3,495 research outputs found
Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome (Am J Med Genet 140A:17–23, 2006)
No full textCongenital diaphragmatic hernia (CDH) is a common and often devastating birth defect that can occur in isolation or as part of a malformation complex. Considerable progress is being made in the identification of genetic causes of CDH. We applied array-based comparative genomic hybridization (aCGH) of approximately 1Mb resolution to 29 CDH patients with prior normal karyotypes who had been recruited into our multi-site study. One patient, clinically diagnosed with Fryns syndrome, demonstrated a de novo 5Mb deletion at chromosome region 1q41-q42.12 that was confirmed by FISH. Given prior reports of CDH in association with cytogenetic abnormalities in this region, we propose that this represents a locus for Fryns syndrome, a Fryns syndrome phenocopy, or CDH
Voice Compression and Communications: Principles and Applications for Fixes and Wireless Channels
No full textUp-to-date, expert coverage of topics in wireless voice communications Voice communication is the most important facet of mobile radio service. Even when the predicted surge of wireless data and Internet services becomes a reality, voice will remain the most natural means of human communication. Voice Compression and Communications details issues in wireless voice communications and treats compression, channel coding, and wireless transmission as a joint subject. Part I covers background material, whereas Part II provides detailed information on both proprietary and standardized analysis-by-synthesis codecs, including the speech codecs of virtually all existing wireline-based and wireless systems. Parts III and IV discuss mainly research-based wideband, audio, as well as very low-rate schemes likely to find their way into future standards. Voice Compression and Communications describes fundamental concepts in a non-mathematical way early in the book for those with only a background knowledge of signal processing and communications. More advanced readers will find detailed discussions of theoretical principles, future concepts, and solutions to various specific wireless voice communications problems
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism
No full textFirst published online in 2009Mutations in the UPF3B gene, which encodes a protein involved in nonsense-mediated mRNA decay, have recently been described in four families with specific (Lujan-Fryns and FG syndromes), nonspecific X-linked mental retardation (XLMR) and autism. To further elucidate the contribution of UPF3B to mental retardation (MR), we screened its coding sequence in 397 families collected by the EuroMRX consortium. We identified one nonsense mutation, c.1081C>T/p.Arg361(*), in a family with nonspecific MR (MRX62) and two amino-acid substitutions in two other, unrelated families with MR and/or autism (c.1136G>A/p.Arg379His and c.1103G>A/p.Arg368Gln). Functional studies using lymphoblastoid cell lines from affected patients revealed that c.1081C>T mutation resulted in UPF3B mRNA degradation and consequent absence of the UPF3B protein. We also studied the subcellular localization of the wild-type and mutated UPF3B proteins in mouse primary hippocampal neurons. We did not detect any obvious difference in the localization between the wild-type UPF3B and the proteins carrying the two missense changes identified. However, we show that UPF3B is widely expressed in neurons and also presents in dendritic spines, which are essential structures for proper neurotransmission and thus learning and memory processes. Our results demonstrate that in addition to Lujan-Fryns and FG syndromes, UPF3B protein truncation mutations can cause also nonspecific XLMR. We also identify comorbidity of MR and autism in another family with UPF3B mutation. The neuronal localization pattern of the UPF3B protein and its function in mRNA surveillance suggests a potential function in the regulation of the expression and degradation of various mRNAs present at the synapse.F. Laumonnier, C. Shoubridge, L.S. Nguyen, H. Van Esch, T. Kleefstra, S. Briault, J.P. Fryns, B. Hamel, J. Chelly, H.H. Ropers, N. Ronce, S. Blesson, C. Moraine, J. Gécz and M. Raynau
1973-10-25 Morehead State Concert and Lecture Series J.P. Donleavy
No full textRenowned author J.P. Donleavy speaks on the plight of an author and the methods to write, recorded on October 25, 1973
Entrainment and detrainment rates from the piv measurements at the top of laboratory analogs of stratocumulus and cumulus clouds
No full textWe analyze mixing at the top of laboratory analogs of convective clouds: stratocumulus and cumulus to investigate entrainment of environmental air into the cloud. We retrieve two components of air velocity using Particle Image Velocimetry technique. Suitable image processing allows to determine cloud–clear air interface. Using velocity differences between cloudy and clear sides of the interface we calculate entrainment / detrainment rates
Vortex Dynamics in The Transitional and Turbulent Wake of 6:1 Prolate Spheroid at 45-deg incidence angle
No full textThe incompressible flow past a 6:1 prolate spheroid with an inclination angle of 45o at Re = 3,000 has been studied by means of direct numerical simulations (DNS). The Reynolds number is based on the inflow velocity and minor-axis length. The preliminary results presented here are focused mainly on vortex dynamics and vortical structures in the wake. The wake behind this configuration starts almost symmetric but is soon strongly deflected and bent as it evolves to the intermediate wake. A pair of unequal-strength vortices dominates the intermediate wake, of which one exhibits the shape of a long vortex tube while the other rapidly breaks down into turbulent-like vortical structures
The concurrence of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Langer type of mesomelic dwarfism in the same patient. Evidence of the location of Langer type of mesomelic dwarfism at 3q22.3-q23?
No full textScreening for the Fragile X Syndrome: The Necessity of International Guidelines for Molecular Genetics Predictive Testing in General
No full texteditoria
Y-chromosome mosaicism with ring Y-chromosome/idic(Y)(p11.2) and “normal” ovarian development
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