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 |
---|---|
2007 | 1 |
2008 | 1 |
2010 | 1 |
2024 | 0 |
Search Results
3 results
Results by year
Filters applied: . Clear all
Page 1
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.
Eur J Hum Genet. 2010 Oct;18(10):1133-40. doi: 10.1038/ejhg.2010.59. Epub 2010 May 12.
Eur J Hum Genet. 2010.
PMID: 20461111
Free PMC article.
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.
Bugiani M, Gyftodimou Y, Tsimpouka P, Lamantea E, Katzaki E, d'Adamo P, Nakou S, Georgoudi N, Grigoriadou M, Tsina E, Kabolis N, Milani D, Pandelia E, Kokotas H, Gasparini P, Giannoulia-Karantana A, Renieri A, Zeviani M, Petersen MB.
Bugiani M, et al.
Am J Med Genet A. 2008 Sep 1;146A(17):2221-6. doi: 10.1002/ajmg.a.32239.
Am J Med Genet A. 2008.
PMID: 18655112
Item in Clipboard
Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
Katzaki E, Pescucci C, Uliana V, Papa FT, Ariani F, Meloni I, Priolo M, Selicorni A, Milani D, Fischetto R, Celle ME, Grasso R, Dallapiccola B, Brancati F, Bordignon M, Tenconi R, Federico A, Mari F, Renieri A, Longo I.
Katzaki E, et al.
J Hum Genet. 2007;52(12):1011-1017. doi: 10.1007/s10038-007-0208-4. Epub 2007 Nov 8.
J Hum Genet. 2007.
PMID: 17990063
Item in Clipboard
Cite
Cite