Prenatal genetic considerations of congenital anomalies of the kidney and urinary tract (CAKUT)

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study

(2019) Slavé Petrovski et al.   LANCET

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

(2019) Jenny Lord et al.   LANCET

Targeted gene sequencing and whole-exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies

(2018) M. Rasmussen et al.   CLINICAL GENETICS

Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease

(2018) Kathrin Burgmaier et al.   JOURNAL OF PEDIATRICS

Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses

(2018) Carsten Bergmann   Frontiers in Pediatrics

Diagnosis of tuberous sclerosis complex in the fetus

(2018) Pinelopi Dragoumi et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Recent advances in the molecular diagnosis of polycystic kidney disease

(2017) Carsten Bergmann   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

(2017) Sarah Boissel et al.   GENETICS IN MEDICINE

Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play

(2017) Valentina Capone et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Evidence-based, ethically justified counseling for fetal bilateral renal agenesis

(2017) Alana N. Thomas et al.   JOURNAL OF PERINATAL MEDICINE

Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract

(2017) Ting-ying Lei et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Promises, pitfalls and practicalities of prenatal whole exome sequencing

(2017) Sunayna Best et al.   PRENATAL DIAGNOSIS

Hereditary Renal Cystic Disorders: Imaging of the Kidneys and Beyond

(2017) Jonathan R. Dillman et al.   RADIOGRAPHICS

Hereditary Renal Diseases

(2017) Lakshmi Mehta et al.   SEMINARS IN NEPHROLOGY

Fetal megacystis: A systematic review

(2017) K. Taghavi et al.   Journal of Pediatric Urology

Regional initiatives for malaria elimination: Building and maintaining partnerships

(2017) Andrew A. Lover et al.   PLOS MEDICINE

Autosomal Dominant Polycystic Kidney Disease: Core Curriculum 2016

(2016) Fouad T. Chebib et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL): Report of two additional patients

(2016) Ranad Shaheen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Recent advances in autosomal-dominant polycystic kidney disease

(2016) G. K. Rangan et al.   INTERNAL MEDICINE JOURNAL

Kidney Disease Progression in Autosomal Recessive Polycystic Kidney Disease

(2016) Katherine M. Dell et al.   JOURNAL OF PEDIATRICS

KHA-CARI guideline recommendations for the diagnosis and management of autosomal dominant polycystic kidney disease

(2016) Gopala K Rangan et al.   NEPHROLOGY

Underlying genetic factors of the VATER/VACTERL association with special emphasis on the “Renal” phenotype

(2016) Heiko Reutter et al.   PEDIATRIC NEPHROLOGY

Two-year outcomes after diagnostic and therapeutic fetal cystoscopy for lower urinary tract obstruction

(2016) Nicolas Sananes et al.   PRENATAL DIAGNOSIS

Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases

(2016) Aude Tessier et al.   PRENATAL DIAGNOSIS

Genetic Basis of Posterior Urethral Valves Inheritance

(2016) Cinzia Chiaramonte et al.   UROLOGY

Nephronophthisis and related syndromes

(2015) Matthias T.F. Wolf   CURRENT OPINION IN PEDIATRICS

Autosomal dominant polycystic kidney disease: the changing face of clinical management

(2015) Albert C M Ong et al.   LANCET

Common Genetic and Epigenetic Syndromes

(2015) Darius J. Adams et al.   PEDIATRIC CLINICS OF NORTH AMERICA

Autosomal Dominant Polycystic Kidney Disease: A Path Forward

(2015) Gopala K. Rangan et al.   SEMINARS IN NEPHROLOGY

KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Genetic Testing for Diagnosis

(2015) Michel Tchan et al.   SEMINARS IN NEPHROLOGY

Ultrasound diagnosis of fetal renal abnormalities

(2014) Tiran Dias et al.   BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY

Congenital anomalies of the kidney and urinary tract: An embryogenetic review

(2014) Augusto Cesar Soares dos Santos Junior et al.   BIRTH DEFECTS RESEARCH PART C-EMBRYO TODAY-REVIEWS

Neonatal Polycystic Kidney Disease

(2014) Priya Verghese et al.   CLINICS IN PERINATOLOGY

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

(2014) Maria M. Rodriguez   Fetal and Pediatric Pathology

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: Case Report and Review of Prenatal Ultrasonographic Findings

(2014) Lea Tuzovic et al.   FETAL DIAGNOSIS AND THERAPY

Consensus Expert Recommendations for the Diagnosis and Management of Autosomal Recessive Polycystic Kidney Disease: Report of an International Conference

(2014) Lisa M. Guay-Woodford et al.   JOURNAL OF PEDIATRICS

Predictors of Autosomal Dominant Polycystic Kidney Disease Progression

(2014) R. W. Schrier et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract

(2014) Daw-Yang Hwang et al.   KIDNEY INTERNATIONAL

Successful In Utero Intervention for Bilateral Renal Agenesis

(2014) Jessica L. Bienstock et al.   OBSTETRICS AND GYNECOLOGY

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

(2014) Asaf Vivante et al.   PEDIATRIC NEPHROLOGY

Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system)

(2014) Hiep T. Nguyen et al.   Journal of Pediatric Urology

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

Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review

(2013) Danielle Mc Laughlin et al.   PEDIATRIC SURGERY INTERNATIONAL

Smith-Lemli-Opitz syndrome: Phenotype, natural history, and epidemiology

(2012) Małgorzata J.M. Nowaczyk et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Imaging and Classification of Congenital Cystic Renal Diseases

(2012) Fred E. Avni et al.   AMERICAN JOURNAL OF ROENTGENOLOGY

Prenatal diagnosis of Jeune-like syndromes with two-dimensional and three-dimensional sonography

(2011) Rose Rahmani et al.   JOURNAL OF CLINICAL ULTRASOUND

Ciliopathies: an expanding disease spectrum

(2011) Aoife M. Waters et al.   PEDIATRIC NEPHROLOGY

Megacystis microcolon intestinal hypoperistalsis syndrome: systematic review of outcome

(2011) Jan-Hendrik Gosemann et al.   PEDIATRIC SURGERY INTERNATIONAL

Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene

(2010) Joanna Walczak-Sztulpa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PAX2mutations in fetal renal hypodysplasia

(2010) Jelena Martinovic-Bouriel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Effect of Drugs on Renal Development

(2010) M. F. Schreuder et al.   Clinical Journal of the American Society of Nephrology

Molecular Genetics and Pathogenic Mechanisms for the Severe Ciliopathies: Insights into Neurodevelopment and Pathogenesis of Neural Tube Defects

(2010) Clare V. Logan et al.   MOLECULAR NEUROBIOLOGY

Measurement of compensatory hyperplasia of the contralateral kidney: usefulness for differential diagnosis of fetal unilateral empty renal fossa

(2009) J. Y. Cho et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Genetic syndromes and prenatally detected renal anomalies

(2008) C. Deshpande et al.   Seminars in Fetal & Neonatal Medicine