Västinsalo H - Search Results

1

The cone-dominant retina and the inner ear of zebrafish express the ortholog of CLRN1, the causative gene of human Usher syndrome type 3A.

Phillips JB, Västinsalo H, Wegner J, Clément A, Sankila EM, Westerfield M. Phillips JB, et al. Among authors: vastinsalo h. Gene Expr Patterns. 2013 Dec;13(8):473-81. doi: 10.1016/j.gep.2013.09.001. Epub 2013 Sep 14. Gene Expr Patterns. 2013. PMID: 24045267 Free PMC article.

2

CLRN1 is nonessential in the mouse retina but is required for cochlear hair cell development.

Geller SF, Guerin KI, Visel M, Pham A, Lee ES, Dror AA, Avraham KB, Hayashi T, Ray CA, Reh TA, Bermingham-McDonogh O, Triffo WJ, Bao S, Isosomppi J, Västinsalo H, Sankila EM, Flannery JG. Geller SF, et al. Among authors: vastinsalo h. PLoS Genet. 2009 Aug;5(8):e1000607. doi: 10.1371/journal.pgen.1000607. Epub 2009 Aug 14. PLoS Genet. 2009. PMID: 19680541 Free PMC article.

3

Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.

Isosomppi J, Västinsalo H, Geller SF, Heon E, Flannery JG, Sankila EM. Isosomppi J, et al. Among authors: vastinsalo h. Mol Vis. 2009 Sep 8;15:1806-18. Mol Vis. 2009. PMID: 19753315 Free PMC article.

4

Alternative splice variants of the USH3A gene Clarin 1 (CLRN1).

Västinsalo H, Jalkanen R, Dinculescu A, Isosomppi J, Geller S, Flannery JG, Hauswirth WW, Sankila EM. Västinsalo H, et al. Eur J Hum Genet. 2011 Jan;19(1):30-5. doi: 10.1038/ejhg.2010.140. Epub 2010 Aug 18. Eur J Hum Genet. 2011. PMID: 20717163 Free PMC article.

5

Extended mutation spectrum of Usher syndrome in Finland.

Västinsalo H, Jalkanen R, Bergmann C, Neuhaus C, Kleemola L, Jauhola L, Bolz HJ, Sankila EM. Västinsalo H, et al. Acta Ophthalmol. 2013 Jun;91(4):325-34. doi: 10.1111/j.1755-3768.2012.02397.x. Epub 2012 Jun 8. Acta Ophthalmol. 2013. PMID: 22681893 Free article.

6

Speech recognition and communication outcomes with cochlear implantation in Usher syndrome type 3.

Pietola L, Aarnisalo AA, Abdel-Rahman A, Västinsalo H, Isosomppi J, Löppönen H, Kentala E, Johansson R, Valtonen H, Vasama JP, Sankila EM, Jero J. Pietola L, et al. Among authors: vastinsalo h. Otol Neurotol. 2012 Jan;33(1):38-41. doi: 10.1097/MAO.0b013e31823dbc56. Otol Neurotol. 2012. PMID: 22143301

7

Two Finnish USH1B patients with three novel mutations in myosin VIIA.

Vastinsalo H, Isosomppi J, Aittakorpi A, Sankila EM. Vastinsalo H, et al. Mol Vis. 2006 Sep 21;12:1093-7. Mol Vis. 2006. PMID: 17093394 Free article.

8

Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients.

Tuupanen S, Gall K, Sistonen J, Saarinen I, Kämpjärvi K, Wells K, Merkkiniemi K, von Nandelstadh P, Sarantaus L, Känsäkoski J, Mårtenson E, Västinsalo H, Schleit J, Sankila EM, Kere A, Junnila H, Siivonen P, Andreevskaya M, Kytölä V, Muona M, Salmenperä P, Myllykangas S, Koskenvuo J, Alastalo TP. Tuupanen S, et al. Among authors: vastinsalo h. Transl Vis Sci Technol. 2022 Jan 3;11(1):6. doi: 10.1167/tvst.11.1.6. Transl Vis Sci Technol. 2022. PMID: 34985506 Free PMC article.

9

Cone structure in patients with usher syndrome type III and mutations in the Clarin 1 gene.

Ratnam K, Västinsalo H, Roorda A, Sankila EM, Duncan JL. Ratnam K, et al. Among authors: vastinsalo h. JAMA Ophthalmol. 2013 Jan;131(1):67-74. doi: 10.1001/2013.jamaophthalmol.2. JAMA Ophthalmol. 2013. PMID: 22964989 Free PMC article.

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