Search Results - "Leal, S M"
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Does Bacterial Elasticity Affect Adhesion to Polymer Fibers?
Published in ACS applied materials & interfaces (25-03-2020)“…The factors governing bacterial adhesion to substrates with different topographies are still not fully identified. The present work seeks to elucidate for the…”
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Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)
Published in Journal of medical genetics (01-07-2005)“…Background: Majeed syndrome is an autosomal recessive, autoinflammatory disorder characterised by chronic recurrent multifocal osteomyelitis and congenital…”
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Test Performance and Potential Clinical Utility of the GenMark Dx ePlex Blood Culture Identification Gram-Negative Panel
Published in Microbiology spectrum (14-02-2023)“…The test performance and potential clinical utility of the ePlex blood culture identification Gram-negative (BCID-GN) panel was evaluated relative to…”
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Long term measurements of aerosol optical properties at a primary forest site in Amazonia
Published in Atmospheric chemistry and physics (01-03-2013)“…A long term experiment was conducted in a primary forest area in Amazonia, with continuous in-situ measurements of aerosol optical properties between February…”
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Amino Acid-Functionalized Polyelectrolyte Films as Bioactive Surfaces for Cell Adhesion
Published in ACS applied materials & interfaces (05-06-2019)“…Surfaces were prepared with polyelectrolyte derivatives of poly(styrene-alt-maleic anhydride) (PSMA) functionalized with amino acids of different hydropathy…”
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Carcass, meat quality traits, and economic analysis of Nellore bulls fed with finishing feedlot diets containing mechanically processed corn silage
Published in Tropical animal health and production (01-04-2023)“…Effects of mechanical processing (MP) of corn silage and its inclusion in feedlot diets on carcass and meat quality traits of Nellore ( Bos indicus ) were…”
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Hydraulic traits explain differential responses of Amazonian forests to the 2015 El Niño-induced drought
Published in The New phytologist (01-08-2019)“…Reducing uncertainties in the response of tropical forests to global change requires understanding how intra- and interannual climatic variability selects for…”
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Mutations in the γ-Actin Gene ( ACTG1) Are Associated with Dominant Progressive Deafness (DFNA20/26)
Published in American journal of human genetics (01-11-2003)“…Age-related hearing loss (presbycusis) is a significant problem in the population. The genetic contribution to age-related hearing loss is estimated to be…”
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microsatellite-based, gene-rich linkage map for the AA genome of Arachis (Fabaceae)
Published in Theoretical and applied genetics (01-10-2005)“…Cultivated peanut (Arachis hypogaea) is an important crop, widely grown in tropical and subtropical regions of the world. It is highly susceptible to several…”
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A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
Published in Journal of medical genetics (01-03-2006)“…Background: Ectodermal dysplasias are developmental disorders affecting tissues of ectodermal origin. To date, four different types of ectodermal dysplasia…”
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Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections
Published in Clinical genetics (01-06-2016)“…Marfan syndrome (MFS) due to mutations in FBN1 is a known cause of thoracic aortic aneurysms and acute aortic dissections (TAAD) associated with pleiotropic…”
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Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene
Published in Journal of medical genetics (01-01-2003)“…[...]hearing is a complex process. Since a hearing defect might occur at any place along the auditory pathway, it would seem reasonable to expect to be able to…”
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Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment
Published in Clinical genetics (01-07-2012)“…Lee K, Khan S, Islam A, Ansar M, Andrade PB, Kim S, Santos‐Cortez RLP, Ahmad W, Leal SM. Novel TMPRSS3 variants in Pakistani families with autosomal recessive…”
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Guidelines for investigating causality of sequence variants in human disease
Published in Nature (London) (24-04-2014)“…Acceleration in discovery of rare genetic variants possibly linked with disease may mean an increased risk of false-positive reports of causality; this…”
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A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia
Published in Clinical genetics (01-09-2011)“…Mendoza‐Fandino GA, Gee JM, Ben‐Dor S, Gonzalez‐Quevedo C, Lee K, Kobayashi Y, Hartiala J, Myers RM, Leal SM, Allayee H, Patel PI. A novel g.‐1258G>A mutation…”
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Analysis of the relationship between local climate change mitigation actions and greenhouse gas emissions – Empirical insights
Published in Energy policy (01-12-2017)“…Local actions are seen as of major importance for the achievement of climate change mitigation targets. In the past few years, the number of local action plans…”
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Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families
Published in Clinical genetics (01-09-2013)Get full text
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Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment
Published in Clinical genetics (01-01-2005)“…The Pakistani population has become an important resource for research on autosomal recessive non‐syndromic hearing impairment (ARNSHI) due to the availability…”
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Analytical performance and potential clinical utility of the GenMark Dx ePlex® blood culture identification gram-positive panel
Published in Diagnostic microbiology and infectious disease (01-11-2022)“…The test performance and potential clinical utility of the ePlex® BCID Gram-Positive (GP) Panel was evaluated relative to MALDI-TOF mass spectrometry on…”
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