نتایج جستجو برای: adams syndrome
تعداد نتایج: 627402 فیلتر نتایج به سال:
1. Snape KM, Ruddy D, Zenker M et al. The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. Am J Med Genet A 2009: 149A (8): 1860–1881. 2. Hassed SJ, Wiley GB, Wang S et al. RBPJ mutations identified in two families affected by Adams-Oliver syndrome. Am J Hum Genet 2012: 91 (2): 391–395. 3. Southgate L, Sukalo M, Karountzos AS et al. Haploinsufficie...
A 1-day-old boy with the characteristics of Adams-Oliver syndrome was presented. Adams-Oliver syndrome has a wide spectrum of anomalies ranging from aplasia cutis congenita, cutis marmorata telangiectatica congenita and transverse limb defects to lethal anomalies. Our patient had aplasia cutis congenita with scalp, skull and dura defect. He had also a large dura defect with herniation of brain ...
Attempts to apply methods of statistical thermodynamics to turbulent flows have usually been based on wave number decomposition of an Eulerian velocity field. ' Intermittency, which involves spatially localized phenomena and hence phase correlations, is notoriously difficult to treat in this way. An essential feature of turbulence is the randomization of positions of fluid elements, in the sens...
To cite: van Geyzel L, Gribbon C, Bradley S, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2016-217959 DESCRIPTION A male infant presented with drooling of saliva at birth. There was an antenatal history of polyhydramnios. Oesophageal atresia and tracheoesophageal fistula (OA/TOF) were confirmed by the coiled nasogastric tube on chest X-ray. Skin was per...
Perampanel (PER) is the first-in-class selective, noncompetitive α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor antagonist that has been licensed and marketed as antiepileptic drug (AED) indicated for patients with partial-onset and primary generalized tonic-clonic seizures. A positive effect was reported in some patients with epileptic myoclonic jerks in idiopathic genera...
An unusual case of ventricular arrhythmia is reported with electrocardiograms showing complete attacks of ventricular tachycardia, ventricular flutter and ventricular fibrillation. The etiology is unknown. Large doses of quinidine, to the point of toxicity, seemed to halt the arrhythmia but did not prevent its recurrence. Ephedrine was given with resulting immediate improvement and no recurrenc...
Notch signaling determines and reinforces cell fate in bilaterally symmetric multicellular eukaryotes. Despite the involvement of Notch in many key developmental systems, human mutations in Notch signaling components have mainly been described in disorders with vascular and bone effects. Here, we report five heterozygous NOTCH1 variants in unrelated individuals with Adams-Oliver syndrome (AOS),...
Statistical methods for detecting changes in longitudinal time series of psychophysiological data are limited. ANOVA and mixed models are not designed to detect the existence, timing, or duration of unknown changes in such data. Change point (CP) analysis was developed to detect distinct changes in time series data. Preliminary reports using CP analysis for fMRI data are promising. Here, we ill...
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