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Journal of Clinical Investigation, ISSN 0021-9738, 08/2013, Volume 123, Issue 8, pp. 3243 - 3253
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 05/2011, Volume 121, Issue 5, pp. 2013 - 2024
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of end-stage renal failure. Identification of single-gene causes of SRNS has generated some... 
MEDICINE, RESEARCH & EXPERIMENTAL | OXIDATIVE STRESS | GENE | COENZYME-Q BIOSYNTHESIS | DIPHOSPHATE SYNTHASE SUBUNIT-2 | NPHS2 | GLOMERULAR PROTEIN | UBIQUINONE BIOSYNTHESIS | COQ DEFICIENCY | FOCAL SEGMENTAL GLOMERULOSCLEROSIS | SACCHAROMYCES-CEREVISIAE | Deafness | Gene mutations | Genetic aspects | Nephrotic syndrome | Research | Health aspects | Risk factors
Journal Article
Journal Article
Clinical Journal of the American Society of Nephrology, ISSN 1555-9041, 09/2010, Volume 5, Issue 9, pp. 1655 - 1662
Journal Article
Journal Article
JACC (Journal of the American College of Cardiology), ISSN 0735-1097, 2013, Volume 61, Issue 10, pp. E467 - E467
  While valuable in other settings, unadjusted 30 day mortality may not be nearly as useful a quality metric for patients with congenital heart disease... 
Cardiovascular | Internal Medicine | Cardiovascular disease | Intubation | Cardiology | Heart surgery | Mortality | Catheters
Journal Article
Journal of the American Society of Nephrology, ISSN 1046-6673, 10/2011, Volume 22, Issue 10, pp. 1815 - 1820
In two siblings of consanguineous parents with intermittent nephrotic-range proteinuria, we identified a homozygous deleterious frameshift mutation in the gene... 
UROLOGY & NEPHROLOGY | LINKAGE ANALYSIS | IMERSLUND-GRASBECK-SYNDROME | NEPHROTIC SYNDROME | NEPHROPATHY | CAPTURE | DEFICIENCY | Exome | Homozygote | Frameshift Mutation | Humans | Proteinuria - genetics | Genes, Recessive | Receptors, Cell Surface - genetics | Brief Communications
Journal Article
Nephrology Dialysis Transplantation, ISSN 0931-0509, 09/2010, Volume 25, Issue 9, pp. 2970 - 2976
Background. Recessive mutations in the NPHS1 gene encoding nephrin account for similar to 40% of infants with congenital nephrotic syndrome (CNS). CNS is... 
NPHS1 | mutation analysis | nephrotic syndrome | GENE | STEROID-RESISTANT | SLIT DIAPHRAGM | NEPHRIN | WT1 | UROLOGY & NEPHROLOGY | TRANSPLANTATION | Original
Journal Article
Catheterization and Cardiovascular Interventions, ISSN 1522-1946, 01/2015, Volume 85, Issue 1, pp. 104 - 110
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 08/2013, Volume 123, Issue 8, pp. 3243 - 3243
Nephrotic syndrome (NS) is divided into steroid-sensitive (SSNS) and -resistant (SRNS) variants. SRNS causes end-stage kidney disease, which cannot be cured.... 
Journal Article
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 09/2010, Volume 25, Issue 9, p. 2970
Recessive mutations in the NPHS1 gene encoding nephrin account for approximately 40% of infants with congenital nephrotic syndrome (CNS). CNS is defined as... 
Prognosis | Global Health | Membrane Proteins - genetics | Humans | Nephrotic Syndrome - pathology | Exons - genetics | Genotype | Infant | Male | Nephrotic Syndrome - genetics | Mutation - genetics | Nephrotic Syndrome - congenital | Homozygote | Phenotype | Family | Female | Heterozygote | Infant, Newborn | Cohort Studies
Journal Article
The Journal of clinical investigation, 05/2011, Volume 121, Issue 5, p. 2013
Journal Article
Nephrology, Dialysis, Transplantation, ISSN 0931-0509, 01/2010, Volume 25, Issue 9, pp. 2970 - 2976
BACKGROUND: Recessive mutations in the NPHS1 gene encoding nephrin account for similar to 40% of infants with congenital nephrotic syndrome (CNS). CNS is... 
Journal Article
Nephrology, Dialysis, Transplantation, ISSN 0931-0509, 01/2010, Volume 25, Issue 9, pp. 2970 - 2976
BACKGROUND: Recessive mutations in the NPHS1 gene encoding nephrin account for similar to 40% of infants with congenital nephrotic syndrome (CNS). CNS is... 
Journal Article
PLoS Genetics, ISSN 1553-7390, 01/2009, Volume 5, Issue 1
  The identification of recessive disease-causing genes by homozygosity mapping is often restricted by lack of suitable consanguineous families. To overcome... 
Haplotypes | Pediatrics | Parents & parenting | Genes | Families & family life | Genetics | Genomes | Mutation | Arrays
Journal Article
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