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- Castellani, Carlo, et al.
(author)
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Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
- 2008
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In: Journal of Cystic Fibrosis. - : Elsevier BV. - 1569-1993 .- 1873-5010. ; 7:3, s. 179-96
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Journal article (peer-reviewed)abstract
- It is often challenging for the clinician interested in cystic fibrosis (CF) to interpret molecular genetic results, and to integrate them in the diagnostic process. The limitations of genotyping technology, the choice of mutations to be tested, and the clinical context in which the test is administered can all influence how genetic information is interpreted. This paper describes the conclusions of a consensus conference to address the use and interpretation of CF mutation analysis in clinical settings. Although the diagnosis of CF is usually straightforward, care needs to be exercised in the use and interpretation of genetic tests: genotype information is not the final arbiter of a clinical diagnosis of CF or CF transmembrane conductance regulator (CFTR) protein related disorders. The diagnosis of these conditions is primarily based on the clinical presentation, and is supported by evaluation of CFTR function (sweat testing, nasal potential difference) and genetic analysis. None of these features are sufficient on their own to make a diagnosis of CF or CFTR-related disorders. Broad genotype/phenotype associations are useful in epidemiological studies, but CFTR genotype does not accurately predict individual outcome. The use of CFTR genotype for prediction of prognosis in people with CF at the time of their diagnosis is not recommended. The importance of communication between clinicians and medical genetic laboratories is emphasized. The results of testing and their implications should be reported in a manner understandable to the clinicians caring for CF patients.
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- Kozhevnikov, V., et al.
(author)
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Nonlocal effect and dimensions of Cooper pairs measured by low-energy muons and polarized neutrons in type-I superconductors
- 2013
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In: Physical Review B Condensed Matter. - : American Physical Society. - 0163-1829 .- 1095-3795. ; 87:10, s. 104508-
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Journal article (peer-reviewed)abstract
- The Pippard coherence length xi(0) (the size of a Cooper pair) in two extreme type-I superconductors (In and Sn) was determined directly through high-resolution measurement of the nonlocal electrodynamic effect combining low-energy muon spin rotation spectroscopy and polarized neutron reflectometry. The renormalization factor Z = m*(cp)/2m (m*(cp) and m are the mass of the Cooper pair and the electron, respectively) resulting from the electron-phonon interaction, and the temperature-dependent London penetration depth lambda(L)(T) were determined as well. An expression linking xi(0), Z, and lambda(L)(0) is introduced and experimentally verified. This expression allows one to determine experimentally the Pippard coherence length in any superconductor, independent of whether the superconductor is local or nonlocal, conventional or unconventional.
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- Motta, M., et al.
(author)
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Controllable morphology of flux avalanches in microstructured superconductors
- 2014
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In: Physical Review B - Condensed Matter and Materials Physics. - 2469-9950 .- 2469-9969. ; 89:13
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Journal article (peer-reviewed)abstract
- The morphology of abrupt bursts of magnetic flux into superconducting films with engineered periodic pinning centers (antidots) has been investigated. Guided flux avalanches of thermomagnetic origin develop a treelike structure, with the main trunk perpendicular to the borders of the sample, while secondary branches follow well-defined directions determined by the geometrical details of the underlying periodic pinning landscape. Strikingly, we demonstrate that in a superconductor with relatively weak random pinning the morphology of such flux avalanches can be fully controlled by proper combinations of lattice symmetry and antidot geometry. Moreover, the resulting flux patterns can be reproduced, to the finest details, by simulations based on a phenomenological thermomagnetic model. In turn, this model can be used to predict such complex structures and to estimate physical variables of more difficult experimental access, such as the local values of temperature and electric field.
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- Motta, M., et al.
(author)
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Enhanced pinning in superconducting thin films with graded pinning landscapes
- 2013
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In: Applied Physics Letters. - : AIP Publishing. - 0003-6951 .- 1077-3118. ; 102:21
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Journal article (peer-reviewed)abstract
- A graded distribution of antidots in superconducting a-Mo79Ge21 thin films has been investigated by magnetization and magneto-optical imaging measurements. The pinning landscape has maximum density at the sample border, decreasing linearly towards the center. Its overall performance is noticeably superior than that for a sample with uniformly distributed antidots: For high temperatures and low fields, the critical current is enhanced, whereas the region of thermomagnetic instabilities in the field-temperature diagram is significantly suppressed. These findings confirm the relevance of graded landscapes on the enhancement of pinning efficiency, as recently predicted by Misko and Nori.
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