980 resultados para williams
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v.27(1972)
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v.26:no.1(1972)
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v.29(1973)
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v.32(1973)
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Williams-Beuren syndrome (WBS; OMIM no. 194050) is a multisystemic neurodevelopmental disorder caused by a hemizygous deletion of 1.55 Mb on chromosome 7q11.23 spanning 28 genes. Haploinsufficiency of the ELN gene was shown to be responsible for supravalvular aortic stenosis and generalized arteriopathy, whereas LIMK1, CLIP2, GTF2IRD1 and GTF2I genes were suggested to be linked to the specific cognitive profile and craniofacial features. These insights for genotype-phenotype correlations came from the molecular and clinical analysis of patients with atypical deletions and mice models. Here we report a patient showing mild WBS physical phenotype and normal IQ, who carries a shorter 1 Mb atypical deletion. This rearrangement does not include the GTF2IRD1 and GTF2I genes and only partially the BAZ1B gene. Our results are consistent with the hypothesis that hemizygosity of the GTF2IRD1 and GTF2I genes might be involved in the facial dysmorphisms and in the specific motor and cognitive deficits observed in WBS patients.
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The molecular characterization of balanced chromosomal rearrangements have always been of advantage in identifying disease-causing genes. Here, we describe the breakpoint mapping of a de novo balanced translocation t(7;12)(q11.22;q14.2) in a patient presenting with a failure to thrive associated with moderate mental retardation, facial anomalies, and chronic constipation. The localization of the breakpoints and the co-occurrence of Williams-Beuren syndrome and 12q14 microdeletion syndrome phenotypes suggested that the expression of some of the dosage-sensitive genes of these two segmental aneuploidies were modified in cells of the proposita. However, we were unable to identify chromosomes 7 and/or 12-mapping genes that showed disturbed expression in the lymphoblastoids of the proposita. This case showed that position-effect might operate in some tissues, but not in others. It also illustrates the overlap of phenotypes presented by patients with the recently described 12q14 structural rearrangements.
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Donateur : Clermont, Raoul de (18..-19..?)
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Audit report on the City of Williams, Iowa for the year ended June 30, 2008
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ABSTRACT A new species of Aguna Williams, 1927 from Panamá is described: Aguna prasinus Siewert, Leviski, Mielke & Casagrande, sp. nov. Illustrations of adults and male genitalia are provided. A dichotomous key for the male Aguna species for the “claxon group” is also provided.
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The aim of this article is to analyze accurately the role played by two classical references, Venus and Oedipus, in Tennessee Williams¿s Suddenly Last Summer, in accordance with the usual nature of studies on Classical Tradition ¿Greek and Roman- and focusing in this case on the relationship between literature and mythology. It is thanks to Venus and Oedipus that the playwright succeeds in showing the magnitude of men¿s and women¿s tragedy, which from his point of view is simply that they have failed to see either kindness in the face of God or to feel his loving and fatherly providence.