scholarly article | Q13442814 |
P356 | DOI | 10.1155/2012/909083 |
P8608 | Fatcat ID | release_u4br2sekd5cwvfsatr62vnwbju |
P932 | PMC publication ID | 3363415 |
P698 | PubMed publication ID | 22685656 |
P5875 | ResearchGate publication ID | 225287872 |
P2093 | author name string | Ihor V Yosypiv | |
P2860 | cites work | Mortality and causes of death of end-stage renal disease in children: a Dutch cohort study | Q77647490 |
Angiotensin type 2 receptor is important in the normal development of the ureter | Q77827096 | ||
Genetic disorders of human congenital anomalies of the kidney and urinary tract (CAKUT) | Q79105221 | ||
Changing concepts in urological management of the congenital anomalies of kidney and urinary tract, CAKUT | Q79105232 | ||
Angiotensin-converting enzyme and angiotensin type 2 receptor gene genotype distributions in Italian children with congenital uropathies | Q80833383 | ||
Prenatal detection of congenital renal malformations by fetal ultrasonographic examination: an analysis of 709,030 births in 12 European countries | Q80959159 | ||
UK Renal Registry 11th Annual Report (December 2008): Chapter 13 Demography of the UK paediatric renal replacement therapy population | Q84097342 | ||
GATA3 haplo-insufficiency causes human HDR syndrome | Q22254758 | ||
Developmental roles of the histone lysine demethylases | Q22306162 | ||
The BRCT-domain containing protein PTIP links PAX2 to a histone H3, lysine 4 methyltransferase complex | Q24296996 | ||
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux | Q24300041 | ||
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy | Q24300810 | ||
Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study | Q24302641 | ||
A common variant of the PAX2 gene is associated with reduced newborn kidney size | Q24306420 | ||
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis | Q24317237 | ||
SIX2 and BMP4 mutations associate with anomalous kidney development | Q24318341 | ||
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family | Q24318377 | ||
Structure, sequence, and chromosome 19 localization of human USF2 and its rearrangement in a patient with multicystic renal dysplasia | Q24336039 | ||
SLIT2-mediated ROBO2 signaling restricts kidney induction to a single site | Q24338774 | ||
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy | Q24672705 | ||
Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformations | Q24673460 | ||
Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene | Q24677791 | ||
Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs | Q28245837 | ||
Rearrangement of the human CDC5L gene by a t(6;19)(p21;q13.1) in a patient with multicystic renal dysplasia | Q28271497 | ||
High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations | Q28296533 | ||
SIX1 acts synergistically with TBX18 in mediating ureteral smooth muscle formation. | Q28506036 | ||
Maternal diet programs embryonic kidney gene expression | Q28568400 | ||
Abnormal urethra formation in mouse models of split-hand/split-foot malformation type 1 and type 4 | Q28588793 | ||
Role of the hepatocyte nuclear factor-1beta (HNF-1beta) C-terminal domain in Pkhd1 (ARPKD) gene transcription and renal cystogenesis | Q28593483 | ||
Fibrocystin/polyductin modulates renal tubular formation by regulating polycystin-2 expression and function | Q28594258 | ||
Exome sequencing as a tool for Mendelian disease gene discovery | Q29615382 | ||
Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret | Q29620364 | ||
Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome. | Q30668630 | ||
The 1998 report of the Japanese National Registry data on pediatric end-stage renal disease patients | Q30702618 | ||
Epidemiology of chronic renal failure in children: data from the ItalKid project | Q30782955 | ||
Determining the incidence of horseshoe kidney from radiographic data at a single institution | Q30881766 | ||
Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the Renin-Angiotensin system | Q33247520 | ||
Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux | Q33562267 | ||
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies | Q33682550 | ||
Allelic variation in gene expression is common in the human genome | Q33682674 | ||
Organotypic specificity of key RET adaptor-docking sites in the pathogenesis of neurocristopathies and renal malformations in mice | Q33685678 | ||
A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta | Q33873845 | ||
Patterning a complex organ: branching morphogenesis and nephron segmentation in kidney development | Q33904019 | ||
Ablation of uroplakin III gene results in small urothelial plaques, urothelial leakage, and vesicoureteral reflux | Q33925813 | ||
Mutations in multiple PKD genes may explain early and severe polycystic kidney disease | Q34228262 | ||
Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. | Q34314263 | ||
Comparison between siblings and twins supports a role for modifier genes in ADPKD. | Q34371940 | ||
Modifier genes play a significant role in the phenotypic expression of PKD1. | Q34404836 | ||
Single-system ectopic ureter: a 15-year review | Q34451302 | ||
The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease | Q34600282 | ||
Both high and low maternal salt intake in pregnancy alter kidney development in the offspring. | Q34629282 | ||
A shifting paradigm: histone deacetylases and transcriptional activation | Q34725666 | ||
Chromatin-based mechanisms of renal epithelial differentiation | Q35108850 | ||
Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT) | Q35161865 | ||
