Disease: Renal dysplasia megalcystis sirenmelia
- <em>PTPN11</em> and <em>FLNA</em> variants in a boy with ambiguous genitalia, short stature, and non-specific dysmorphic features
- <sup>1</sup>H, <sup>13</sup>C and <sup>15</sup>N backbone resonance assignments of hepatocyte nuclear factor-1-beta (HNF1β) POU<sub>S</sub> and POU<sub>HD</sub>
- A case of novel NFKB2 variant with hypertensive emergency and nephrotic syndrome leading to CKD 5D
- A Case Report on Fibromuscular Dysplasia With Extrarenal Involvement
- A novel GATA3 frameshift mutation causes hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome
- A novel heterozygous variant of the SALL1 gene with atypical Townes-Brocks syndrome phenotypes in Chinese family
- A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts
- A Rare Coincidence of Three Inherited Diseases in a Family with Cardiomyopathy and Multiple Extracardiac Abnormalities
- A rare skeletal dysplasia in the etiology of severe scoliosis: Diaphanospondylodysostosis
- 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
- A Systematic Review: Is Early Fluid Restriction in Preterm Neonates Going to Prevent Bronchopulmonary Dysplasia?
- Abnormal dental follicle cells: A crucial determinant in tooth eruption disorders (Review)
- Acute renal failure as a key to significant neonatal weight loss
- Aging like fine wine: Mischievous microbes and other factors influencing senescence
- Alagille Syndrome
- Anesthetic Management of a Patient with Klippel-Feil Syndrome for Laparoscopic Pelvic Surgery: A Case Report
- Antibiotic Prophylaxis in Infants With Grade III, IV, or V Vesicoureteral Reflux
- Artemisinin pre-treatment fore cisplatin dosage enhances high grade urothelial carcinoma treatment in male albino mice via reverse gene expression modulation of FGFR3, HRAS, P53 and KDM6A
- Assessment of extra-coronary peripheral arteriopathy in spontaneous coronary dissection: state of the art in non-invasive imaging techniques and future perspectives
- Bilateral renal dysplasia with systemic fibrous osteodystrophy in a four-toed hedgehog (Atelerixalbiventris)
- Brain and spine malformations and neurodevelopmental disorders in a cohort of children with CAKUT
- Carotid Artery Fibromuscular Dysplasia
- Case report: A novel mutation in the EYA1 gene in a child with branchiootic syndrome with secretory otitis media and bilateral vestibular hypofunction
- Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
- CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow
- Cerebral arteriopathies of childhood and stroke - A focus on systemic arteriopathies and pediatric fibromuscular dysplasia (FMD)
- Chloride deregulation and GABA depolarization in MTOR related malformations of cortical development
- Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants
- Clinical analysis of 80 patients with oblique vaginal septum syndrome
- Clinical features and temporal CT findings in patients with Branchio-Oto-Renal or Branchio-Oto Syndrome
- Clinical phenotype and genetic analysis of a fetus with Cardiac valvular dysplasia type 1
- Congenital anomalies of kidney and urinary tract (CAKUT) and associated extra-renal anomalies in fetal autopsies
- Corticosteroids alter kidney development and increase glomerular filtration rate in larval zebrafish (Danio rerio)
- Decreased calcium permeability caused by biallelic TRPV5 mutation leads to autosomal recessive renal calcium-wasting hypercalciuria
- Denosumab in a pediatric kidney transplant recipient with late, resistant hypercalcemia secondary to Pneumocystis jirovecii pneumonia
- Detection of non-cardiac fetal abnormalities by ultrasound at 11-14 weeks: systematic review and meta-analysis
- Detection of non-cardiac fetal abnormalities on ultrasound at 11-14 weeks: systematic review and meta-analysis
- DIS3L2 Gene Mutation Causes the Perlman Syndrome of Overgrowth and Wilms Tumor Susceptibility
- Doppler Ultrasound of the Renal Vasculature
- Dysplasie fibromusculaire des artères rénales : que savons-nous en 2024 ?
- Early post-operative outcomes of robot-assisted pyeloplasty in patients with unilateral ureteropelvic junction obstruction
- Effect of Oridonin on Experimental Animal Model of Bronchopulmonary Dysplasia
- Embolization of a Fibromuscular Dysplasia-Related Renal Artery Aneurysm Using an Intra-saccular Flow Disrupter
- Embryology, Kidney, Bladder, and Ureter
- Estrogen Receptor Expression in DICER1-related Lesions is Associated With the Presence of Cystic Components
- Evaluation of dental manifestations in X-linked hypophosphatemia using orthopantomography
- Evidence for routine brain-to-pelvis imaging and antiplatelet therapy in patients diagnosed with fibromuscular dysplasia
- Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families
- Exploring the link between Alport syndrome and multiple intracranial artery stenoses: a case report of COL4A5 mutation (118/120 characters)
- Fetal lower urinary tract obstruction: international Delphi consensus on management and core outcomes set
- Fibromuscular Dysplasia
- Fibromuscular dysplasia of the renal arteries: what do we know in 2024?
