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Year Number of Results
1971 1
2009 6
2010 4
2011 6
2012 4
2013 8
2014 3
2015 4
2016 8
2017 10
2018 3
2019 3
2020 1
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Page 1
Genetics of membranous nephropathy
Gupta S, et al. Nephrol Dial Transplant 2018 - Review. Among authors: Stanescu HC. PMID 29126273 Free PMC article.
Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome
Klootwijk ED, et al. N Engl J Med 2014. Among authors: Stanescu HC. PMID 24401050 Free article.
Urine was studied with the use of proton nuclear magnetic resonance ((1)H-NMR) spectroscopy. RESULTS: We linked the phenotype of this family's Fanconi's syndrome to a single locus on chromosome 3q27, where a heterozygous missense mutation in EHHADH segregated with the disease. ...Studies of proximal tubular cells revealed impaired mitochondrial oxidative phosphorylation and defects in the transport of fluids and a glucose analogue across the epithelium. (1)H-NMR spectroscopy showed elevated levels of mitochondrial metabolites in urine from affected family members. ...
Urine was studied with the use of proton nuclear magnetic resonance ((1)H-NMR) spectroscopy. RESULTS: We linked the phenotype of this …
Galactosylation of IgA1 Is Associated with Common Variation in C1GALT1
Gale DP, et al. J Am Soc Nephrol 2017. Among authors: Stanescu H. PMID 28209808 Free PMC article.
Gd-IgA1 level heritability (h(2)), estimated by comparing midparental and offspring Gd-IgA1 levels, was 0.39. Genome-wide association analysis by linear regression identified alleles at a single locus spanning the C1GALT1 gene that strongly associated with Gd-IgA1 level (β=0.26; P=2.35×10(-9)). ...
Gd-IgA1 level heritability (h(2)), estimated by comparing midparental and offspring Gd-IgA1 levels, was 0.39. Genome-wide association …
NT5E mutations and arterial calcifications
St Hilaire C, et al. N Engl J Med 2011. Among authors: Stanescu HC. PMID 21288095 Free PMC article.
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