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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2011-2-17
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pubmed:abstractText |
To date, very few cases with adult-onset focal segmental glomerulosclerosis (FSGS) carrying NPHS2 variants have been described, all of them being compound heterozygous for the p.R229Q variant and one pathogenic mutation.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
1555-905X
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pubmed:author |
pubmed-author:ArsElisabetE,
pubmed-author:BallarínJoséJ,
pubmed-author:CoboMaría ÁngelesMÁ,
pubmed-author:FSGS Spanish Study Group,
pubmed-author:García-MasetRafaelR,
pubmed-author:GiménezIsabelI,
pubmed-author:RuízPatriciaP,
pubmed-author:SantínSheilaS,
pubmed-author:SilvaIreneI,
pubmed-author:Tazón-VegaBárbaraB,
pubmed-author:TorraRoserR
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pubmed:issnType |
Electronic
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pubmed:volume |
6
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
344-54
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pubmed:meshHeading |
pubmed-meshheading:20947785-Adolescent,
pubmed-meshheading:20947785-Adult,
pubmed-meshheading:20947785-Age of Onset,
pubmed-meshheading:20947785-Case-Control Studies,
pubmed-meshheading:20947785-Chi-Square Distribution,
pubmed-meshheading:20947785-Child, Preschool,
pubmed-meshheading:20947785-DNA Mutational Analysis,
pubmed-meshheading:20947785-Disease Progression,
pubmed-meshheading:20947785-Drug Resistance,
pubmed-meshheading:20947785-Female,
pubmed-meshheading:20947785-Gene Frequency,
pubmed-meshheading:20947785-Genetic Predisposition to Disease,
pubmed-meshheading:20947785-Genetic Testing,
pubmed-meshheading:20947785-Glomerulosclerosis, Focal Segmental,
pubmed-meshheading:20947785-Haplotypes,
pubmed-meshheading:20947785-Heterozygote,
pubmed-meshheading:20947785-Homozygote,
pubmed-meshheading:20947785-Humans,
pubmed-meshheading:20947785-Infant,
pubmed-meshheading:20947785-Infant, Newborn,
pubmed-meshheading:20947785-Intracellular Signaling Peptides and Proteins,
pubmed-meshheading:20947785-Kidney Failure, Chronic,
pubmed-meshheading:20947785-Kidney Transplantation,
pubmed-meshheading:20947785-Male,
pubmed-meshheading:20947785-Membrane Proteins,
pubmed-meshheading:20947785-Microsatellite Repeats,
pubmed-meshheading:20947785-Middle Aged,
pubmed-meshheading:20947785-Mutation,
pubmed-meshheading:20947785-Nephrotic Syndrome,
pubmed-meshheading:20947785-Odds Ratio,
pubmed-meshheading:20947785-Phenotype,
pubmed-meshheading:20947785-Polymorphism, Single Nucleotide,
pubmed-meshheading:20947785-Predictive Value of Tests,
pubmed-meshheading:20947785-Risk Assessment,
pubmed-meshheading:20947785-Risk Factors,
pubmed-meshheading:20947785-Spain,
pubmed-meshheading:20947785-Steroids,
pubmed-meshheading:20947785-Time Factors,
pubmed-meshheading:20947785-Treatment Outcome,
pubmed-meshheading:20947785-Young Adult
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pubmed:year |
2011
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pubmed:articleTitle |
Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.
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pubmed:affiliation |
Fundació Puigvert, Cartagena 340-350, 08025 Barcelona, Spain.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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