Search Results - "PEREZ, V. L"
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mTOR mutations in Smith‐Kingsmore syndrome: Four additional patients and a review
Published in Clinical genetics (01-04-2018)“…Smith‐Kingsmore syndrome (SKS) OMIM #616638, also known as MINDS syndrome (ORPHA 457485), is a rare autosomal dominant disorder reported so far in 23 patients…”
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2
The anterior chamber of the eye as a clinical transplantation site for the treatment of diabetes: a study in a baboon model of diabetes
Published in Diabetologia (01-05-2011)“…Aims/hypothesis The aim of this study was to provide evidence that the anterior chamber of the eye serves as a novel clinical islet implantation site. Methods…”
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3
The eye: A window to the soul of the immune system
Published in Journal of autoimmunity (01-09-2013)“…Abstract The eye is considered as an immune privileged site, and with good reason. It has evolved a variety of molecular and cellular mechanisms that limit…”
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Estimation of the age at onset in spinocerebellar ataxia type 2 Cuban patients by survival analysis
Published in Clinical genetics (01-08-2010)“…Almaguer‐Mederosa LE, Falcón NS, Almira YR, Zaldivar YG, Almarales DC, Góngora EM, Herrera MP, Batallán KE, Armiñán RR, Manresa MV, Cruz GS, Laffita‐Mesa J,…”
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Role of T Cell Recruitment and Chemokine‐Regulated Intra‐Graft T Cell Motility Patterns in Corneal Allograft Rejection
Published in American journal of transplantation (01-06-2013)“…Keratoplasty is the primary treatment to cure blindness due to corneal opacification. However, immune‐mediated rejection remains the leading cause of…”
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Biallelic mutations in DYNC2LI1 are a rare cause of Ellis‐van Creveld syndrome
Published in Clinical genetics (01-03-2018)“…Ellis‐van Creveld syndrome (EvC) is a chondral and ectodermal dysplasia caused by biallelic mutations in the EVC, EVC2 and WDR35 genes. A proportion of cases…”
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7
Capillary liquid chromatography with diode array and mass spectrometry detection for heterocyclic aromatic amine determination in ready-to-eat food treated with electron-beam irradiation
Published in Journal of Chromatography A (22-10-2010)“…In the present paper, we have developed a capillary liquid chromatography with MS detection for the determination at ng g −1 levels of four heterocyclic…”
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Journal Article Conference Proceeding -
8
Large injection volumes in capillary liquid chromatography: Study of the effect of focusing on chromatographic performance
Published in Journal of Chromatography A (26-11-2010)“…This paper describes a multivariate approach to study the effect on chromatographic conditions and to optimize such conditions in capillary liquid…”
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Determination of serotonin and its precursors in chocolate samples by capillary liquid chromatography with mass spectrometry detection
Published in Journal of Chromatography A (06-04-2012)“…A method for the analysis of serotonin (5-HT) and its precursors, 5-hydroxytryptophan (5-HTP) and l-tryptophan (TP) in chocolate samples by capillary liquid…”
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10
Quantification of particulate matter, tracking the origin and relationship between elements for the environmental monitoring of the Antarctic region
Published in The Science of the total environment (15-05-2019)“…The present work reports on the analysis of atmospheric aerosols in the Antarctic region, Deception Island, collected during austral summer 2016–2017 by field…”
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11
Multiresidue determination of chlorophenoxy acid herbicides in human urine samples by use of solid-phase extraction and capillary LC-UV detection
Published in Analytical and bioanalytical chemistry (2008)“…Chlorophenoxy acid herbicides are intensively applied to get rid of unwanted plants because of their low cost and selectivity. Due to their toxicity, which…”
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Direct chiral liquid chromatography determination of aryloxyphenoxypropionic herbicides in soil: deconvolution tools for peak processing
Published in Analytical and bioanalytical chemistry (01-07-2011)“…In this paper, the enantiomeric separation of two aryloxyphenoxypropionic esters (fluazifop-butyl and quizalofop-ethyl) and a safener herbicide…”
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13
New approach to optimize HPLC separations of acid-base compounds with elution order involved, by using combined three-band resolution maps
Published in Analytical and bioanalytical chemistry (01-04-2010)“…Some of the optimization methods in reversed phase high-performance liquid chromatography (RP-HPLC) are based on resolution of the critical band pair. Mobile…”
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Determination of heterocyclic aromatic amines by capillary high-performance liquid chromatography with diode array detection in ready-to-eat cooked ham treated with electron-beam irradiation
Published in Analytical and bioanalytical chemistry (01-06-2008)“…Heterocyclic aromatic amines (HAs) are a group of mutagenic and carcinogenic substances present in significant amounts in cooked meat and fish that can…”
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15
Low predisposition to instability of the Friedreich ataxia gene in Cuban population
Published in Clinical genetics (01-06-2010)Get full text
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16
State Constrained Optimal Control Applied to Supervisory Control in HEVs
Published in Oil & gas science and technology (01-01-2010)“…The optimization of the supervisory control of hybrid electric vehicles over predetermined driving cycles has been used as a previous study for determining…”
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Journal Article Conference Proceeding -
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Antigliadin antibodies in Cuban patients with spinocerebellar ataxia type 2
Published in Journal of neurology, neurosurgery and psychiatry (01-03-2008)“…Objective:To evaluate the significance of antigliadin antibodies (AGA) levels for spinocerebellar ataxia type 2.Methods:We determined AGA levels in 64 patients…”
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18
Chemically modified polymeric sorbents for sample preconcentration
Published in Journal of Chromatography A (01-12-2000)“…Solid-phase extraction is an attractive alternative in sample preparation because it overcomes many drawbacks of liquid–liquid extraction and makes on-line…”
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Book Review Journal Article -
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Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis
Published in Nature genetics (01-03-2000)“…Ellis-van Creveld syndrome (EvC, MIM 225500) is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly and…”
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20
VEGF Increases Retinal Vascular ICAM-1 Expression In Vivo
Published in Investigative ophthalmology & visual science (01-07-1999)“…Intraocular injections of vascular endothelial growth factor (VEGF), a peptide implicated in the pathogenesis of diabetic retinopathy, can induce retinal…”
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