- Fibromuscular dysplasia of the renal arteries: what do we know in 2024?
- Genetic and radiological aspects of pediatric renal cystic disease: A case series
- Genetically inspired organoids prevent joint degeneration and alleviate chondrocyte senescence via Col11a1-HIF1α-mediated glycolysis-OXPHOS metabolism shift
- HDR syndrome: Large cohort and systematic review
- Hypophosphatemic rickets and short stature
- Identification and properties of TRPV4 mutant channels present in polycystic kidney disease patients
- Inborn errors of immunity with kidney and urinary tract disorders: a review
- Intrauterine ultrasound phenotyping, molecular characteristics, and postnatal follow-up of fetuses with the 15q11.2 BP1-BP2 microdeletion syndrome: a single-center, retrospective clinical study
- Kidney involvement in myelodysplastic syndromes
- Late-onset Cholestasis with Paucity of Portal Area Secondary to HNF1β Deficiency in Adulthood: A Case Report
- Lessons for the clinical nephrologist: fibromuscular dysplasia in older adults
- Long-term outcomes of percutaneous transluminal renal artery intervention: a retrospective study at a single center
- Loss of helicase C-terminal domain of SMARCAL1 protein associated with severe Schimke immuno-osseous dysplasia
- Multicystic renal dysplasia, a histomorphological spectrum: Seven years experience from a tertiary care hospital
- Nail-Patella Syndrome
- Neonatal Renal Failure Following Intrauterine Exposure to an Angiotensin-Converting Enzyme Inhibitor
- Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review
- Pegylated recombinant human granulocyte colony-stimulating factor for primary prophylaxis of neutropenia in patients with cervical cancer receiving concurrent chemoradiotherapy: a prospective study
- Placement of an artificial urethral sphincter in 8 male dogs with urethral diverticulum
- Potter Syndrome
- Prenatal prednisone exposure disturbs fetal kidney development and its characteristics
- Primary Mucinous Adenocarcinoma of the Renal Pelvis: A Case Report
- Primary mucinous adenocarcinoma of the ureter and renal pelvis: A case report
- Primary signet-ring cell carcinoma of the bladder treated with laparoscopic radical cystectomy: a case report
- PRKD1-related telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: Case report and review of the literature
- Profound T Lymphocyte and DNA Repair Defect Characterizes Schimke Immuno-Osseous Dysplasia
- Prune Belly Syndrome
- Punctal Atresia As a Clinical Indicator of Systemic Genetic Anomalies
- Racial differences in fibromuscular dysplasia
- Racial differences in fibromuscular dysplasia (FMD)
- Renal artery occlusion in a young woman - a tale of mysterious thrombosis
- Renal Autotransplantation for Uncontrolled Hypertension in Nonatherosclerotic Renal Artery Stenosis-2 Case Reports and a Brief Review of the Literature
- Renal Cell Carcinoma in a Patient With Crossed Renal Ectopia: A Case Report
- Renal Cyst
- Renal Cyst (Archived)
- Renal dysplasia in Leonberger dogs - An emerging recessive congenital disorder?
- Renal Pathology of Ciliopathies
- Research progress of hypoparathyroidism-deafness-renal dysplasia syndrome
- Retrospective study revealed integration of CNV-seq and karyotype analysis is an effective strategy for prenatal diagnosis of chromosomal abnormalities
- Sirenomelia: An anatomical assessment and genetic sex determination of two cases
- Subclavian Vein Thrombosis
- Successful treatment of focal renal artery fibromuscular dysplasia by balloon dilatation demonstrated via fractional flow reserve
- Survival of Infants With Severe Congenital Kidney Disease After ECMO and Kidney Support Therapy
- The Pathophysiology of Inherited Renal Cystic Diseases
- The Phenotypic Variability Associated with Hepatocyte Nuclear Factor 1B Genetic Defects Poses Challenges in Both Diagnosis and Therapy
- Thiram exposure: Disruption of the blood-testis barrier and altered apoptosis-autophagy dynamics in testicular cells via the Bcl-2/Bax and mTOR/Atg5/p62 pathways in mice
- Zinner Syndrome in Young Adult Males: A Case Series and Literature Review
- Zinner Syndrome: The Diagnosis and Management of a Rare Urogenital Malformation