X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (187) 187
male (93) 93
female (88) 88
mutation (67) 67
index medicus (66) 66
nephritis, hereditary - genetics (66) 66
urology & nephrology (65) 65
genes, recessive (64) 64
child (55) 55
pedigree (54) 54
genetics & heredity (51) 51
adult (50) 50
identification (49) 49
alport syndrome (44) 44
mutations (43) 43
animals (42) 42
iv collagen (40) 40
recessive alport-syndrome (40) 40
adolescent (39) 39
collagen type iv - genetics (37) 37
genetic aspects (35) 35
recessive alport syndrome (35) 35
middle aged (34) 34
child, preschool (32) 32
genetic linkage (32) 32
phenotype (28) 28
gene (26) 26
hematuria - genetics (24) 24
molecular sequence data (23) 23
collagen - genetics (22) 22
autoantigens - genetics (21) 21
autosomal-dominant (21) 21
benign familial hematuria (21) 21
genes (21) 21
mice (21) 21
base sequence (20) 20
biochemistry & molecular biology (20) 20
dna mutational analysis (20) 20
genes, dominant (20) 20
kidney diseases - genetics (20) 20
collagen (19) 19
deafness (19) 19
focal segmental glomerulosclerosis (19) 19
genetics (19) 19
nephritis, hereditary - diagnosis (19) 19
aged (18) 18
deafness - genetics (18) 18
disease (18) 18
syndrome (18) 18
col4a3 (17) 17
genotype (17) 17
hearing loss, sensorineural - genetics (17) 17
infant (17) 17
pediatrics (17) 17
analysis (16) 16
hematuria (16) 16
kidney diseases (16) 16
nephrology (16) 16
otorhinolaryngology (16) 16
renal-failure (16) 16
cell biology (15) 15
chromosome mapping (15) 15
genetic testing (15) 15
heterozygote (15) 15
nephropathy (15) 15
research (15) 15
basement-membrane nephropathy (14) 14
diagnosis (14) 14
hereditary nephritis (14) 14
autosomal recessive (13) 13
basement membrane - pathology (13) 13
biopsy (13) 13
col4a4 (13) 13
expression (13) 13
hearing loss (13) 13
recessive deafness (13) 13
disease models, animal (12) 12
genetic predisposition to disease (12) 12
glomerular-basement-membrane (12) 12
kidney glomerulus - pathology (12) 12
nephritis, hereditary - pathology (12) 12
article (11) 11
basement membrane (11) 11
genetic disorders (11) 11
genetic research (11) 11
glomerular basement membrane (11) 11
glomerulosclerosis, focal segmental - genetics (11) 11
mutation - genetics (11) 11
x chromosome (11) 11
amino acid sequence (10) 10
chain (10) 10
children (10) 10
col4a5 collagen gene (10) 10
consanguinity (10) 10
diseases (10) 10
gene expression (10) 10
gene mutations (10) 10
genes, recessive - genetics (10) 10
hearing loss - genetics (10) 10
infant, newborn (10) 10
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Nephron, ISSN 1660-8151, 11/2019, Volume 143, Issue 4, pp. 288 - 292
Alport syndrome is a hereditary disease affecting Type IV collagen characterized by hematuria, progressive renal failure, sensorineural hearing loss, and... 
Experimental Nephrology and Genetics: Case Study of Genetic Interest | Pregnancy | WOMEN | BASEMENT-MEMBRANE NEPHROPATHY | COL4A3 | GENES | Autosomal recessive Alport syndrome | COL4A3/COL4A4 MUTATIONS | UROLOGY & NEPHROLOGY | IDENTIFICATION | FOCAL SEGMENTAL GLOMERULOSCLEROSIS
Journal Article
Journal Article
JOURNAL OF CLINICAL MEDICINE, ISSN 2077-0383, 02/2019, Volume 8, Issue 2, p. 178
Alport syndrome (AS) is one of the most frequent hereditary nephritis leading to end-stage renal disease (ESRD). Although X-linked (XLAS) inheritance is the... 
DIAGNOSIS | GENOTYPE-PHENOTYPE CORRELATIONS | MEMBRANE | MACROSCOPIC HEMATURIA | CLINICAL-FEATURES | systematic review | NATURAL-HISTORY | FAMILIAL HEMATURIA | COL4A3 gene | mutation | MEDICINE, GENERAL & INTERNAL | Alport syndrome | COL4A4 gene | MUTATIONS | autosomal recessive inheritance | CHINESE PATIENTS
Journal Article
by Sun, HL and Yu, XW and Li, SM and Xu, H and Yang, J and Yi, TG and Han, PG and Shao, MM
INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY, ISSN 1936-2625, 2019, Volume 12, Issue 9, pp. 3565 - 3569
Alport syndrome (AS) is a familial hereditary nephropathy which is characterized by molecular abnormalities in Collagen IV a345. As more gene mutations are... 
PATHOLOGY | ONCOLOGY | autosomal recessive | COL4A4 mutation | Alport syndrome
Journal Article
Journal of Obstetrics and Gynaecology Research, ISSN 1341-8076, 03/2016, Volume 42, Issue 3, pp. 331 - 335
We describe the course of pregnancy in a 27‐year‐old woman with homozygous autosomal recessive Alport syndrome. Genetic analysis revealed a homozygous COL4A4... 
nephrosis | Col4a4 | gene mutation | autosomal recessive | Alport syndrome | pregnancy | KIDNEY-DISEASE | WOMEN | OBSTETRICS & GYNECOLOGY | Pregnancy | Humans | Pregnancy Complications | Adult | Female | Nephritis, Hereditary | Pregnancy Outcome | Pregnant women | Analysis
Journal Article
Human Mutation, ISSN 1059-7794, 07/2005, Volume 26, Issue 1, pp. 60 - 60
Journal Article
Zhonghua er ke za zhi = Chinese journal of pediatrics, ISSN 0578-1310, 09/2015, Volume 53, Issue 9, p. 712
Journal Article
Genetic Testing and Molecular Biomarkers, ISSN 1945-0265, 03/2013, Volume 17, Issue 3, pp. 26 - 264
Background: Alport syndrome (AS) is a genetically heterogeneous disorder that is characterized by hematuria, progressive renal failure typically resulting in... 
Short Reports | HETEROGENEITY | POLYMORPHISMS | MESSENGER-RNA | COLLAGEN GENE | BASEMENT-MEMBRANE NEPHROPATHY | GENETICS & HEREDITY | COL4A3/COL4A4 MUTATIONS | RENAL-FAILURE | DOMINANT | HEMATURIA | IDENTIFICATION | Turkey | Pedigree | Humans | Collagen Type IV - genetics | Nephritis, Hereditary - genetics | Adult | Female | Genotype | Male | Mutation | Autoantigens - genetics | Genes, Recessive
Journal Article
Zhonghua er ke za zhi. Chinese journal of pediatrics, ISSN 0578-1310, 02/2015, Volume 53, Issue 2, pp. 114 - 118
To analyze the clinical features and gene mutation of Chinese children with Alport syndrome(AS). From May 2011 to May 2014, clinical and pathological... 
Deafness | Phenotype | Nephritis, Hereditary - pathology | Hematuria | Pedigree | Humans | Nephritis, Hereditary - genetics | Genotype | Mutation | Child | Genes, Recessive | Kidney
Journal Article
Journal Article
No results were found for your search.

Cannot display more than 1000 results, please narrow the terms of your search.