sets that are complex enough so as to contain different clusters with diverse fading characteristics. This letter presents a novel method to accurately emulate a more realistic Rician-fading distribution from a Rayleigh-fading distribution by selecting parts of the sample set that forms different statistical ensembles using a complex two-cavity multi-iris-coupled MSC. Sample selection is performed using a genetic algorithm. Results demonstrate the potential of MSCs for versatile MIMO fading emulation and over-the-air (OTA) testing. The method is patent protected by EMITE Ing., Murcia, Spain.
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| 7. |
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