Search Results - "Lango, H"
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Improved genetic testing for monogenic diabetes using targeted next-generation sequencing
Published in Diabetologia (01-09-2013)“…Aims/hypothesis Current genetic tests for diagnosing monogenic diabetes rely on selection of the appropriate gene for analysis according to the patient’s…”
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A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia
Published in Pediatric diabetes (01-06-2017)“…Congenital hyperinsulinaemic hypoglycaemia (HH) can occur in isolation or it may present as part of a wider syndrome. For approximately 40%‐50% of individuals…”
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Improved genetic testing for monogenic diabetes using targeted next-generation sequencing
Published in Diabetologia (01-09-2013)Get full text
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4
What will whole genome searches for susceptibility genes for common complex disease offer to clinical practice?
Published in Journal of internal medicine (01-01-2008)“… In the developed world the majority of disease results from common, but complex disorders such as diabetes, obesity and cancer. Genetic variation explains a…”
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Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes
Published in Diabetologia (01-12-2008)“…Aims/hypothesis There are strong associations between measures of inflammation and type 2 diabetes, but the causal directions of these associations are not…”
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Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants
Published in Nature genetics (01-11-2007)“…We have genotyped 14,436 nonsynonymous SNPs (nsSNPs) and 897 major histocompatibility complex (MHC) tag SNPs from 1,000 independent cases of ankylosing…”
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Some dynamical properties of mappings defined on Knaster continua
Published in Topology and its applications (10-12-2002)“…We present an arc-like continuum X and a mapping f:X→X with the following properties: The set of recurrent points of f is dense in X; f has no periodic points…”
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A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia: FLANAGAN et al
Published in Pediatric diabetes (01-06-2017)Get full text
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