X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (18) 18
index medicus (15) 15
male (14) 14
female (13) 13
adult (9) 9
mutation (9) 9
animals (8) 8
genetics & heredity (8) 8
urology & nephrology (8) 8
adolescent (7) 7
pedigree (7) 7
child (6) 6
genetic aspects (6) 6
mice (6) 6
middle aged (6) 6
nephrotic syndrome (6) 6
phenotype (6) 6
research (6) 6
gene mutations (5) 5
genetics (5) 5
identification (5) 5
iv collagen (5) 5
kidney (5) 5
life sciences (5) 5
cell line (4) 4
chain (4) 4
exons (4) 4
expression (4) 4
gene expression (4) 4
genomics (4) 4
heterozygote (4) 4
kidney diseases (4) 4
mutation - genetics (4) 4
nephrin (4) 4
nephritis, hereditary - genetics (4) 4
nephrology (4) 4
podocytes - metabolism (4) 4
protein transport (4) 4
proteins (4) 4
slit diaphragm (4) 4
aged (3) 3
biochemistry & molecular biology (3) 3
collagen type iv - genetics (3) 3
domain (3) 3
focal segmental glomerulosclerosis (3) 3
gene (3) 3
genes (3) 3
haplotypes (3) 3
homozygote (3) 3
intracellular signaling peptides and proteins - genetics (3) 3
intracellular signaling peptides and proteins - metabolism (3) 3
membrane proteins - genetics (3) 3
membrane proteins - metabolism (3) 3
mutation, missense (3) 3
nephrotic syndrome - genetics (3) 3
podocytes - pathology (3) 3
polymerase chain reaction (3) 3
research article (3) 3
[ sdv.bbm.gtp ] life sciences [q-bio]/biochemistry, molecular biology/genomics [q-bio.gn] (2) 2
[sdv.bbm.gtp]life sciences [q-bio]/biochemistry, molecular biology/genomics [q-bio.gn] (2) 2
abridged index medicus (2) 2
alleles (2) 2
alpha-5 (2) 2
alport syndrome (2) 2
amino acid substitution (2) 2
amino acids (2) 2
analysis (2) 2
basement-membrane collagen (2) 2
biochemistry, molecular biology (2) 2
cell line, transformed (2) 2
complications and side effects (2) 2
coronary artery disease (2) 2
cytoplasm (2) 2
diffuse mesangial sclerosis (2) 2
disease (2) 2
disease models, animal (2) 2
dna mutational analysis (2) 2
drosophila melanogaster (2) 2
drosophila proteins - genetics (2) 2
exome - genetics (2) 2
genes, dominant (2) 2
genes, recessive (2) 2
genetic counseling (2) 2
genetic linkage (2) 2
genetic research (2) 2
genetic testing (2) 2
genotype & phenotype (2) 2
glomerulus (2) 2
hematuria - genetics (2) 2
immunohistochemistry (2) 2
insects (2) 2
intracellular signaling peptides and proteins - chemistry (2) 2
kidney diseases - genetics (2) 2
kidneys (2) 2
medicine (2) 2
membrane proteins - chemistry (2) 2
mice, knockout (2) 2
microencephaly (2) 2
models, molecular (2) 2
molecular sequence data (2) 2
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
Human Mutation, ISSN 1059-7794, 02/2012, Volume 33, Issue 2, pp. 316 - 326
Journal Article
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 3, pp. 299 - 304
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 12/2011, Volume 365, Issue 25, pp. 2377 - 2388
The authors report that INF2 mutations are present in patients with focal segmental glomerulosclerosis (FSGS) associated with Charcot–Marie–Tooth neuropathy.... 
GLOMERULOSCLEROSIS | MEDICINE, GENERAL & INTERNAL | MYELIN | PROTEIN | NEUROPATHY | EPITHELIAL-CELLS | GENE | RHO | MEDIATED TRANSPORT | FORMIN | NEPHROPATHY | Humans | Middle Aged | Proteolipids - metabolism | Actins - metabolism | Male | Charcot-Marie-Tooth Disease - genetics | Young Adult | Kidney - metabolism | Glomerulosclerosis, Focal Segmental - etiology | Myelin and Lymphocyte-Associated Proteolipid Proteins | Adult | Female | Membrane Transport Proteins - metabolism | Microfilament Proteins - metabolism | Child | Microfilament Proteins - genetics | Charcot-Marie-Tooth Disease - complications | Schwann Cells - metabolism | Phenotype | Animals | Adolescent | Age of Onset | Heterozygote | Mice | Mutation | Myelin Proteins - metabolism | Glomerulonephritis | Gene mutations | Charcot-Marie-Tooth disease | Causes of | Genetic aspects | Research | Myelin proteins | Cdc42 protein | Disease | Exons | Genes | Amino acids | Nervous system | Neuropathy | Guanine nucleotide-binding protein | Proteins | Myelin P0 protein | Localization | Peripheral myelin protein 22 | Deoxyribonucleic acid--DNA | Kidneys | Schwann cells | Polymerization | Myelination | Genotyping | Biopsy | Glomerulus | Cytoskeleton | Genetic testing | Cytoplasm | Guanosinetriphosphatase | Schwann Cells | Genomics | Kidney | Charcot-Marie-Tooth Disease | Life Sciences | Proteolipids | Biochemistry, Molecular Biology | Actins | Microfilament Proteins | Membrane Transport Proteins | Myelin Proteins | Glomerulosclerosis, Focal Segmental
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 03/2017, Volume 127, Issue 3, pp. 912 - 928
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 803 - 814
Journal Article
PLoS Genetics, ISSN 1553-7390, 05/2018, Volume 14, Issue 5, p. e1007386
Journal Article
Biophysical Journal, ISSN 0006-3495, 02/2018, Volume 114, Issue 3, pp. 60a - 60a
Journal Article
Nephrology Dialysis Transplantation, ISSN 0931-0509, 05/2016, Volume 31, Issue suppl_1, pp. i353 - i353
Journal Article