Morphometric analysis of retroperitoneal organs in individuals with unilateral congenital renal agenesis and renal hypoplasia.

Meier-Gorlin syndrome due to a recurrent DONSON variant in a Turkish family: first report of thumb aplasia and long-term growth data.

Atypical presentation of HNF1β gene mutation mimicking type 2 diabetes: Case report and literature review.

Renal Hypoplasia and Oligomeganephronia in a Fetus with Wolf-Hirschhorn Syndrome.

Urinary bladder duplication in an adult male with associated genitourinary and spinal malformations: Multimodal imaging and surgical confirmation in a complex urogenital case.

13q Deletion Syndrome Presenting with Lymphopenia Detected Through Newborn Screening for Primary Immunodeficiencies.

Dual acting inhibitor of soluble epoxide hydrolase and Cyclooxygenase-2, attenuates glomerular injury in renal hypoplasia mice.

Prognostic factors for long-term outcomes of unilateral atrophic kidneys in adult patients: a single-center retrospective cohort study.

Rac1 in nephron progenitor cells is essential for kidney development.

Clinical Characteristics and Genetic Variants in Children with PAX2 Mutation-Associated Disorders.

Zinner's syndrome in two young middle-aged men: a case report and review of the literature.

Variable Phenotypic Expression of PAX2 Variants in Two Lithuanian Families with Kidney Disease.

The role of chromatin-related epigenetic modulations in CAKUT.

Prenatal ultrasound diagnosis of ectopic ureter and renal hypoplasia in two puppies: a case report.

A homozygous human WNT11 variant is associated with laterality, heart and renal defects.

Congenital Anomalies of the Kidney and Urinary Tract in Down Syndrome: Prevalence, Phenotypes, Genetics and Clinical Management.

Case report: Renal malformations in wild roe deer (Capreolus capreolus) in Central Poland.

Kidney Function and Size in Children With Down Syndrome: A Cross-Sectional Study.

OHVIRA Syndrome and Ureteral Ectopy Draining in the Ipsilateral Hemiuterus, Diagnosed in the Prepubertal Age Group: Case-Report and Literature Review.

Cranial, Renal, and Skeletal Anomalies in a Fetus With a Pathogenic Variant in the TAFAZZIN Gene.

Assessing masked hypertension and ambulatory arterial stiffness index in children congenital kidney malformations.

Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome due to a novel GATA3 mutation p.Ala287Asp.

Successful Kidney Transplantation for Bilateral Renal Hypoplasia With Ebstein Disease.

A rare variant of zinner syndrome with ejaculatory duct cyst: case report and challenges in diagnosis and management.

Congenital Anomalies of the Kidney and Urinary Tract in Patients with Hirschsprung Disease.

Practical Approach to Congenital Anomalies of the Kidneys: Focus on Anomalies With Insufficient or Abnormal Nephron Development: Renal Dysplasia, Renal Hypoplasia, and Renal Tubular Dysgenesis.

A Boy with End-Stage Kidney Disease and Hypertriglyceridemia.

Filippi syndrome: Three new families suggest that urinary system abnormalities may belong to clinical spectrum of the disease.

A novel heterozygous variant of the SALL1 gene with atypical Townes-Brocks syndrome phenotypes in Chinese family.

Autoimmune Liver Disease Associated Uveitis: An Extrahepatic Manifestation or a Polyautoimmunity Phenomenon? Case Reports.

Renal Endometriosis Mimics Renal Cell Carcinoma in a Hypoplastic Kidney: A Case Report.

Reduced Nephron Endowment in Six2-TGCtg Mice Is Due to Six3 Misexpression by Aberrant Enhancer-Promoter Interactions in the Transgene.

Anesthetic Management for Kidney Transplant in a Young Patient With Mitral Regurgitation: Case Report.

SALL4 deletion and kidney and cardiac defects associated with VACTERL association.

A renal aplasia case mimicking radiologically as unilateral renal agenesis in a child with spina bifida, atresia ani and unilateral undescended testis: a case report.

Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).

