• <em>NPHP1</em>-Related ciliopathies: A new case and major review of the ophthalmic manifestations of 147 reported cases
• ¹H, ¹³C, and ¹⁵N resonance assignments and solution structure of the N-terminal divergent calponin homology (NN-CH) domain of human intraflagellar transport protein 54
• A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)
• A novel pathogenic variant of <em>CEP164</em> in an infant with Senior-Loken syndrome
• A novel pathogenic variant of CEP164 in an infant with Senior-Loken syndrome
• Acute liver failure secondary to opportunistic viral infection in adult solid organ transplant recipients
• Acute pancreatitis: a rare complication in a patient with senior loken syndrome
• Autofluorescence and High-Resolution OCT Findings Revealed Ciliopathy in Senior-Loken Syndrome
• Autosomal Recessive Adolescent Syndromic Nephronophthisis Caused by a Novel Compound Heterozygous Pathogenic Variant
• Bardet-Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations
• Broadening the ciliopathy spectrum: motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 gene
• CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
• CEP290, a gene with many faces: mutation overview and presentation of CEP290base
• Characterization of two novel knock-in mouse models of syndromic retinal ciliopathy carrying hypomorphic <em>Sdccag8</em> mutations
• Characterizing the morbid genome of ciliopathies
• Ciliary Genes in Renal Cystic Diseases
• Ciliary Proteins Repurposed by the Synaptic Ribbon: Trafficking Myristoylated Proteins at Rod Photoreceptor Synapses
• Ciliopathies
• Ciliopathies and the Kidney: A Review
• Ciliopathy--cause of several peculiar syndromes
• Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation
• Ciliopathy: Senior-Loken Syndrome
• Clinical features and mutation of NPHP5 in two Chinese siblings with Senior-Loken syndrome
• Compound heterozygous <em>WDR19</em> variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report
• Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency
• Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Loken syndrome
• Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis
• Defective INPP5E distribution in NPHP1-related Senior-Loken syndrome
• 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
• Expanding CEP290 mutational spectrum in ciliopathies
• Exudative Retinal Detachment due to Coats Disease in a Teenager with Senior-Loken Syndrome: Case Report and Review of Literature
• First North African observation of Leber congenital amaurosis secondary to CEP290 gene mutation
• Fundus Examination Pointing to the Diagnosis of Senior-Loken Syndrome
• Generation of human induced pluripotent stem cells from peripheral blood mononuclear cells of a Senior-Loken syndrome patient
• Genetic analysis assists diagnosis of clinical systemic disease in children with excessive hyperopia
• Genetic complexity in Joubert syndrome and related disorders
• Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes
• Hemothorax From an Anomalous Bronchial Artery Bleed in an Infected Intralobar Pulmonary Sequestration
• Hepatic, pancreatic and renal manifestations of a ciliopathy
• Hereditary cerebro-oculo-renal syndromes
• Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)
• Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping
• In vitro modeling and rescue of ciliopathy associated with IQCB1/NPHP5 mutations using patient-derived cells
• Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas
• Investigation of CEP290 genotype-phenotype correlations in a patient with retinitis pigmentosa, infertility, end-stage renal disease, and a novel mutation
• IQCB1 (NPHP5)-retinopathy: Clinical and Genetic Characterization and Natural History
• IQCB1 mutations in patients with leber congenital amaurosis
• Joubert Syndrome and related disorders
• Joubert syndrome and related disorders
• Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye
• Median sacral artery injury following a bone marrow biopsy successfully treated with selective trans-arterial embolization: a case report
• 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
• Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing
• Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy
• Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome
• Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly
• Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome
• Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies
• Nephronophthisis
• Nephronophthisis
• Nephronophthisis and retinal degeneration in tmem218-/- mice: a novel mouse model for Senior-Loken syndrome?
• Nephronophthisis-associated ciliopathies
• Nephronophthisis: a pathological and genetic perspective
• New Insights into Cystic Kidney Diseases
• Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis
• 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
• Photoreceptor sensory cilia and inherited retinal degeneration
• Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome
• Potpourri of retinopathies in rare eye disease - A case series
• Presumed uremic optic neuropathy in a patient with Senior-Loken syndrome
• Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1
• Rescue of cone function in cone-only <em>Nphp5</em> knockout mouse model with Leber congenital amaurosis phenotype
• RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction
• Senior Loken syndrome
• Senior Loken Syndrome
• Senior- loken syndrome - a ciliopathy
• Senior-Loken syndrome and intracranial hypertension
• Senior-loken syndrome complicated with severe coats disease-like exudative retinopathy
• Senior-Loken syndrome in a Saudi child
• Senior-Loken syndrome in an Iranian family
• Senior-Loken syndrome misdiagnosed as nephrosclerosis related to hypertensive disorders of pregnancy
• 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 IQCB1 mutation in Taiwan
• Senior-loken syndrome with rare manifestations: a case report
• SENIOR-LOKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis
• Senior-Loken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis
• Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype
• Successful Renal Transplantation in a Patient With Senior-Loken Syndrome and Antiphospholipid Syndrome: A Case Report
• Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy
• The retinal ciliopathies
• The Senior-Loken syndrome: Two cases from the State of Qatar
• 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
• Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome
• WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome