1000 resultados para 71-17
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Secure & Prepared is a bi-weekly publication of the Iowa Homeland Security & Emergency Management Division for those involved in the homeland security system in the state of Iowa.
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Secure & Prepared is a bi-weekly publication of the Iowa Homeland Security & Emergency Management Division for those involved in the homeland security system in the state of Iowa.
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Genomic rearrangements at chromosome 13q31.3q32.1 have been associated with digital anomalies, dysmorphic features, and variable degree of mental disability. Microdeletions leading to haploinsufficiency of miR17∼92, a cluster of micro RNA genes closely linked to GPC5 in both mouse and human genomes, has recently been associated with digital anomalies in the Feingold like syndrome. Here, we report on a boy with familial dominant post-axial polydactyly (PAP) type A, overgrowth, significant facial dysmorphisms and autistic traits who carries the smallest germline microduplication known so far in that region. The microduplication encompasses the whole miR17∼92 cluster and the first 5 exons of GPC5. This report supports the newly recognized role of miR17∼92 gene dosage in digital developmental anomalies, and suggests a possible role of GPC5 in growth regulation and in cognitive development.
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Kirje 17.2.1932
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Puhe
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[Bible. A.T. (hébreu-français). 1831-1851]
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Sarcoidosis is a multi-system disease that may involve any organ or system. Cutaneous manifestations occur in 25-30% of patients. Objective: The aim of this work is to describe the main clinical and histopathological findings of cutaneous sarcoidosis. Material and methods: A retrospective review of all patients who were diagnosed with cutaneous sarcoidosis. Results and conclusion: At presentation, the age of the patients ranged from 37 to 71 years. There were 24 females and 5 males. Systemic organ involvement was observed in 17 out of the 29 cases (59%). Histologically, in all cases, naked sarcoidal granulomas were present.
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Kirje 17.11.1942