Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract
Top Cited Papers
- 1 June 2014
- journal article
- Published by Elsevier BV in Kidney International
- Vol. 85 (6), 1429-1433
- https://doi.org/10.1038/ki.2013.508
Abstract
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This publication has 46 references indexed in Scilit:
- Copy-Number Disorders Are a Common Cause of Congenital Kidney MalformationsAmerican Journal of Human Genetics, 2012
- Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale ResequencingAmerican Journal of Human Genetics, 2012
- FGF9 and FGF20 Maintain the Stemness of Nephron Progenitors in Mice and ManDevelopmental Cell, 2012
- HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohortPediatric Nephrology, 2011
- Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tractHuman Mutation, 2010
- Genetic kidney diseasesThe Lancet, 2010
- Genetic and developmental basis for urinary tract obstructionPediatric Nephrology, 2009
- Renal Aplasia in Humans Is Associated with RET MutationsAmerican Journal of Human Genetics, 2008
- Genetic approaches to human renal agenesis/hypoplasia and dysplasiaPediatric Nephrology, 2007
- GATA3 haplo-insufficiency causes human HDR syndromeNature, 2000