Browsing by Subject "child"
Now showing items 1-16 of 16
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CCR5 promoter polymorphisms in a Kenyan perinatal human immunodeficiency virus type 1 cohort: Association with increased 2-year maternal mortality
(2001)The CCR5 chemokine receptor acts as a coreceptor with CD4 to permit infection by primary macrophage-tropic human immunodeficiency virus type 1 (HIV-1) strains. The CCR5Δ32 mutation, which is associated with resistance to ...
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Clinical aspects of cystinuria
(1997)
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Ethnic minority immigrants and their children in Britain
(2010)This paper investigates educational attainment and economic performance of ethnic minority immigrants and their children in Britain, in comparison to white British born. We find that ethnic minority immigrants and their ...
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Familial C3 Glomerulopathy Associated with CFHR5 Mutations: Clinical Characteristics of 91 Patients in 16 Pedigrees
(2011)Background and objectives Complement factor H and related proteins (CFHR) are key regulators of the alternative complement pathway, where loss of function mutations lead to a glomerulopathy with isolated mesangial C3 ...
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Founder mutations in the ATP6V1B1 geneexplain most cypriot cases of distal renal tubular acidosis: First prenatal diagnosis
(2011)Aims: To investigate clinically and genetically all the distal renal tubular acidosis (dRTA) cases in Cyprus, to study one more family from Greece and to perform the first dRTA prenatal diagnosis. We also tried to find any ...
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Frequency of COL4A3/COL4A4 Mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing
(2014)Familial glomerular hematuria(s) comprise a genetically heterogeneous group of conditions which include Alport Syndrome (AS) and thin basement membrane nephropathy (TBMN). Here we investigated 57 Greek-Cypriot families ...
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Frequency of COL4A3/COL4A4 Mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing
(2014)Familial glomerular hematuria(s) comprise a genetically heterogeneous group of conditions which include Alport Syndrome (AS) and thin basement membrane nephropathy (TBMN). Here we investigated 57 Greek-Cypriot families ...
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Measuring recent thymic emigrants in blood of normal and HIV-1-infected individuals before and after effective therapy
(1999)The role of the thymus in HIV-1 pathogenesis remains unclear. We developed an assay to quantify the number of recent thymic emigrants in blood based on the detection of a major excisional DNA byproduct (termed α1 circle) ...
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Medical diagnostic systems: A case for neural networks
(1994)Recent advances in computer technology offer to the medical profession specialized tools for gathering medical data, processing power, as well as fast storing and retrieving capabilities. Artificial intelligence (AI), an ...
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Medullary cystic kidney disease type 1: Mutational analysis in 37 genes based on haplotype sharing
(2006)Medullary cystic kidney disease type 1 (MCKD1) is an autosomal dominant, tubulo-interstitial nephropathy that causes renal salt wasting and end-stage renal failure in the fourth to seventh decade of life. MCKD1 was localized ...
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Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population
(2015)Background and Aims: Cystinuria represents 3% of nephrolithiasis in humans. Two genes have been identified as the main genetic causes of cystinuria, SLC3A1 and SLC7A9, with an autosomal recessive mode of inheritance. In ...
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Non-isotopic RNase cleavage assay for mutation detection in MEFV, the gene responsible for familial Mediterranean fever, in a cohort of Greek patients
(2004)Background: The MEFV gene is responsible for familial Mediterranean fever (FMF). Several disease associated mutations have been identified. The range of genetic variation in MEFV in Greek patients has not been determined. ...
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Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1- and PKD2-linked markers in Cypriot families
(1996)Autosomal dominant polycystic kidney disease (ADPKD), is a heterogeneous disorder, primarily characterized by the formation of cysts in the kidneys, and the late development in life of progressive chronic kidney failure. ...
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A Simplified Method for Measuring the Thickness of Glomerular Basement Membranes
(2003)Measurement of the thickness of glomerular basement membranes is required for the diagnosis of thin membrane nephropathy. Over the years various morphometric methods have been used but some are laborious so there is a need ...
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Surface EMG analysis on normal subjects based on isometric voluntary contraction
(2009)The objective of this study was to compute reference SEMG values for normal subjects of 13 parameters extracted in the time, frequency and bispectrum domain, from the Biceps Brachii (BB) muscle generated under isometric ...