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rdf:type |
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lifeskim:mentions |
umls-concept:C0017337,
umls-concept:C0026882,
umls-concept:C0027726,
umls-concept:C0376558,
umls-concept:C0439234,
umls-concept:C0694898,
umls-concept:C0868928,
umls-concept:C1314792,
umls-concept:C1416781,
umls-concept:C1417784,
umls-concept:C1421972
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pubmed:issue |
4
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pubmed:dateCreated |
2007-4-3
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pubmed:abstractText |
Mutations in each of the NPHS1, NPHS2, WT1, and LAMB2 genes have been implicated in nephrotic syndrome, manifesting in the first year of life. The relative frequency of causative mutations in these genes in children with nephrotic syndrome manifesting in the first year of life is unknown. Therefore, we analyzed all 4 of the genes jointly in a large European cohort of 89 children from 80 families with nephrotic syndrome manifesting in the first year of life and characterized genotype/phenotype correlations.
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pubmed:grant |
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
1098-4275
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pubmed:author |
pubmed-author:Arbeitsgemeinschaft für Paediatrische Nephrologie Study Group,
pubmed-author:GbadegesinRasheedR,
pubmed-author:HanganDanielaD,
pubmed-author:HasselbacherKatrinK,
pubmed-author:HildebrandtFriedhelmF,
pubmed-author:HinkesBernward GBG,
pubmed-author:LiuJinhongJ,
pubmed-author:MuchaBettinaB,
pubmed-author:OzaltinFatihF,
pubmed-author:VlangosChristopher NCN,
pubmed-author:ZenkerMartinM
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pubmed:issnType |
Electronic
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pubmed:volume |
119
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
e907-19
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:17371932-Age Factors,
pubmed-meshheading:17371932-Child, Preschool,
pubmed-meshheading:17371932-Cohort Studies,
pubmed-meshheading:17371932-DNA Mutational Analysis,
pubmed-meshheading:17371932-Disease Progression,
pubmed-meshheading:17371932-Europe,
pubmed-meshheading:17371932-Female,
pubmed-meshheading:17371932-Gene Frequency,
pubmed-meshheading:17371932-Genetic Predisposition to Disease,
pubmed-meshheading:17371932-Genotype,
pubmed-meshheading:17371932-Humans,
pubmed-meshheading:17371932-Incidence,
pubmed-meshheading:17371932-Infant,
pubmed-meshheading:17371932-Infant, Newborn,
pubmed-meshheading:17371932-Intracellular Signaling Peptides and Proteins,
pubmed-meshheading:17371932-Male,
pubmed-meshheading:17371932-Membrane Proteins,
pubmed-meshheading:17371932-Mutation,
pubmed-meshheading:17371932-Nephrotic Syndrome,
pubmed-meshheading:17371932-Risk Assessment,
pubmed-meshheading:17371932-WT1 Proteins
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pubmed:year |
2007
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pubmed:articleTitle |
Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).
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pubmed:affiliation |
Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Multicenter Study,
Research Support, N.I.H., Extramural
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