Spontaneous resolution and the role of endoscopic surgery in the treatment of primary obstructive megaureter: a review of the literature.

A novel homozygous missense variant in LRP4 causing Cenani-Lenz syndactyly syndrome and literature review.

Overexpression of long noncoding RNA 4933425B07Rik leads to renal hypoplasia by inactivating Wnt/β-catenin signaling pathway.

Reduced nephron endowment in the common Six2-TGC tg mouse line is due to Six3 misexpression by aberrant enhancer-promoter interactions in the transgene.

Mediastinal lipomatosis in a patient with Bardet-Biedl syndrome: more diverse than previously thought.

Zinner Syndrome: Radiologic Diagnosis in a Rare Case.

A novel pathogenic variant c.262delA in PBX1 causing oligomeganephronia identified using whole-exome sequencing and a literature review.

[Two novel and de novo KMT2D mutations on the same allele cause Kabuki syndrome].

A novel homozygous missense variant in TBC1D31 in a consanguineous family with congenital anomalies of the kidney and urinary tract (CAKUT).

Hypertension secondary to renal hypoplasia in a child.

Posterior Reversible Encephalopathy Syndrome in a Pediatric Patient with End-Stage Renal Disease.

Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome.

Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).

PAX2 and CAKUT Phenotypes: Report on Two New Variants and a Review of Mutations from the Leiden Open Variation Database.

Urinary extracellular vesicles signature for diagnosis of kidney disease.

[Genetic analysis of a patient with Papillorenal syndrome due to variant of PAX2 gene].

De novo NUF2 variant in a novel inherited bone marrow failure syndrome including microcephaly and renal hypoplasia.

Evaluation of screening with urine dipsticks and renal ultrasonography for 3-year-olds in Chiba City over 30 years.

Novel somatic PBX1 mosaicism likely masking syndromic CAKUT in an adult with bilateral kidney hypoplasia.

Histologic characterization and risk factors for persistent albuminuria in adolescents in a region of highly prevalent end-stage renal failure of unknown origin.

State of the Science for Kidney Disorders in Phelan-McDermid Syndrome: UPK3A, FBLN1, WNT7B, and CELSR1 as Candidate Genes.

Predicting factors of clinically significant urological anomalies after initial urinary tract infection among 2- to 24-month-old children.

Identification of Recurrent Anatomical Clusters Using Three-dimensional Virtual Models for Complex Renal Tumors with an Imperative Indication for Nephron-sparing Surgery: New Technological Tools for Driving Decision-making.

Immunohistochemical Expression Pattern of FGFR1, FGFR2, RIP5, and HIP2 in Developing and Postnatal Kidneys of Dab1-/- (yotari) Mice.

Loss of Planar Cell Polarity Effector Fuzzy Causes Renal Hypoplasia by Disrupting Several Signaling Pathways.

Case Report: Candidate Genes Associated With Prenatal Ultrasound Anomalies in a Fetus With Prenatally Detected 1q23.3q31.2 Deletion.

[Reinterpretation of the Malpighian body in light of the existence of a single glomerular arteriole (Trabucco and Marquez)].

A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract.

Bilateral Renal Hypoplasia with High β2-Microglobulinuria in the Neonatal Period.

Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia.

DACH1 protects podocytes from experimental diabetic injury and modulates PTIP-H3K4Me3 activity.

Laparoscopic pyeloureterostomy for ureteropelvic junction obstruction occurring in incomplete ureteral duplication of the solitary kidney.

[Diagnosis and surgical treatment of hypospadia in girls].

A Homozygous Dab1-/- Is a Potential Novel Cause of Autosomal Recessive Congenital Anomalies of the Mice Kidney and Urinary Tract.

Early Robotic-Assisted Laparoscopic Pyeloplasty for Infants Under 3 Months With Severe Ureteropelvic Junction Obstruction.

Pathophysiological clinical features of an infant with hypertension secondary to multicystic dysplastic kidney: a case report.

Chronic Active Antibody-Mediated Rejection with Linear IgG Deposition on Glomerular Capillaries in a Kidney Transplant Recipient.

