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Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS).
- Published in:
- Nephrology Dialysis Transplantation, 2008, v. 23, n. 4, p. 1291
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- Publication type:
- Article
Genomic organisation of the ∼1.5 Mb Smith-Magenis syndrome critical interval: Transcription map, genomic contig, and candidate gene analysis.
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- European Journal of Human Genetics, 2001, v. 9, n. 12, p. 892, doi. 10.1038/sj.ejhg.5200734
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- Article
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.
- Published in:
- Nature Genetics, 2006, v. 38, n. 12, p. 1397, doi. 10.1038/ng1918
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- Article
Mutations in RAI1 associated with Smith-Magenis syndrome.
- Published in:
- Nature Genetics, 2003, v. 33, n. 4, p. 466, doi. 10.1038/ng1126
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- Publication type:
- Article
Next-Generation Sequencing Identifies the Danforth's Short Tail Mouse Mutation as a Retrotransposon Insertion Affecting Ptf1a Expression.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 2, p. 1, doi. 10.1371/journal.pgen.1003205
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- Article
A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations.
- Published in:
- PLoS Genetics, 2009, v. 5, n. 1, p. 1, doi. 10.1371/journal.pgen.1000353
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- Article
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).
- Published in:
- Nephrology Dialysis Transplantation, 2010, v. 25, n. 9, p. 2970, doi. 10.1093/ndt/gfq088
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- Article
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.
- Published in:
- Nephrology Dialysis Transplantation, 2008, v. 23, n. 11, p. 3527, doi. 10.1093/ndt/gfn271
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- Publication type:
- Article
Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome.
- Published in:
- Pediatric Nephrology, 2008, v. 23, n. 9, p. 1455, doi. 10.1007/s00467-008-0861-7
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- Article
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
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- 2011
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- Publication type:
- journal article
Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 38, doi. 10.1002/ajmg.a.33757
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- Publication type:
- Article