Histone deacetylase (HDAC) activity is critical for embryonic kidney gene expression, growth, and differentiation. | Q35213401 | ||
Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway. | Q36158232 | ||
ROBO2 gene variants are associated with familial vesicoureteral reflux | Q36666892 | ||
Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease | Q36788898 | ||
Renal anomalies in families of individuals with congenital solitary kidney | Q36823414 | ||
A common RET variant is associated with reduced newborn kidney size and function | Q36906070 | ||
Renal abnormalities and their developmental origin | Q36945522 | ||
Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis | Q37330869 | ||
Radiographic manifestations of renal anomalies | Q37648041 | ||
Genetics of renal hypoplasia: insights into the mechanisms controlling nephron endowment | Q37737537 | ||
Genome-Wide Association Studies in Nephrology Research | Q37781545 | ||
Genetics of congenital anomalies of the kidney and urinary tract | Q37783542 | ||
Effect of drugs on renal development. | Q37808893 | ||
Renin-angiotensin system in ureteric bud branching morphogenesis: insights into the mechanisms | Q37848136 | ||
Environmental epigenetic transgenerational inheritance and somatic epigenetic mitotic stability | Q37884362 | ||
Renal aplasia in humans is associated with RET mutations | Q39141569 | ||
Common variants of the glial cell-derived neurotrophic factor gene do not influence kidney size of the healthy newborn | Q39888859 | ||
A transcriptional network in polycystic kidney disease | Q40775992 | ||
Familial unilateral renal agenesis and focal and segmental glomerulosclerosis | Q40912363 | ||
Unravelling the genetics of vesicoureteric reflux: a common familial disorder | Q40957103 | ||
Congenital genitourinary tract abnormalities following cocaine exposure in utero | Q40957224 | ||
Renal anomalies in fetal alcohol syndrome | Q41647335 | ||
Using mouse models to understand normal and abnormal urogenital tract development. | Q43158375 | ||
Mutations in hepatocyte nuclear factor-1beta and their related phenotypes | Q43167987 | ||
Corticosteroid-induced kidney dysmorphogenesis is associated with deregulated expression of known cystogenic molecules, as well as Indian hedgehog | Q43223388 | ||
Expression profiling of the AT2R mRNA in affected tissue from children with CAKUT. | Q43475985 | ||
De novo HNF-1 beta gene mutation in familial hypoplastic glomerulocystic kidney disease | Q44246314 | ||
Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease | Q44411513 | ||
Congenital hydronephrosis: prenatal diagnosis and epidemiology in Europe. | Q46013677 | ||
Missense mutations in EYA1 and TCF2 are a rare cause of urinary tract malformations | Q46861335 | ||
Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort | Q46863377 | ||
Screening for mutations in BMP4 and FOXC1 genes in congenital anomalies of the kidney and urinary tract in humans | Q47847036 | ||
Bradykinin B2 null mice are prone to renal dysplasia: gene-environment interactions in kidney development. | Q52164811 | ||
No evidence for AT2R gene derangement in human urinary tract anomalies. | Q52542599 | ||
Implication of genetic variations in congenital obstructive nephropathy. | Q52566089 | ||
HNF1B alterations associated with congenital anomalies of the kidney and urinary tract. | Q54441396 | ||
Low renin-angiotensin system activity gene polymorphism and dysplasia associated with posterior urethral valves. | Q54654757 | ||
PAX2mutations in fetal renal hypodysplasia | Q57199597 | ||
Dominantly inherited renal adysplasia | Q57752676 | ||
Immature Renal Structures Associated With a Novel UMOD Sequence Variant | Q57980322 | ||
Vesicoureteral Reflux | Q59167749 | ||
Genotype–phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease | Q59619315 | ||
Role of the Angiotensin Type 2 Receptor Gene in Congenital Anomalies of the Kidney and Urinary Tract, CAKUT, of Mice and Men | Q63951732 | ||
Familial renal adysplasia | Q68025190 | ||
Infundibulopelvic stenosis, multicystic kidney, and calyectasis in a kindred: clinical observations and genetic analysis | Q70969757 | ||
Analysis of hypertension in children post renal transplantation--a report of the North American Pediatric Renal Transplant Cooperative Study (NAPRTCS) | Q72403150 | ||
Maternal protein restriction suppresses the newborn renin-angiotensin system and programs adult hypertension in rats | Q73662634 | ||
Congenitally small kidneys with reflux as a common cause of nephropathy in boys | Q73683777 | ||
P275 | copyright license | Creative Commons Attribution 3.0 Unported | Q14947546 |
P6216 | copyright status | copyrighted | Q50423863 |
P921 | main subject | congenital disorder | Q727096 |
P304 | page(s) | 909083 | |
P577 | publication date | 2012-05-20 | |
P1433 | published in | International Journal of Nephrology | Q26842036 |
P1476 | title | Congenital anomalies of the kidney and urinary tract: a genetic disorder? | |
P478 | volume | 2012 |
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Q33858105 | The prevalence and epidemiology of genetic renal disease amongst adults with chronic kidney disease in Australia. |
Q38445316 | Transcriptome-wide based identification of miRs in congenital anomalies of the kidney and urinary tract (CAKUT) in children: the significant upregulation of tissue miR-144 expression. |
Q38703307 | Whole exome sequencing: a state-of-the-art approach for defining (and exploring!) genetic landscapes in pediatric nephrology |
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