[Computed tomography and positron emission tomography with 18F-FDG can help in the differential diagnosis of kidney hypoplasia and scarring].

Bilateral Morning Glory Anomaly With Optic Nerve Multiple Cysts.

Inherited intragenic PBX1 deletion: Expanding the phenotype.

Molecular basis of a new ovine model for human 3M syndrome-2.

Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.

A rare case of phakomatosis pigmentokeratotica associated with unilateral renal hypoplasia.

Kidney and inferior vena cava abnormalities with leg thromboses (KILT) syndrome: A case report and literature review.

The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome.

Reduced anogenital distance, hematuria and left renal hypoplasia in a patient with 13q33.1-34 deletion: case report and literature review.

Factors Associated With the Development of Chronic Kidney Disease in Children With Congenital Anomalies of the Kidney and Urinary Tract.

Successful Treatment of Hepatitis C Virus Infection Using Direct-Acting Antiviral Agents (DAAs) in Adolescents with Kidney Transplantation: A Case Series.

Renal Hypoplasia, From Grossly Insufficient to Not Quite Enough: Consideration for Expanded Concepts Based Upon the Author's Perspective With Historical Review.

The core SWI/SNF catalytic subunit Brg1 regulates nephron progenitor cell proliferation and differentiation.

Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome.

Renal hypoplasia can be the cause of membranous nephropathy-like lesions.

Winter syndrome: about an uncommon case report.

Ask-Upmark Kidney, Imaging Features.

Deletion in the Cobalamin Synthetase W Domain-Containing Protein 1 Gene Is associated with Congenital Anomalies of the Kidney and Urinary Tract.

Use of sildenafil in an infant with persistent pulmonary hypertension secondary to lung and renal hypoplasia - a case report.

RMND1 mutations in two siblings: Severe renal hypoplasia but different levels of extrarenal abnormality severity: The ethics of decision making.

In vivo measurements of kidney glomerular number and size in healthy and Os/+ mice using MRI.

Long-term outcome of kidney transplantation in patients with congenital anomalies of the kidney and urinary tract.

Urinary bladder agenesis and renal hypoplasia potentially related to in utero Zika virus infection.

Hypertension secondary to renal hypoplasia presenting as acute heart failure in a newborn.

Diverse phenotypes in children with PAX2-related disorder.

SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes.

[Congenital abnormalities of the optic disc].

Prenatal findings and molecular cytogenetic analyses of a de novo interstitial deletion of 1q23.3 encompassing PBX1 gene.

Unilateral renal artery stenosis presented with hyponatremic-hypertensive syndrome - case report and literature review.

Noncoding rare variants of TBX6 in congenital anomalies of the kidney and urinary tract.

Persistent Primary Cytomegalovirus Infection After Deceased Donor Kidney Transplant: Ganciclovir Susceptibility of Human Cytomegalovirus With UL97 D605E Mutation: A Case Report.

Rare case of a kidney and inferior vena cava abnormalities with extensive lower extremity deep vein thrombosis in a young healthy male.

DNA Methyltransferase 1 Controls Nephron Progenitor Cell Renewal and Differentiation.

Poland syndrome accompanied by internal iliac artery supply disruption sequence: a case report.

New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature.

Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms?

New insights into the role of HNF-1β in kidney (patho)physiology.

Development of antibody mediated rejection shortly after acute cellular rejection in a pediatric kidney transplantation recipient.

[Zinner's syndrome: A case report].

Obstetric outcomes and effects on babies born to women treated for epilepsy during pregnancy in a resource limited setting: a comparative cohort study.

Centrosome amplification disrupts renal development and causes cystogenesis.

Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling.

[Fanconi-Bickel-Syndrom: a novel genetic disease in Original Braunvieh].

Three New PAX2 Gene Mutations in Patients with Papillorenal Syndrome.

[Infrequent mutation in renal-coloboma syndrome: case report and review].

A novel heterozygous GLI2 mutation in a patient with congenital urethral stricture and renal hypoplasia/dysplasia leading to end-stage renal failure.

Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles.

Congenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature.

