X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (24) 24
mutation (16) 16
male (15) 15
female (14) 14
infant (14) 14
index medicus (13) 13
genetics & heredity (12) 12
child, preschool (11) 11
nephrotic syndrome (11) 11
nephrotic syndrome - genetics (11) 11
phenotype (11) 11
child (10) 10
pediatrics (9) 9
abnormalities, multiple - genetics (8) 8
animals (8) 8
gene (8) 8
infant, newborn (8) 8
membrane proteins - genetics (8) 8
health aspects (7) 7
homozygote (7) 7
syndrome (7) 7
genetics (6) 6
genotype (6) 6
intracellular signaling peptides and proteins - genetics (6) 6
mutations (6) 6
research (6) 6
urology & nephrology (6) 6
adolescent (5) 5
chromosome deletion (5) 5
cohort studies (5) 5
dna mutational analysis (5) 5
genes (5) 5
genetic aspects (5) 5
nphs2 (5) 5
podocin (5) 5
polymerase chain reaction (5) 5
smith-magenis syndrome (5) 5
wt1 (5) 5
wt1 proteins - genetics (5) 5
abnormalities, multiple - diagnosis (4) 4
children (4) 4
chromosomes, human, pair 17 (4) 4
gene mutations (4) 4
glomerular protein (4) 4
in situ hybridization, fluorescence (4) 4
intellectual disability - genetics (4) 4
laminin - genetics (4) 4
mice (4) 4
mutation - genetics (4) 4
nephrin (4) 4
nephrology (4) 4
nephrotic syndrome - congenital (4) 4
nephrotic syndrome - pathology (4) 4
risk factors (4) 4
cell biology (3) 3
cercopithecus aethiops (3) 3
cos cells (3) 3
disease (3) 3
exons (3) 3
families & family life (3) 3
family health (3) 3
focal segmental glomerulosclerosis (3) 3
genes, recessive (3) 3
genomes (3) 3
genomics (3) 3
heterozygote (3) 3
kidney diseases (3) 3
lamb2 (3) 3
medicine & public health (3) 3
methods (3) 3
models, genetic (3) 3
nphs1 (3) 3
prognosis (3) 3
proteins - genetics (3) 3
rats (3) 3
research article (3) 3
slit diaphragm (3) 3
smith–magenis syndrome (3) 3
transcription factors (3) 3
transplantation (3) 3
zoology (3) 3
17p11.2 (2) 2
17p11.2 deletion (2) 2
17p11.2 deletions (2) 2
adult (2) 2
amino acid sequence (2) 2
anatomy (2) 2
arrays (2) 2
article (2) 2
biology (2) 2
biopsy (2) 2
childhood (2) 2
chromosome 17 (2) 2
chromosome aberrations (2) 2
chromosomes, human, pair 17 - genetics (2) 2
circadian-rhythm (2) 2
cloning (2) 2
data processing (2) 2
diagnosis (2) 2
disease models, animal (2) 2
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


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
Nature Genetics, ISSN 1061-4036, 12/2006, Volume 38, Issue 12, pp. 1397 - 1405
Journal Article
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2003, Volume 79, Issue 2, pp. 134 - 141
Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation syndrome associated with an interstitial deletion of chromosome 17p11.2. SMS... 
Contiguous gene syndrome | Microdeletion syndrome | Homologous recombination | FISH | Low copy repeats | Chromosome 17 | Smith–Magenis syndrome | Smith-Magenis syndrome
Journal Article
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
Pediatrics, ISSN 0031-4005, 04/2007, Volume 119, Issue 4, p. E907
  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... 
Pediatrics | Genotype & phenotype | Nephrology | Genetic disorders | Genes | Families & family life | Mutation | Kidney diseases | Drug therapy | Children & youth | Steroids
Journal Article