Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans

Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes

(2013) L. Madariaga et al.   Clinical Journal of the American Society of Nephrology

Renal Hypodysplasia Associates with a Wnt4 Variant that Causes Aberrant Canonical Wnt Signaling

(2013) A. Vivante et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

TNXB Mutations Can Cause Vesicoureteral Reflux

(2013) R. A. Gbadegesin et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

(2013) Andrew Kirby et al.   NATURE GENETICS

Mutations in DSTYK and Dominant Urinary Tract Malformations

(2013) S. Sanna-Cherchi et al.   NEW ENGLAND JOURNAL OF MEDICINE

High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT

(2013) Burcu Bulum et al.   PEDIATRIC NEPHROLOGY

Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations

(2012) Simone Sanna-Cherchi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Novel genetic aspects of congenital anomalies of kidney and urinary tract

(2012) Stefanie Weber   CURRENT OPINION IN PEDIATRICS

FGF9 and FGF20 Maintain the Stemness of Nephron Progenitors in Mice and Man

(2012) Hila Barak et al.   DEVELOPMENTAL CELL

Six2 and Wnt Regulate Self-Renewal and Commitment of Nephron Progenitors through Shared Gene Regulatory Networks

(2012) Joo-Seop Park et al.   DEVELOPMENTAL CELL

Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations

(2012) Rajshekhar Chatterjee et al.   HUMAN GENETICS

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis

(2011) Olivier Gribouval et al.   HUMAN MUTATION

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

(2011) Matthew Bower et al.   HUMAN MUTATION

Morphogenesis and molecular mechanisms involved in human kidney development

(2011) Gavino Faa et al.   JOURNAL OF CELLULAR PHYSIOLOGY

RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects

(2011) C. Jeanpierre et al.   JOURNAL OF MEDICAL GENETICS

Genetics of vesicoureteral reflux

(2011) Prem Puri et al.   Nature Reviews Urology

CHD1L: a new candidate gene for congenital anomalies of the kidneys and urinary tract (CAKUT)

(2011) A. Brockschmidt et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT)

(2011) K. Y. Renkema et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort

(2011) Rosemary Thomas et al.   PEDIATRIC NEPHROLOGY

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

(2010) Daniel Moreno-De-Luca et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract

(2010) Stefania Gimelli et al.   HUMAN MUTATION

Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion

(2010) Chantal Loirat et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization

(2010) Stefanie Weber et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Advances in early kidney specification, development and patterning

(2009) G. R. Dressler   DEVELOPMENT

HNF1B Mutations Associate with Hypomagnesemia and Renal Magnesium Wasting

(2009) S. Adalat et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Hirschsprung Disease and Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)

(2009) Alessio Pini Prato et al.   MEDICINE

Functional analysis of BMP4 mutations identified in pediatric CAKUT patients

(2009) Mansoureh Tabatabaeifar et al.   PEDIATRIC NEPHROLOGY

Renal Aplasia in Humans Is Associated with RET Mutations

(2008) Michael A. Skinner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4

(2008) Hannah Mandel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

RET Gly691Ser mutation is associated with primary vesicoureteral reflux in the French-Canadian population from Quebec

(2008) Yaoming Yang et al.   HUMAN MUTATION

SIX2 and BMP4 Mutations Associate With Anomalous Kidney Development

(2008) S. Weber et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Genetic and developmental basis for urinary tract obstruction

(2008) Feng Chen   PEDIATRIC NEPHROLOGY

Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT)

(2008) Matthias T. F. Wolf et al.   PEDIATRIC NEPHROLOGY