ReviewPediatric nephrology (Berlin, Germany)2010
Renal malformations associated with mutations of developmental genes: messages from the clinic.
Review in Pediatric nephrology (Berlin, Germany), 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
22 citing papers in PubMed, 40 citations in OpenAlex.
- High-throughput transcriptomic screening reveals entrectinib as a repositioning opportunity in 19q12 autism spectrum disorder.Scientific reports · 2025Article
- Heterozygous variants in the teashirt zinc finger homeobox 3 (TSHZ3) gene in human congenital anomalies of the kidney and urinary tract.European journal of human genetics : EJHG · 2025Article
- Review
- Definition, diagnosis and clinical management of non-obstructive kidney dysplasia: a consensus statement by the ERKNet Working Group on Kidney Malformations.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2022Article
- AGenes · 2022Article
- Building human renal tracts.Journal of pediatric surgery · 2022Review
- Review
- Role of Actionable Genes in Pursuing a True Approach of Precision Medicine in Monogenic Diabetes.Genes · 2022Review
- Hyperuricemia Is an Early and Relatively Common Feature in Children withJournal of clinical medicine · 2021Article
- Hypomagnesemia is underestimated in children with HNF1B mutations.Pediatric nephrology (Berlin, Germany) · 2020Article
- Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects.Clinical epigenetics · 2017Article
- TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons.Nature genetics · 2016Article
- HNF1B-associated clinical phenotypes: the kidney and beyond.Pediatric nephrology (Berlin, Germany) · 2016Review
- From gene discovery to new biological mechanisms: heparanases and congenital urinary bladder disease.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2016Review
- A predictive model of chronic kidney disease in patients with congenital anomalies of the kidney and urinary tract.Pediatric nephrology (Berlin, Germany) · 2014Article
- Genetics of human congenital urinary bladder disease.Pediatric nephrology (Berlin, Germany) · 2014Review
- Environmental factors for the development of fetal urinary malformations.World journal of pediatrics : WJP · 2014Review
- The blind kidney: disorders affecting kidneys and eyes.Pediatric nephrology (Berlin, Germany) · 2013Review
- Congenital anomalies of kidney and hand: a review.Clinical kidney journal · 2013Article
- LRIG2 mutations cause urofacial syndrome.American journal of human genetics · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Renal tract malformations (RTMs) account for about 40% of children with end-stage renal failure. RTMs can be caused by mutations of genes normally active in the developing kidney and lower renal tract. Moreover, some RTMs occur in the context of multi-organ malformation syndromes. For these reasons, and because genetic testing is becoming more widely available, pediatric nephrologists should work closely with clinical geneticists to make genetic diagnoses in children with RTMs, followed by appropriate family counseling. Here we highlight families with renal cysts and diabetes, renal coloboma and Fraser syndromes, and a child with microdeletion of chromosome 19q who had a rare combination of malformations. Such diagnoses provide families with often long-sought answers to the question "why was our child born with kidney disease". Precise genetic diagnoses will also help to define cohorts of children with RTMs for long-term clinical outcome studies.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.