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Journals and Conferences
Maternal uniparental disomy of chromosome 14 (upd(14)mat) is responsible for a Prader-Willi-like syndrome with precocious puberty. Although upd(14) is often hypothesized to result from trisomy rescue mechanism, T14 cell lines are usually not found with postnatal cytogenetic investigations. We report the coexistence of both chromosomal abnormalities in a… (More)
Interstitial deletions of the long arm of chromosome 3 are rare and detailed genotype-phenotype correlations are not well established. We report on the clinical, cytogenetic and molecular findings of a 5-year-old patient with a de novo interstitial deletion from 3q25.1 to 3q25.32. Clinical features include relative microcephaly, developmental delay and… (More)
Characterizing biophysical changes in land change areas over large regions with short and noisy multivariate time series and multiple temporal parameters remains a challenging task. Most studies focus on detection rather than the characterization, i.e., the manner by which surface state variables are altered by the process of changes. In this study, a… (More)
Lipophilic prodrugs of 3'-azido-3'-deoxythymidine (AZT) and of 2',3'-didehydro-3'-deoxythymidine (D4T) have been synthesized. 3 beta-(2'-carboxymethoxy)-cholest-5-ene acid, palmitic acid, linolenic acid, linoleic acid, and cholanic acid have been covalently bound to AZT and D4T. In some experiments the fluorescent molecule NBD was simultaneously linked.… (More)
Glutathione trisulfide was synthesized from glutathione disulfide and its reduction by glutathione reductase was studied. A two-step reaction was observed. In a first step, the rate of reduction was similar to that observed with glutathione disulfide. In addition to glutathione, a persulfide intermediate was detected by an electrochemical method and was… (More)
The relative operating characteristic (ROC) is a widely-used method to measure diagnostic signals including predictions of land changes, species distributions, and ecological niches. The ROC measures the degree to which presence for a Boolean variable is associated with high ranks of an index. The ROC curve plots the rate of true positives versus the rate… (More)
Hemophagocytosis is defined by a systemic macrophages activation, phagocyting the blood elements. This syndrome can be primary or secondary to multiple causes such as neoplasia or infections. We report here the first case of a hemophagocytosis caused by an Escherichia coli infection of ascitis fluid.
The monitoring and prediction of biodiversity and environmental changes is constrained by the availability of accurate and spatially contiguous climatic variables at fine temporal and spatial grains. In this study, we evaluate best practices for generating gridded, one-kilometer resolution, daily maximum air temperature surfaces in a regional context, the… (More)
We present a case of de novo trisomy of distal 19q diagnosed prenatally by cytogenetics and FISH analysis. The autopsy performed after termination of the pregnancy showed major internal and external malformations that are associated with this chromosome abnormality.
In the 1970s, de Laine developed a root-matching procedure for estimating unit hydrograph ordinates from estimates of the fast component of the total runoff from multiple storms. Later, Turner produced a root selection method which required only data from one storm event and was based on recognising a pattern typical of unit hydrograph roots. Both methods… (More)