Publications by authors named "Enric Domenech"

The calibration of correlation radiometers, and particularly aperture synthesis interferometric radiometers, is a critical issue to ensure their performance. Current calibration techniques are based on the measurement of the cross-correlation of receivers' outputs when injecting noise from a common noise source requiring a very stable distribution network. For large interferometric radiometers this centralized noise injection approach is very complex from the point of view of mass, volume and phase/amplitude equalization.

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Wolfram syndrome (WS, OMIM 22233), is a rare, autosomal recessive, and neurodegenerative disease. The syndrome is also known as DIDMOAD, the acronym for diabetes insipidus diabetes mellitus, optic atrophy and deafness, which summarizes the main clinical features, among many others, in WS patients. The gene associated with the syndrome, called WFS1, is located in the 4p16.

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Mutations in mtDNA have been implicated in the development of hypertrophic cardiomyopathy (HCM), including cases from families with a maternal transmission. Alleles at several polymorphic sites in mtDNA define different haplogroups and some of these haplogroups have been involved in the risk of developing several diseases in which mitochondria should be involved. We analysed the association between the nine common European haplogroups and HCM.

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Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by early onset diabetes mellitus and progressive optic atrophy in the first decade of life. Other clinical features such as diabetes insipidus, deafness, renal tract abnormalities or psychiatric illnesses are often present. The sequence of the Wolfram syndrome gene (WFS1) was described in 1998, and mutations in the gene have been reported in many populations.

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Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterised by early onset diabetes mellitus and progressive optic atrophy, as well as other clinical features such as deafness, diabetes insipida, renal tract abnormalities and diverse psychiatric illnesses. A gene responsible for WS was identified in 4p16.1 (WFS1).

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