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PubMed This is a summary of 68 peer-reviewed journal articles Updated

Research & Literature

Explore the leading researchers and institutions driving advances in this area, and dive into the full body of literature that informs this resource.

Explore the Literature Visualize citation networks across 68 referenced papers

Top Authors

Friedhelm Hildebrandt
University Medical Center Freiburg
Ali G. Gharavi
Columbia University Irving Medical Center
Heidi L. Rehm
Broad Institute
Sue Richards
Oregon Health & Science University
Asaf Vivante
Edmond and Lily Safra Children's Hospital
Andrew J. Mallett
The University of Queensland
Kushani Jayasinghe
Monash Health
Catherine Quinlan
Royal Children's Hospital
Michiel F. Schreuder
Radboud University Nijmegen
Peter Igarashi
University of Minnesota

Top Institutions

Ranked by publications Top 10 institutions

References

References (68)
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    Diagnostic accuracy of midtrimester antenatal ultrasound for multicystic dysplastic kidneys.

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    Screening for Mullerian anomalies in patients with unilateral renal agenesis: Leveraging early detection to prevent complications.

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

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    Retrospective study to identify risk factors for chronic kidney disease in children with congenital solitary functioning kidney detected by neonatal renal ultrasound screening.

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    Advanced Imaging for the Diagnosis and Treatment of Coexistent Renal and Müllerian Abnormalities.

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    Necessity of performing voiding cystourethrography for children with unilateral multicystic dysplastic kidney.

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    Pediatric nephrology (Berlin, Germany) 2019; (34(2)):295-299 doi:10.1007/s00467-018-4079-z.

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    A meta-analysis of the incidence and fate of contralateral vesicoureteral reflux in unilateral multicystic dysplastic kidney.

    Erlich T, Lipsky AM, Braga LH

    Journal of pediatric urology 2019; (15(1)):77.e1-77.e7 doi:10.1016/j.jpurol.2018.10.023.

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    Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.

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    Journal of the American Society of Nephrology : JASN 2019; (30(2)):201-215 doi:10.1681/ASN.2018060575.

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    The clinical characteristics of Chinese patients with unilateral renal agenesis.

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    The Incidence and Durability of Compensatory Hypertrophy in Pediatric Patients with Solitary Kidneys.

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    Urology 2019; (129()):188-193 doi:10.1016/j.urology.2019.04.003.

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    Knowledge of vesicoureteral reflux obtained by screening voiding cystourethrogram in children with multicystic dysplastic kidney does not change patient management or prevent febrile urinary tract infection.

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    Importance of Genetic Diagnostics in Adult-Onset Focal Segmental Glomerulosclerosis.

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    Multicystic dysplastic kidney - treat each case on its merits.

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    Voiding Cystourethrogram in Children With Unilateral Multicystic Dysplastic Kidney: Is It Still necessary?

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    Urology 2020; (139()):156-160 doi:10.1016/j.urology.2020.02.005.

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    Hypoparathyroidism, deafness, and renal dysplasia syndrome: 20 Years after the identification of the first GATA3 mutations.

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    Predicting outcomes and improving care in children with congenital kidney anomalies.

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    Physiology and Pathophysiology of Compensatory Adaptations of a Solitary Functioning Kidney.

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    Clinical impact of genomic testing in patients with suspected monogenic kidney disease.

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    EARLY ONSET OF MODY5 DUE TO HAPLOINSUFFICIENCY OF HNF1B.

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    Multicystic Dysplastic Kidney: Prenatal Compensatory Renal Growth Pattern.

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    New PAX2 Mutation Associated with Polycystic Kidney Disease: A Case Report.

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    Renal function in children with a congenital solitary functioning kidney: A systematic review.

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    Evaluation of renal injury in children with a solitary functioning kidney.

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    Prevalence of reflux nephropathy in Iranian children with solitary kidney: results of a multi-center study.

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    A case of right hypodysplastic kidney and ectopic ureter associated with bicornuate uterus in a prepubertal girl.

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    Unilateral multicystic dysplastic kidney disease associated with ipsilateral ureteric bud remnant and contralateral duplex collecting system.

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    The Outcome of Multicystic Dysplastic Kidney Disease Patients at King Abdulaziz Medical City in Riyadh.

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    New insights from trio whole-exome sequencing in the children with kidney disease: A single-center retrospective cohort study.

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    PAX2 Gene Mutation in Pediatric Renal Disorders-A Narrative Review.

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    Müllerian anomalies in girls with congenital solitary kidney.

    Walawender L, Santhanam N, Davies B, et al.

    Pediatric nephrology (Berlin, Germany) 2024; (39(6)):1783-1789 doi:10.1007/s00467-023-06266-5.

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    A Narrative Review of Contact Sports Participation in Children and Young Athletes With a Solitary (Functioning) Kidney.

