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Year Number of Results
2016 1
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2020 8
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39 results

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Page 1
Ciliopathies and the Kidney: A Review.
McConnachie DJ, Stow JL, Mallett AJ. McConnachie DJ, et al. Am J Kidney Dis. 2021 Mar;77(3):410-419. doi: 10.1053/j.ajkd.2020.08.012. Epub 2020 Oct 9. Am J Kidney Dis. 2021. PMID: 33039432 Free article. Review.
Nephronophthisis: a pathological and genetic perspective.
Wolf MTF, Bonsib SM, Larsen CP, Hildebrandt F. Wolf MTF, et al. Pediatr Nephrol. 2024 Jul;39(7):1977-2000. doi: 10.1007/s00467-023-06174-8. Epub 2023 Nov 6. Pediatr Nephrol. 2024. PMID: 37930417 Review.
If extrarenal symptoms are present in addition to NPHP, these disorders are defined as NPHP-related ciliopathies (NPHP-RC) and can involve the retina (e.g., with Senior-Loken syndrome), CNS (central nervous system) (e.g., with Joubert syndrome), liver (e.g., …
If extrarenal symptoms are present in addition to NPHP, these disorders are defined as NPHP-related ciliopathies (NPHP-RC) and can involve t …
Ciliopathy: Senior-Loken Syndrome.
Tsang SH, Aycinena ARP, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:175-178. doi: 10.1007/978-3-319-95046-4_34. Adv Exp Med Biol. 2018. PMID: 30578507 Review.
Senior-Loken syndrome is a rare autosomal recessive disease with a prevalence of 1:1,000,000. ...
Senior-Loken syndrome is a rare autosomal recessive disease with a prevalence of 1:1,000,000. ...
Ciliopathy: Senior-Loken Syndrome.
Tsang SH, Aycinena ARP, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2025;1467:189-191. doi: 10.1007/978-3-031-72230-1_34. Adv Exp Med Biol. 2025. PMID: 40736836
Senior-Loken syndrome is a rare autosomal recessive disease with a prevalence of 1:1,000,000....
Senior-Loken syndrome is a rare autosomal recessive disease with a prevalence of 1:1,000,000....
Senior-Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management.
Zhou D, Zeng Y, Luo W, Leng C, Li C. Zhou D, et al. Biomolecules. 2025 May 5;15(5):667. doi: 10.3390/biom15050667. Biomolecules. 2025. PMID: 40427560 Free PMC article. Review.
Senior-Loken syndrome (SLSN) is a group of rare autosomal recessive disorders caused by dysfunction of the primary cilium, primarily affecting the kidneys (typically leading to nephronophthisis) and eyes (typically leading to retinal degeneration). ...
Senior-Loken syndrome (SLSN) is a group of rare autosomal recessive disorders caused by dysfunction of the primary cili …
Senior-Loken syndrome and intracranial hypertension.
Tay SA, Vincent AL. Tay SA, et al. Ophthalmic Genet. 2020 Aug;41(4):354-357. doi: 10.1080/13816810.2020.1766086. Epub 2020 May 20. Ophthalmic Genet. 2020. PMID: 32432520
BACKGROUND: Senior-Loken syndrome (SLS) is a rare autosomal recessive disease characterised by nephronophthisis and retinal degeneration, and belongs to a group of genetically heterogeneous disorders known as the ciliopathies. ...RESULTS: We present findings …
BACKGROUND: Senior-Loken syndrome (SLS) is a rare autosomal recessive disease characterised by nephronophthisis and ret …
Leber Congenital Amaurosis.
Tsang SH, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2025;1467:143-149. doi: 10.1007/978-3-031-72230-1_26. Adv Exp Med Biol. 2025. PMID: 40736828
Those with CEP290 or ICQB1 mutations should have a renal evaluation and neurological evaluation for Joubert syndrome or Senior Loken syndrome....
Those with CEP290 or ICQB1 mutations should have a renal evaluation and neurological evaluation for Joubert syndrome or Senior Lok …
Clinical and Genetic Characteristics of Senior-Loken Syndrome Patients in Korea.
Song JR, Jung S, Joo K, Choi HI, Kim YJ, Woo SJ. Song JR, et al. Genes (Basel). 2025 Jul 17;16(7):835. doi: 10.3390/genes16070835. Genes (Basel). 2025. PMID: 40725491 Free PMC article.
Background/Objectives: Senior-Loken syndrome (SLS) is a rare autosomal recessive renal-retinal disease caused by mutations in 10 genes. ...
Background/Objectives: Senior-Loken syndrome (SLS) is a rare autosomal recessive renal-retinal disease caused by mutati …
Defective INPP5E distribution in NPHP1-related Senior-Loken syndrome.
Ning K, Song E, Sendayen BE, Prosseda PP, Chang KC, Ghaffarieh A, Alvarado JA, Wang B, Haider KM, Berbari NF, Hu Y, Sun Y. Ning K, et al. Mol Genet Genomic Med. 2021 Jan;9(1):e1566. doi: 10.1002/mgg3.1566. Epub 2020 Dec 11. Mol Genet Genomic Med. 2021. PMID: 33306870 Free PMC article.
BACKGROUND: Senior-Loken syndrome is a rare genetic disorder that presents with nephronophthisis and retinal degeneration, leading to end-stage renal disease and progressive blindness. ...NPHP1 encodes the protein nephrocystin-1, which functions at the transi …
BACKGROUND: Senior-Loken syndrome is a rare genetic disorder that presents with nephronophthisis and retinal degenerati …
The Role of Visual Electrophysiology in Systemic Hereditary Syndromes.
Yu M, Vieta-Ferrer ER, Bakdalieh A, Tsai T. Yu M, et al. Int J Mol Sci. 2025 Jan 23;26(3):957. doi: 10.3390/ijms26030957. Int J Mol Sci. 2025. PMID: 39940729 Free PMC article. Review.
Other syndromes, such as Alagille syndrome (AGS), abetalipoproteinemia (ABL), Cockayne syndrome (CS), Joubert syndrome (JS), mucopolysaccharidosis (MPS), Neuronal ceroid lipofuscinoses (NCLs), and Senior-Loken syndrome (SLS), exhibit significant ocular involv …
Other syndromes, such as Alagille syndrome (AGS), abetalipoproteinemia (ABL), Cockayne syndrome (CS), Joubert syndrome (JS), mucopolysacchar …
39 results