Search Results - "COLOMBI, M"
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Eating disorders: the increase in requests for help and the optimization of resources
Published in European psychiatry (01-08-2024)“…IntroductionThis work aims to provide an updated overview of the eating disorders (EDs) which are a widespread pathology nowadays. Informations related to the…”
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High prevalence of radiological vertebral fractures in adult patients with Ehlers–Danlos syndrome
Published in Bone (New York, N.Y.) (01-03-2016)“…Abstract Previous studies have reported an increased prevalence of osteoporosis in Ehlers–Danlos syndrome (EDS), but these were limited by a small number of…”
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Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers‐Danlos syndrome patients
Published in Clinical genetics (01-12-2017)“…Classical Ehlers‐Danlos syndrome (cEDS) is characterized by marked cutaneous involvement, according to the Villefranche nosology and its 2017 revision…”
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A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations
Published in Clinical genetics (01-01-2018)“…Deletions encompassing TAK1‐binding protein 2 (TAB2) associated with isolated and syndromic congenital heart defects. Rare missense variants are found in…”
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A systemic functional approach to teaching Spanish for heritage speakers in the United States
Published in Linguistics and education (2009)“…Heritage language speakers constitute a unique cultural and linguistic resource in the United States while also presenting particular challenges for language…”
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Genome-wide shRNA screen reveals increased mitochondrial dependence upon mTORC2 addiction
Published in Oncogene (31-03-2011)“…Release from growth factor dependence and acquisition of signalling pathway addiction are critical steps in oncogenesis. To identify genes required on…”
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Clinical variability in two Macedonian families with Arterial tortuosity syndrome
Published in Balkan journal of medical genetics (29-10-2018)“…Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disorder caused by mutations in the solute carrier family 2 member 10 ( ) gene encoding a…”
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The Effects of Health Plan Copayments on Adherence to Oral Diabetes Medication and Health Resource Utilization
Published in Journal of occupational and environmental medicine (01-05-2008)“…Objective: To assess the effects of copayments on oral diabetes medication adherence, health resource utilization, and expenditure. Methods: Retrospective,…”
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A Modeling Framework for Studying Quantum Key Distribution System Implementation Nonidealities
Published in IEEE access (2015)“…Quantum key distribution (QKD) is an innovative technology that exploits the laws of quantum mechanics to generate and distribute unconditionally secure shared…”
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Predictive mental workload modeling for semiautonomous system design: Implications for systems of systems
Published in Systems engineering (01-12-2012)“…Predictive mental workload modeling is one established tool within the broad systems engineering activity of Human Systems Integration (HSI). Using system…”
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Six-Year Cost Trends at PPG Industries Paralleling the Introduction of Health Promotion Programs Directed at Cardiovascular Disease Prevention
Published in Journal of occupational and environmental medicine (01-05-2013)“…OBJECTIVE:Over the past several years, PPG Industries (PPG) implemented worksite health promotion programs aimed at improving employeesʼ health and reducing…”
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A model for a two-source illuminant allowing daylight colour adjustment
Published in Lighting research & technology (London, England : 2001) (01-04-2016)“…A model is presented which determines the optimal placement of narrow-band emitters in a pair of light sources, where the correlated colour temperature (CCT)…”
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Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype
Published in Clinical genetics (01-03-2008)Get full text
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Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization
Published in Clinical genetics (01-10-2006)“…Dystrophic epidermolysis bullosa (DEB) pruriginosa (DEB‐Pr) is a rare variant of DEB due to COL7A1 dominant and recessive mutations, which is characterized by…”
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Isolation and characterization of dominant and recessive IL-3-independent hematopoietic transformants
Published in Oncogene (26-10-2006)“…Retroviral integration mutagenesis and treatment with the frameshift mutagen ICR191 were used to transform v-H-ras expressing PB-3c cells to interleukin-3…”
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The Influence of Worksite Health Promotion Program Management and Implementation Structure Variables on Medical Care Costs at PPG Industries
Published in Journal of occupational and environmental medicine (01-12-2010)“…Objective: To evaluate the relationship between critical factors for successful worksite health promotion programs such as management support and program…”
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Branch point and donor splice-site COL7A1 mutations in mild recessive dystrophic epidermolysis bullosa
Published in British journal of dermatology (1951) (01-08-2009)Get full text
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De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma
Published in Clinical genetics (01-01-2008)Get full text
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Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B
Published in Clinical genetics (01-12-2006)Get full text
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