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 | 3 |
2003 | 2 |
2005 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 356393
6 results
Results by year
Filters applied: . Clear all
Page 1
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.
Hum Genet. 2005 Mar;116(4):292-9. doi: 10.1007/s00439-004-1227-2. Epub 2005 Jan 20.
Hum Genet. 2005.
PMID: 15660226
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.
Ahmed ZM, Riazuddin S, Ahmad J, Bernstein SL, Guo Y, Sabar MF, Sieving P, Riazuddin S, Griffith AJ, Friedman TB, Belyantseva IA, Wilcox ER.
Ahmed ZM, et al.
Hum Mol Genet. 2003 Dec 15;12(24):3215-23. doi: 10.1093/hmg/ddg358. Epub 2003 Oct 21.
Hum Mol Genet. 2003.
PMID: 14570705
Item in Clipboard
A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.
Ben-Yosef T, Ness SL, Madeo AC, Bar-Lev A, Wolfman JH, Ahmed ZM, Desnick RJ, Willner JP, Avraham KB, Ostrer H, Oddoux C, Griffith AJ, Friedman TB.
Ben-Yosef T, et al.
N Engl J Med. 2003 Apr 24;348(17):1664-70. doi: 10.1056/NEJMoa021502.
N Engl J Med. 2003.
PMID: 12711741
Free article.
No abstract available.
Item in Clipboard
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.
Alagramam KN, Yuan H, Kuehn MH, Murcia CL, Wayne S, Srisailpathy CR, Lowry RB, Knaus R, Van Laer L, Bernier FP, Schwartz S, Lee C, Morton CC, Mullins RF, Ramesh A, Van Camp G, Hageman GS, Woychik RP, Smith RJ.
Alagramam KN, et al.
Hum Mol Genet. 2001 Aug 1;10(16):1709-18. doi: 10.1093/hmg/10.16.1709.
Hum Mol Genet. 2001.
PMID: 11487575
Item in Clipboard
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.
Ahmed ZM, Riazuddin S, Bernstein SL, Ahmed Z, Khan S, Griffith AJ, Morell RJ, Friedman TB, Riazuddin S, Wilcox ER.
Ahmed ZM, et al.
Am J Hum Genet. 2001 Jul;69(1):25-34. doi: 10.1086/321277. Epub 2001 Jun 7.
Am J Hum Genet. 2001.
PMID: 11398101
Free PMC article.
Item in Clipboard
The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene.
Alagramam KN, Murcia CL, Kwon HY, Pawlowski KS, Wright CG, Woychik RP.
Alagramam KN, et al.
Nat Genet. 2001 Jan;27(1):99-102. doi: 10.1038/83837.
Nat Genet. 2001.
PMID: 11138007
Item in Clipboard
Cite
Cite