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

Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

(2014) Camille Humbert et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression

(2013) Valeska Frank et al.   HUMAN MOLECULAR GENETICS

An Approach to the Identification of Anomalies and Etiologies in Neonates with Identified or Suspected VACTERL (Vertebral Defects, Anal Atresia, Tracheo-Esophageal Fistula with Esophageal Atresia, Cardiac Anomalies, Renal Anomalies, and Limb Anomalies) Association

(2013) Benjamin D. Solomon et al.   JOURNAL OF PEDIATRICS

Laparoscopic Pyeloplasty in Children with Horseshoe Kidney

(2013) Thomas Blanc et al.   JOURNAL OF UROLOGY

Pathophysiology of childhood polycystic kidney diseases: new insights into disease-specific therapy

(2013) William E. Sweeney et al.   PEDIATRIC RESEARCH

Prune-Belly Syndrome: Case Series and Review of the Literature Regarding Early Prenatal Diagnosis, Epidemiology, Genetic Factors, Treatment, and Prognosis

(2012) Gabriele Tonni et al.   Fetal and Pediatric Pathology

Laparoscopic ureteropyeloanastomosis in the treatment of duplex system

(2012) Marcelo Hisano et al.   International Braz J Urol

NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski

(2011) Christian Thiel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Comparative Immunohistochemical Study of Multicystic Dysplastic Kidneys With and Without Obstruction

(2011) Claudia P. Rojas et al.   Fetal and Pediatric Pathology

Genetic Basis of Prune Belly Syndrome: Screening for HNF1β Gene

(2011) Candace F. Granberg et al.   JOURNAL OF UROLOGY

Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis

(2011) Pawaree Saisawat et al.   KIDNEY INTERNATIONAL

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

(2011) Erica E Davis et al.   NATURE GENETICS

VACTERL/VATER Association

(2011) Benjamin D Solomon   Orphanet Journal of Rare Diseases

Caudal dysgenesis and sirenomelia-single centre experience suggests common pathogenic basis

(2010) Anjana D. Thottungal et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations

(2010) Richard A. Oram et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Renal dysplasia and asplenia in two sibs

(2010) M. d‘A. Crawfurd   CLINICAL GENETICS

Clinical and molecular features of Joubert syndrome and related disorders

(2009) Melissa A. Parisi   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

CAUDAL DYSPLASIA SYNDROME AND SIRENOMELIA: ARE THEY PART OF A SPECTRUM?

(2009) Jocelyn H. Bruce et al.   Fetal and Pediatric Pathology

The nonmotile ciliopathies

(2009) Jonathan L Tobin et al.   GENETICS IN MEDICINE

In uteromanagement of fetal lower urinary tract obstruction with a novel shunt: A landmark development in fetal therapy

(2009) Ruben A. Quintero et al.   Journal of Maternal-Fetal & Neonatal Medicine

Vasopressin Antagonists in Polycystic Kidney Disease

(2008) Vicente E. Torres   SEMINARS IN NEPHROLOGY