• <em>NPHP1</em>-Related ciliopathies: A new case and major review of the ophthalmic manifestations of 147 reported cases
• A bell-shaped pattern of urinary aquaporin-2-bearing extracellular vesicle release in an experimental model of nephronophthisis
• A case report of NPHP1 deletion in Chinese twins with nephronophthisis
• A case report of two Chinese monozygotic twins with NPHP1 gene-associated nephronophthisis undergoing kidney transplantation from a related living-donor
• A family with five siblings affected with nephronophthisis
• A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies
• A novel heterotaxy gene: Expansion of the phenotype of TTC21B-spectrum disease
• Agonists of prostaglandin E₂ receptors as potential first in class treatment for nephronophthisis and related ciliopathies
• Are renal ciliopathies (replication) stressed out?
• Atypical histological abnormalities in an adult patient with nephronophthisis harboring NPHP1 deletion: a case report
• Atypical retinopathy in patients with nephronophthisis type 1: an uncommon ophthalmological finding
• Behavioral and neuroanatomical analyses in a genetic mouse model of 2q13 duplication
• Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease
• Bilateral primary renal diffuse large B-cell lymphoma: a rare presentation of paediatric renal disease mimicking juvenile nephronophthisis
• Brothers with ocular motor apraxia, juvenile nephronophthisis, and mild cerebellar defects
• Case 3: Fatigue, Weight Loss, Pallor, and Polydipsia in 12-year-old Girl
• Case report of a child with nephronophthisis from South Africa
• Case Report: Adolescent-Onset Isolated Nephronophthisis Caused by a Novel Homozygous Inversin Mutation
• Case Report: Effects of Secondary Hyperparathyroidism Treatment on Improvement of Juvenile Nephronophthisis-Induced Pancytopenia and Myelofibrosis
• Cilia-localized LKB1 regulates chemokine signaling, macrophage recruitment, and tissue homeostasis in the kidney
• Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy
• Clinical and genetic characteristics of Japanese nephronophthisis patients
• Clinical and pathological features and varied mutational spectra of pathogenic genes in 55 Chinese patients with nephronophthisis
• Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience
• Clinical features and gene mutation analysis of 13 Chinese juvenile patients with nephronophthisis
• Clinical features and mutation of NPHP5 in two Chinese siblings with Senior-Løken syndrome
• Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates
• Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Løken syndrome
• Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis
• Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis
• Defective INPP5E distribution in NPHP1-related Senior-Loken syndrome
• Dietary flax oil rich in α-linolenic acid reduces renal disease and oxylipin abnormalities, including formation of docosahexaenoic acid derived oxylipins in the CD1-pcy/pcy mouse model of nephronophthisis
• Expanding horizons: ciliary proteins reach beyond cilia
• Expression profiles of NPHP1 in the germ cells in the semen of men with male factor infertility
• Fluorescence in situ hybridization for the diagnosis of NPHP1 deletion-related nephronophthisis on renal biopsy
• Gene mutation analysis in Iranian children with nephronophthisis: a two-center study
• Gene mutation and clinical analysis of nephronophthisis diagnosed using whole exome sequencing: Experience from China

• Generation of induced pluripotent stem cell line carrying frameshift variants in NPHP1 (UCSFi001-A-68) using CRISPR/Cas9
• Generation of two human induced pluripotent stem cell lines derived from two juvenile nephronophthisis patients with NPHP1 deletion
• Genotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP
• High Dietary Protein Does Not Alter Renal Prostanoids and Other Oxylipins in Normal Mice or in Those with Inherited Kidney Disease
• High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients
• High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing
• Identification of a new mutation of the NPHP1 gene
• Identification of an NPHP1 deletion causing adult form of nephronophthisis
• Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome
• Inversin (NPHP2) and Vangl2 are required for normal zebrafish cloaca formation
• Juvenile nephronophthisis and dysthyroidism: a rare association
• Kidney and liver transplantation in children with fibrocystic liver-kidney disease: data from the US Scientific Registry of Transplant Recipients: 1990-2010
• Living-Related Kidney Transplantation in a Patient with Juvenile Nephronophthisis
• Long-Term Outcomes of Kidney Transplant Recipients With Juvenile Nephronophthisis
• Molecular Study of Nephronophthisis in 7 Unrelated Pakistani Families
• Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis
• Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype
• Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis
• Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis
• Nephronophthisis and related syndromes
• Nephronophthisis gene products display RNA-binding properties and are recruited to stress granules
• Nephronophthisis in Young Adults Phenocopying Thrombotic Microangiopathy and Severe Nephrosclerosis
• Nephronophthisis type I, left ventricular non-compaction cardiomyopathy and reduced cilia motility-atypical manifestations of one disease
• Nephronophthisis: a pediatric case report
• Nephronophthisis: should we target cysts or fibrosis?