    Coghlan K, McDermott J, Molloy M, et al.

    The American journal of sports medicine 2024; (52(11)):2939-2947 doi:10.1177/03635465231216341.

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    Multicystic renal dysplasia, a histomorphological spectrum: Seven years experience from a tertiary care hospital.

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    Single-Center Experience of Pediatric Cystic Kidney Disease and Literature Review.

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    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.

    Gazeu A, Collardeau-Frachon S

    Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2024; (27(5)):459-493 doi:10.1177/10935266241239241.

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    Heterozygous variants in the teashirt zinc finger homeobox 3 (TSHZ3) gene in human congenital anomalies of the kidney and urinary tract.

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    Supporting Infants with Multicystic Dysplastic Kidney Disease: A Comprehensive Approach.

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    Subclinical target organ damage in a sample of children and adolescents with solitary functioning kidney. A pilot study.

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    Renal dysplasia development and chronic kidney disease.

    Zhang L, Yang C, Liu X, et al.

    Pediatric research 2025; (98(4)):1212-1222 doi:10.1038/s41390-025-03950-0.

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    Clinical Characteristics and Outcomes of Children with Unilateral Multicystic Dysplastic Kidney: A Cohort Study.

    Vandana G, Karunakar P, Krishnasamy S, et al.

    Indian pediatrics 2025; (62(3)):203-209 doi:10.1007/s13312-025-00006-8.

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    A Novel Synonymous Variant of PAX2 in Monochorionic Diamniotic Twins With Bilateral Renal Agenesis: A Case Report and Literature Review.

    Yao W, Xu B, Wang H, et al.

    Molecular genetics & genomic medicine 2025; (13(6)):e70113 doi:10.1002/mgg3.70113.

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    Clinical outcome of children with prenatally diagnosed isolated unilateral multicystic dysplastic kidney.

    Huettinger M, Bogner G, Fischer T, et al.

    European journal of obstetrics, gynecology, and reproductive biology 2025; (312()):114112 doi:10.1016/j.ejogrb.2025.114112.

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    Kidney Agenesis and Müllerian Duct Anomalies: A Report of Two Cases and Literature Review.

    Donielaitė-Anisė K, Marozas R, Bumbulienė Ž, Jankauskienė A

    Acta medica Lituanica 2025; (32(1)):229-235 doi:10.15388/Amed.2025.32.1.7.

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    From Intermittent Knee Pain to End-Stage Kidney Disease: An Atypical Presentation of Bilateral Kidney Dysplasia in an 11-Year-Old Girl.

    Kim K, Araya C, Brogan R

    Case reports in pediatrics 2025; (2025()):8856638 doi:10.1155/crpe/8856638.

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    Association Between Multicystic Dysplastic Kidney and the Local Renin-Angiotensin-Aldosterone System: A Pilot Study of a New Biomarker.

    Ishimori S, Ishiko S, Fujimura J, et al.

    Nephrology (Carlton, Vic.) 2025; (30(10)):e70132 doi:10.1111/nep.70132.

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    Multicystic dysplastic kidneys (MCDK) during prenatal life and postnatal outcome.

    Reinhardt CJM, Henrich W, Verlohren S, et al.

    Archives of gynecology and obstetrics 2025; (312(6)):2131-2146 doi:10.1007/s00404-025-08197-y.

    PMID: 41107504
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    Bilateral multicystic dysplastic kidney disease in a Fetus: A rare case with a fatal outcome.

    Pedun B, Pitua I, Bongomin F, Tumusiime C

    Urology case reports 2025; (63()):103259 doi:10.1016/j.eucr.2025.103259.

    PMID: 41245176
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    Prenatal diagnosis to postnatal outcomes in multicystic dysplastic kidney: experience of a tertiary center in the Black Sea region.

    Ünver G, Serin S, Tosun M, et al.

    Revista da Associacao Medica Brasileira (1992) 2025; (71(12)):e20251175 doi:10.1590/1806-9282.20251175.

    PMID: 41417372
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    Presence And Laterality Of Endometriosis In Adolescent Patients With Obstructed Müllerian Duct Anomalies, A Twenty-Three Year Retrospective Cohort Analysis Between 2002 - 2025 At An Australian Quaternary Paediatric And Adolescent Gynaecology Service.

    Skalecki SL, Ballard EL, Baartz DL, Kimble RMN

    Journal of pediatric and adolescent gynecology 2026; doi:10.1016/j.jpag.2026.01.002.

    PMID: 41539558
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    From Pelvis to Groin: Non-Communicating Rudimentary Uterine Horn and Endometriosis Presenting as an Inguinal Hernia in a Woman with a Solitary Pelvic Kidney.

    Xu G, Li W, Qu J

    International journal of women's health 2026; (18()):581854 doi:10.2147/IJWH.S581854.

    PMID: 41710153