(1) In the initial descriptions of the elfin-facies-syndrome by Williams and Beuren, supravalvular aortic stenosis was considered to be a constant feature of the syndrome, combined with retardation of mental and physical development, dentition anomalies and the peculiar face.
(2) These observations suggest that hypercalcemia may be the consequence of abnormal synthesis or degradation of 1,25-(OH)2D in children with the elfin facies syndrome.
(3) Plasma 1,25 (OH)2D levels were higher than those found in three children (16 to 60 months old) with the elfin facies syndrome and no hypercalcemia (42 to 71 pg per milliliter) and eight children (1 to 36 months old) with hypercalcemia and no dysmorphy (12 to 140 pg per milliliter), including two children with vitamin D intoxication.
(4) Elfin and nimble, Clare had seemingly boundless energy.
(5) Perhaps it’s the accent; maybe it’s the elfin grin.
(6) Williams syndrome is a rare anomaly consisting of idiopathic hypercalcemia that is normally accompanied by aortic stenosis, moderate mental retardation, and a characteristic elfin face.
(7) Three cases had mental retardation and "elfin" face (SAS with specific psychophysical syndrome), the rest had a normal psyco-physical state without family antecedents (sporadic SAS).
(8) Joanne Purdie had her first child, Holly Elfin, without medical assistance on the barge where she lives.
(9) Two male black patients, 18 and 12-year-old, with mental retardation and typical elfin face, presented with severe supravalvular aortic stenosis, thus characterizing Williams's or aortic supravalvular stenosis syndrome.
(10) Hypercalcemia in the three children with elfin facies was controlled by a low-calcium diet.
(11) His brother also had the typical phenotypic features of the elfin facies.
(12) LucasFilm said Irvin Kershner, who directed The Empire Strikes Back, would "note that Freeborn quite literally put himself into Yoda, as the Jedi master's inquisitive and mischievous elfin features had more than a passing resemblance to Freeborn himself".
(13) Until recently Cooper looked like a schoolgirl, rosy-cheeked and elfin, but having just turned 40 she now looks more like a school teacher - while she can sometimes seem detached, the impression is more of cerebral distraction than any lack of warmth.
(14) Morrissey, guarded at first, soon warms to the challenge of self-analysis and with the mop-topped, slightly elfin Marr, exudes a confidence in the strength and resilience of the Smiths that is unquestionably honest.
(15) With more extensive recognition and reporting of this "severe" subgroup, the diagnostic constellation of IIH, mental deficiency, elfin face, and supravalvular aortic stenosis (SVAS) evolved as WS.
(16) This paper describes the planning, implementation, use, and evaluation of a group for parents of children with Williams elfin facies syndrome in an interdisciplinary health care setting.
(17) In 2007, the elfin and perky 18-year-old Thomas Neuwirth came second in the Austrian TV talent show Starmania .
(18) Beuren-Williams syndrome is characterized by elfin face, mental retardation in addition to cardiovascular lesions, which consist in supravalvular aortic stenosis and peripheral pulmonary stenosis.
(19) In person, she’s warm and candid, with a wry, wicked sense of humour and elfin looks.
(20) The grizzled Scots actor Brian Cox, then living in New York, and the more elfin Alan Cumming, another US exile, were sent on stage, as was the folk singer Dougie MacLean, to perform his nationalist anthem Caledonia in a duet with a young Glaswegian indie singer Lou Hickey.
Urchin
Definition:
(n.) A hedgehog.
(n.) A sea urchin. See Sea urchin.
(n.) A mischievous elf supposed sometimes to take the form a hedgehog.
(n.) A pert or roguish child; -- now commonly used only of a boy.
(n.) One of a pair in a series of small card cylinders, arranged around a carding drum; -- so called from its fancied resemblance to the hedgehog.
(a.) Rough; pricking; piercing.
Example Sentences:
(1) CyIIIa.CAT) expression simultaneously in embryos bearing excess competitor regulatory DNA, we developed, and here describe, a new procedure for generating transgenic sea urchin embryos in which all of the cells in many embryos, and most in others, bear the exogenous DNA.
(2) An oligonucleosome 12-mer was reconstituted in the absence of linker histones, onto a DNA template consisting of 12 tandemly arranged 208-base pair fragments of the 5 S rRNA gene from the sea urchin Ly-techinus variegatus (Simpson, R. T., Thoma, F. S., and Burbaker, J. M. (1985) Cell 42, 799-808).
(3) 1c for structure), for continuous measurement of [Ca2+]i from fertilization through the first cleavage of individual eggs of the sea urchin Lytechinus pictus.
(4) The agglutination of the sea urchin spermatozoa was inhibited specifically by ceratain carbohydrates.
(5) The levels of different classes of mitochondrially encoded transcripts are developmentally regulated in sea urchin embryos, as a result of selection between mutually exclusive synthetic pathways.
(6) Antimicrobial activity of polyhydroxynaphthoquinones from sea urchins was studied.
(7) A special type of beta-turn structural motif has been proposed for this sequence, and it has been shown that a segment of the sea urchin sperm H1 N terminus, which has six repeats of the motif (S6 peptide), binds to DNA and competes with the DNA binding drug Hoechst 33258.
(8) The fertilization reaction of echinoderm eggs (Lytechinus pictus, a sea urchin, and Dendraster excentricus, a sand dollar) was followed with intracellular electrodes.
(9) Sperm-specific histone variants in the sea urchin Paracentrotus lividus are replaced early after fertilization with a specific embryonic set of histone variants.
(10) Spermidine is rapidly taken up and becomes bound to protein during the very early hours of sea urchin embryogenesis.
(11) The tandemly repeated genes were expressed at a higher rate in blastula than in gastrula stage relative to the single-copy gene, when the two genes were injected into sea urchin zygotes.
(12) The purine inhibits the detachment of the vitelline layer from the sea-urchin egg plasma membrane after fertilization and this effect leads to polyspermy.
(13) Microtubule assembly is required for the formation of the male and female pronuclei during mouse, but not sea urchin, fertilization.
(14) In situ hybridization of sea urchin (Psammechinus miliaris, Lytechinus pictus and Strongylocentrotus purpuratus) histone messenger RNA has been used to map complementary sequences on polytene chromosomes from Drosophila melanogaster.
(15) We have examined the relationship between the newly synthesized mRNA that enters polysomes in sea urchin embryos and the messengerlike RNA that enters the pool of ribosome-free ribonucleoprotein particles (free RNPs or informosomes).
(16) Individual oocytes of the sea urchin with diameters which ranged from 86 to 102% that of the average diameter for mature eggs from the same female were examined.
(17) Puncture wounds were cuased in 9 patients by sea urchin spines and 1 patient by a date palm thorn.
(18) A method based on the degradation by enzymes and nitrous acid of isotopically labelled glycosaminoglycans has been employed to study the synthesis of these compounds in normal, animalized and vegetalized sea urchin embryos.
(19) From these results, we conclude that USE 1 and perhaps USE 2 in the H2A modulator are upstream transcriptional elements that are recognized by trans-acting factors common to Xenopus and sea urchin.
(20) We have used an in vitro assay to characterize some of the motile properties of sea urchin egg kinesin.