948 resultados para atom chip


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J Biol Inorg Chem (2011) 16:443–460 DOI 10.1007/s00775-010-0741-z

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J Biol Inorg Chem (2010) 15:409–420 DOI 10.1007/s00775-009-0613-6

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J Biol Inorg Chem (2008) 13:1185–1195 DOI 10.1007/s00775-008-0414-3

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J Biol Inorg Chem (2007) 12:353–366 DOI 10.1007/s00775-006-0191-9

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Acc. Chem. Res., 2006, 39 (10), pp 788–796 DOI: 10.1021/ar050104k

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J Biol Inorg Chem (2004) 9: 791–799 DOI 10.1007/s00775-004-0573-9

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J. Am. Chem. Soc., 2004, 126 (28), pp 8614–8615 DOI: 10.1021/ja0490222

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Leber Congenital Amaurosis (LCA), the most severe inherited retinal dystrophy, is genetically heterogeneous, with 14 genes accounting for 70% of patients. Here, 91 LCA probands underwent LCA chip analysis and subsequent sequencing of 6 genes (CEP290, CRB1, RPE65, GUCY2D, AIPL1and CRX), revealing mutations in 69% of the cohort, with major involvement of CEP290 (30%). In addition, 11 patients with early-onset retinal dystrophy (EORD) and 13 patients with Senior-Loken syndrome (SLS), LCA-Joubert syndrome (LCA-JS) or cerebello-oculo-renal syndrome (CORS) were included. Exhaustive re-inspection of the overall phenotypes in our LCA cohort revealed novel insights mainly regarding the CEP290-related phenotype. The AHI1 gene was screened as a candidate modifier gene in three patients with the same CEP290 genotype but different neurological involvement. Interestingly, a heterozygous novel AHI1 mutation, p.Asn811Lys, was found in the most severely affected patient. Moreover, AHI1 screening in five other patients with CEP290-related disease and neurological involvement revealed a second novel missense variant, p.His758Pro, in one LCA patient with mild mental retardation and autism. These two AHI1 mutations might thus represent neurological modifiers of CEP290-related disease.

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Dissertação apresentada para obtenção do Grau de Mestre em Engenharia Electrotécnica e de Computadores, pela Universidade Nova de Lisboa, Faculdade de Ciências e Tecnologia

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Dissertação para obtenção do Grau de Doutor em Engenharia Física

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This work describes an electrochemical and quantum chemical investigation of the fipronil insecticide. Cyclic voltammetry (CV) and square wave voltammetry (SWV) experiments were performed over a graphite-polyurethane (GPU) composite electrode. The fipronil molecule presents an one?electron irreversible oxidation reaction. Profiting the SWV signal a square wave stripping voltammetry (SWSV) procedure to determine the fipronil molecule in a 0.10 mol L-1 Britton-Robinson buffer solution, pH 8.0 was developed with accumulation potential and time of 0.50 V and 120 s, respectively. The limits of detection and quantification were 0.80 and 2.67 ?g L-1, respectively. Recovery tests were performed in three natural waters samples with values ranging from 99.67 to 101.37%. Quantum chemical studies showed that the nitrogen atom of the pyrazole group is the most probable oxidation site of the fipronil molecule.

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Dissertation presented to obtain the Ph.D degree in Biochemistry

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Dissertação apresentada para cumprimento dos requisitos necessários à obtenção do grau de Mestre em Ciências da Informação e da Documentação

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Dissertação para obtenção do Grau de Mestre em Engenharia Informática