Nephron progenitor cell death elicits a limited compensatory response associated with interstitial expansion in the neonatal kidney.

Renal insufficiency mimicking glutaric acidemia type 1 on newborn screening.

Rethinking genotype-phenotype correlations in papillorenal syndrome: a case report on an unusual congenital camptodactyly and skeletal deformity with a heterogeneous PAX2 mutation of hexanucleotide duplication.

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.

[Renal abnormalities in Down syndrome: A review].

Doxycycline treatment in dialysis related amyloidosis: discrepancy between antalgic effect and inflammation, studied with FDG-positron emission tomography: a case report.

Outcomes of renal replacement therapy in boys with prune belly syndrome: findings from the ESPN/ERA-EDTA Registry.

A Sall1-NuRD interaction regulates multipotent nephron progenitors and is required for loop of Henle formation.

Constitutive Activation of Smoothened in the Renal Collecting Ducts Leads to Renal Hypoplasia, Hydronephrosis, and Hydroureter.

Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms.

Transient Fanconi syndrome in two preterm infants with hydronephrosis and urinary tract infection.

Osteogenesis imperfecta complicated with renal hypoplasia leads to chronic kidney disease.

PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans.

Unusual cause of anemia in a child with end-stage renal disease: Questions.

KILT (Kidney and IVC Abnormalities with Leg Thrombosis) Syndrome in a 41-Years-Old Man with Loin Pain and Fever.

Progression of renal fibrosis in congenital CKD model rats with reduced number of nephrons.

A case of a surviving co-twin diagnosed with porencephaly and renal hypoplasia after a single intrauterine fetal death at 21 weeks of gestation in a monochorionic monoamniotic twin pregnancy.

Six2creFrs2α knockout mice are a novel model of renal cystogenesis.

Chronic kidney disease in the neonate: etiologies, management, and outcomes.

Osr1 Interacts Synergistically with Wt1 to Regulate Kidney Organogenesis.

Gata3 Hypomorphic Mutant Mice Rescued with a Yeast Artificial Chromosome Transgene Suffer a Glomerular Mesangial Cell Defect.

Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability.

Diverse Renal Phenotypes Observed in a Single Family with a Genetic Mutation in Paired Box Protein 2.

Partitioning-Defective 1a/b Depletion Impairs Glomerular and Proximal Tubule Development.

ROBO2 gene variants in children with primary nonsyndromic vesicoureteral reflux with or without renal hypoplasia/dysplasia.

Multi-modality imaging review of congenital abnormalities of kidney and upper urinary tract.

Renal Function and Hematology in Rats with Congenital Renal Hypoplasia.

Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations ('STAR') syndrome.

Outcome after prenatal diagnosis of congenital anomalies of the kidney and urinary tract.

[Acute colonic pseudo-obstruction (Ogilvie syndrome) post-renal transplant].

Prorenin receptor is critical for nephron progenitors.

Urogenital development in Pallister-Hall syndrome is disrupted in a cell-lineage-specific manner by constitutive expression of GLI3 repressor.

Endothelium Expression of Bcl-2 Is Essential for Normal and Pathological Ocular Vascularization.

A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.

The MURCS Association: Mullerian Duct Aplasia, Renal Hypoplasia and Cervicothoracic Somite Dysplasia - A Case Report.

Successful Treatment of Transplant Renal Artery Thrombosis With Systemic Infusion of Recombinant-Tissue-Plasminogen Activator After Renal Transplant.

A mouse model of Townes-Brocks syndrome expressing a truncated mutant Sall1 protein is protected from acute kidney injury.

Laparoscopic simple nephrectomy patient with situs inversus totalis and left renal hypoplasia: A case report.

LDL Receptor-Related Protein 6 Modulates Ret Proto-Oncogene Signaling in Renal Development and Cystic Dysplasia.

Assessment of the HNF1B Score as a Tool to Select Patients for HNF1B Genetic Testing.

A paraganglioma in a hypertensive patient with unilateral renal hypoplasia.

Sirenomelia: a review of embryogenic theories and discussion of the differences from caudal regression syndrome.