85 research outputs found

    Delineation of Cohen Syndrome Following a Large-Scale Genotype-Phenotype Screen

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    Cohen syndrome is an autosomal recessive condition associated with developmental delay, facial dysmorphism, pigmentary retinopathy, and neutropenia. The pleiotropic phenotype, combined with insufficient clinical data, often leads to an erroneous diagnosis and has led to confusion in the literature. Here, we report the results of a comprehensive genotype-phenotype study on the largest cohort of patients with Cohen syndrome assembled to date. We found 22 different COH1 mutations, of which 19 are novel, in probands identified by our diagnostic criteria. In addition, we identified another three novel mutations in patients with incomplete clinical data. By contrast, no COH1 mutations were found in patients with a provisional diagnosis of Cohen syndrome who did not fulfill the diagnostic criteria (“Cohen-like” syndrome). This study provides a molecular confirmation of the clinical phenotype associated with Cohen syndrome and provides a basis for laboratory screening that will be valuable in its diagnosis

    An empirical model of the Earth's horizontal wind fields: HWM07

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    The new Horizontal Wind Model (HWM07) provides a statistical representation of the horizontal wind fields of the Earth's atmosphere from the ground to the exosphere (0-500 km). It represents over 50 years of satellite, rocket, and ground-based wind measurements via a compact Fortran 90 subroutine. The computer model is a function of geographic location, altitude, day of the year, solar local time, and geomagnetic activity. It includes representations of the zonal mean circulation, stationary planetary waves, migrating tides, and the seasonal modulation thereof. HWM07 is composed of two components, a quiet time component for the background state described in this paper and a geomagnetic storm time component (DWM07) described in a companion paper

    Mesosphere/lower thermosphere prevailing wind model

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    The mesosphere/lower thermosphere (MLT) wind data from the 46 ground-based (GB) MF and meteor radar (MR) stations, located at the different latitudes over the globe, and the space-based (SB) HRDI data were used for constructing of the empirical global climatic 2-D prevailing wind model at 80-100 km heights for all months of the year. The main data set is obtained during 1990-2001 period. It is shown that the three datasets (MF, MR, HRDI) are mainly well correlated. However, a certain systematic bias between the GB and SB data at 96 km exists, as well as that between the MF and MR data higher 88 km. Simple correction factors are proposed to minimize these biases. The 2-D distant-weighted least-square interpolation procedure for some arbitrary collection of points was used for drawing model contour plots. The model is available in the computer readable form and may be used for construction of the new CIRA model. © 2004 COSPAR. Published by Elsevier Ltd. All rights reserved
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