• <em>NPHP1</em>-Related ciliopathies: A new case and major review of the ophthalmic manifestations of 147 reported cases
• A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p
• A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution
• Carrier detection in tapetoretinal degeneration in association with medullary cystic disease
• Ciliary Genes in Renal Cystic Diseases
• Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation
• Clinical features and mutation of NPHP5 in two Chinese siblings with Senior-Loken syndrome
• Clinical nosologic and genetic aspects of Joubert and related syndromes
• Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis
• Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration
• Diverse retinal-kidney phenotypes associated with <em>NPHP1</em> homozygous whole-gene deletions in patients with kidney failure
• Electroretinography in nephronophthisis. Role of the Senior-Loken syndrome
• Exudative Retinal Detachment due to Coats Disease in a Teenager with Senior-Loken Syndrome: Case Report and Review of Literature
• Hemothorax From an Anomalous Bronchial Artery Bleed in an Infected Intralobar Pulmonary Sequestration
• Hepatic, pancreatic and renal manifestations of a ciliopathy
• Hereditary chorioretinal degeneration and nephronophthisis. The role of Senior-Loken syndrome
• Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas
• Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations
• IQCB1 (NPHP5)-retinopathy: Clinical and Genetic Characterization and Natural History
• Leber congenital amaurosis--differential diagnosis, ophthalmological and neuroradiological report of 18 patients
• Lumpers or splitters? The role of molecular diagnosis in Leber congenital amaurosis
• Mapping of gene loci for nephronophthisis type 4 and Senior-Loken syndrome, to chromosome 1p36
• Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome
• Molecular genetics in diagnosis of Coats disease: combination of oligogenic variants associated with different forms of hereditary retinal dystrophy
• Molecular Study of Nephronophthisis in 7 Unrelated Pakistani Families
• Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis
• Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome
• Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
• Nephronophthisis
• Nephronophthisis
• Nephronophtisis
• New Insights into Cystic Kidney Diseases
• Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4
• Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies
• Presumed uremic optic neuropathy in a patient with Senior-Loken syndrome
• Retinitis pigmentosa and renal failure in a patient with mutations in INVS
• RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction
• Senior-Loken syndrome and intracranial hypertension
• Senior-Loken syndrome in an Iranian family
• Senior-Loken syndrome secondary to IQCB1 mutation in association with retinitis pigmentosa
• Senior-Loken syndrome secondary to NPHP5/IQCB1 mutation in an Iranian family
• Senior-Loken syndrome with marbelized fundus and unusual skeletal abnormalities. A case report
• Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype
• Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype
• Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy
• The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin
• Threatening drug-drug interaction in a kidney transplant patient with coronavirus disease 2019 (COVID-19)
• Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy