Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2001 | 1 |
2022 | 1 |
2024 | 0 |
Search Results
2 results
Results by year
Filters applied: . Clear all
Quoted phrase not found in phrase index: "Late-onset nephronophthisis"
Page 1
Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation.
Hum Mol Genet. 2022 May 4;31(9):1357-1369. doi: 10.1093/hmg/ddab322.
Hum Mol Genet. 2022.
PMID: 34740236
Nephronophthisis-related ciliopathies (NPHP-RC) comprises a group of inherited kidney diseases, caused by mutations in genes encoding proteins localizing to primary cilia. ...Here, we identified biallelic ANKS6 mutations in two affected siblings with late-onset …
Nephronophthisis-related ciliopathies (NPHP-RC) comprises a group of inherited kidney diseases, caused by mutations in genes encoding …
Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice.
Omran H, Häffner K, Burth S, Fernandez C, Fargier B, Villaquiran A, Nothwang HG, Schnittger S, Lehrach H, Woo D, Brandis M, Sudbrak R, Hildebrandt F.
Omran H, et al.
J Am Soc Nephrol. 2001 Jan;12(1):107-113. doi: 10.1681/ASN.V121107.
J Am Soc Nephrol. 2001.
PMID: 11134256
In a large Venezuelan kindred, a new type of nephronophthisis was recently identified: Adolescent nephronophthisis (NPH3) is a late-onset recessive renal cystic disorder of the nephronophthisis/medullary cystic group of diseases causing end-stag …
In a large Venezuelan kindred, a new type of nephronophthisis was recently identified: Adolescent nephronophthisis (NPH3) is a …
Item in Clipboard
Cite
Cite