• New Insights into Cystic Kidney Diseases
• Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment
• NPHP3 splice acceptor site variant is associated with infantile nephronophthisis and asphyxiating thoracic dystrophy; A rare combination
• Overexpression of smad7 inhibits the TGF-β/Smad signaling pathway and EMT in NPHP1-defective MDCK cells
• Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4
• Patient-derived and gene-edited pluripotent stem cells lacking NPHP1 recapitulate juvenile nephronophthisis in abnormalities of primary cilia and renal cyst formation
• Peritoneal dialysis-associated infection caused by Mycobacterium abscessus in a pediatric patient on continuous peritoneal dialysis without switching to hemodialysis
• Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy
• Phenotype Spectrum in Tunisian Population with NPHP1 Deletion
• Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies
• Post renal transplant type 2 diabetes mellitus in a case of familial juvenile nephrophthisis
• Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 2q12.2→q13 encompassing MALL, NPHP1, RGPD6 and BUB1
• Priority target conditions for algorithms for monitoring children's growth: Interdisciplinary consensus
• Prospective Evaluation of Kidney Disease in Joubert Syndrome
• QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions
• Rapidly Progressive Nephronophthisis in a 2-Year-Old Boy with a Homozygous SDCCAG8 Mutation
• Reduction of ciliary length through pharmacologic or genetic inhibition of CDK5 attenuates polycystic kidney disease in a model of nephronophthisis
• Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis
• Renal Replacement Therapy in Children in Lithuania: Challenges, Trends, and Outcomes
• Retinal dystrophy as part of <em>TTC21B</em>-associated ciliopathy
• Scalp Tumor and Hydroureteronephrosis in Patients with Nephronophthisis and Homozygous NPHP1 Deletion
• Secukinumab for Severe Hidradenitis Suppurativa in a Patient on Haemodialysis: Efficacy and Safety on 300 mg Every 2 Weeks Administration - A Case Report
• Senior Loken Syndrome
• Senior- loken syndrome - a ciliopathy
• Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report
• Situs inversus and cystic kidney disease: Two adult patients with this Heterogeneous syndrome
• Successful resumption of peritoneal dialysis following living donor liver transplantation in children with end-stage renal disease
• Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy
• The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies
• The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued
• The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development
• The Senior-Loken syndrome: Two cases from the State of Qatar
• Two Chinese nephronophthisis pedigrees harbored a compound heterozygous deletion with a point mutation in <em>NPHP1</em>
• Two novel homozygous mutations in NPHP1 lead to late onset end-stage renal disease: a case report of an adult nephronophthisis in a Chinese intermarriage family
• Two rare copy number variants involving loss of <em>NPHP1</em>, <em>MALL</em>, and <em>MTLN</em> genes contribute to nephronophthisis-induced nephropathy progression in a family: A case report
• Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity
• Whole Exome Sequencing Reveals a XPNPEP3 Novel Mutation Causing Nephronophthisis in a Pediatric Patient
• Working out nephronophthisis genetics one family at a time