X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (28) 28
humans (26) 26
female (20) 20
male (20) 20
mutation (17) 17
heart defects, congenital - genetics (11) 11
animals (10) 10
esophagus - abnormalities (10) 10
mice (10) 10
spine - abnormalities (10) 10
trachea - abnormalities (10) 10
anal canal - abnormalities (9) 9
genetics & heredity (9) 9
kidney - abnormalities (9) 9
limb deformities, congenital - genetics (9) 9
analysis (8) 8
article (8) 8
genes (8) 8
risk factors (8) 8
anus, imperforate - genetics (7) 7
genetic disorders (7) 7
pediatrics (7) 7
radius - abnormalities (7) 7
vater association (7) 7
abnormalities (6) 6
defects (6) 6
genetic aspects (6) 6
phenotype (6) 6
vacterl association (6) 6
vacterl-association (6) 6
vater (6) 6
vesico-ureteral reflux - genetics (6) 6
abnormalities, multiple - genetics (5) 5
adolescent (5) 5
adult (5) 5
child (5) 5
developmental biology (5) 5
disease (5) 5
genetic research (5) 5
genetics (5) 5
heart defects, congenital - diagnosis (5) 5
malformations (5) 5
mutations (5) 5
pedigree (5) 5
renal agenesis (5) 5
transcription factors - genetics (5) 5
urogenital abnormalities (5) 5
urology & nephrology (5) 5
vater/vacterl association (5) 5
congenital-anomalies (4) 4
deletion (4) 4
dna mutational analysis (4) 4
genetic predisposition to disease (4) 4
genetic testing - methods (4) 4
heterozygote (4) 4
high-throughput nucleotide sequencing (4) 4
identification (4) 4
limb deformities, congenital - diagnosis (4) 4
medicine, research & experimental (4) 4
predictive value of tests (4) 4
pregnancy (4) 4
research (4) 4
sequence analysis, dna (4) 4
surgery (4) 4
variants (4) 4
anomalies (3) 3
anorectal malformation (3) 3
anorectal malformations (3) 3
anus, imperforate - pathology (3) 3
association (3) 3
cakut (3) 3
child, preschool (3) 3
chromosomal microarray (3) 3
chromosomes (3) 3
cnv analysis (3) 3
congenital defects (3) 3
congenital diseases (3) 3
diagnosis (3) 3
dna copy number variations (3) 3
esophagus (3) 3
expression (3) 3
fistulae (3) 3
gene (3) 3
gene expression regulation, developmental (3) 3
genetic renal disease (3) 3
genomics (3) 3
heterotaxy (3) 3
hsp90 heat-shock proteins - genetics (3) 3
infant, newborn (3) 3
karyotyping - methods (3) 3
medicine & public health (3) 3
multiplex polymerase chain reaction (3) 3
phenotypes (3) 3
prenatal-diagnosis (3) 3
renal development (3) 3
snp array (3) 3
spectrum (3) 3
studies (3) 3
tracheoesophageal fistula (3) 3
vesicoureteral reflux (3) 3
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Birth Defects Research Part A: Clinical and Molecular Teratology, ISSN 1542-0752, 08/2016, Volume 106, Issue 8, pp. 724 - 728
Journal Article
Pediatric Nephrology, ISSN 0931-041X, 11/2016, Volume 31, Issue 11, pp. 2025 - 2033
The acronym VATER/VACTERL association (OMIM #192350) refers to the rare non-random co-occurrence of the following component features (CFs): vertebral defects... 
Pediatrics | Nephrology | Association | Medicine & Public Health | Renal | VACTERL | Genetics | VATER | Urology | renal | association | genetics
Journal Article
Kidney International, ISSN 0085-2538, 06/2014, Volume 85, Issue 6, pp. 1429 - 1433
Congenital anomalies of the kidney and urinary tract (CAKUT) account for approximately half of children with chronic kidney disease. CAKUT can be caused by... 
renal development | renal agenesis | genetic renal disease | CAKUT | PREVALENCE | HEPATOCYTE NUCLEAR FACTOR-1-BETA | VESICOURETERAL REFLUX | ADYSPLASIA | RENAL-COLOBOMA SYNDROME | MALFORMATIONS | UROLOGY & NEPHROLOGY | PAX2 MUTATIONS | TCF2 | HYPODYSPLASIA
Journal Article
Journal of the American Society of Nephrology : JASN, ISSN 1046-6673, 09/2014, Volume 25, Issue 9, pp. 1917 - 1922
Journal Article
Human Genetics, ISSN 0340-6717, 08/2015, Volume 134, Issue 8, pp. 905 - 916
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 03/2016, Volume 101, Issue 3, pp. 898 - 904
Journal Article
Human Mutation, ISSN 1059-7794, 12/2015, Volume 36, Issue 12, pp. 1150 - 1154
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2019, Volume 104, Issue 5, pp. 994 - 1006
Journal Article
Journal Article
Kidney international, 06/2014, Volume 85, Issue 6, p. 1429
Congenital anomalies of the kidney and urinary tract (CAKUT) account for approximately half of children with chronic kidney disease. CAKUT can be caused by... 
Predictive Value of Tests | Vesico-Ureteral Reflux - genetics | Genetic Predisposition to Disease | Humans | Risk Factors | Urogenital Abnormalities | Male | Heredity | Genetic Testing - methods | Phenotype | Genes, Dominant | DNA Mutational Analysis | Pedigree | Female | Heterozygote | Mutation
Journal Article
LUTS: Lower Urinary Tract Symptoms, ISSN 1757-5664, 04/2019, Volume 11, Issue 2, pp. O85 - O88
Objective The aim of the present study was to investigate genetic effects in the formation of congenital lower urinary tract obstruction (LUTO) comprising... 
twin study | lower urinary tract obstruction (LUTO) | posterior urethral valves | DISCORDANT | MANAGEMENT | ANOMALIES | UROLOGY & NEPHROLOGY | BLADDER | FETAL URINE | PRENATAL-DIAGNOSIS | Analysis | Genetic disorders
Journal Article