Search | IOVS | ARVO Journals

Access Provided By:
MIT Libraries

Forgot password?

Create an Account

View

Showing 1 – 14 of 14

SORT: Best Match Most Recent Oldest

VIEW: Basic | Expanded

ARVO Annual Meeting Abstract June 2022

Next-Generation Sequencing Panel Results for Inherited Retinal Dystrophy in a Large Pediatric Cohort

Iker Sánchez Navarro; Kimberly Gall; Julie Hathaway; Alicia Scocchia; Kati Kämpjärvi; Johanna Känsäkoski; Pernilla von Nandelstadh; Marta Gandia; Sanna Vattulainen-Collanus; Ka-Yan Mak; Mari-Liis Mikk; Laura Sarantaus; Hanna Västinsalo; Inka Saarinen; Sari Tuupanen; Juha Koskenvuo

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1.

Articles January 2022

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

PDF

Sari Tuupanen; Kimberly Gall; Johanna Sistonen; Inka Saarinen; Kati Kämpjärvi; Kirsty Wells; Katja Merkkiniemi; Pernilla von Nandelstadh; Laura Sarantaus; Johanna Känsäkoski; Emma Mårtenson; Hanna Västinsalo; Jennifer Schleit; Eeva-Marja Sankila; Annakarin Kere; Heidi Junnila; Pauli Siivonen; Margarita Andreevskaya; Ville Kytölä; Mikko Muona; Pertteli Salmenperä; Samuel Myllykangas; Juha Koskenvuo; Tero-Pekka Alastalo
TAGS: cohort studies, prevalence, retinal dystrophies
Trans. Vis. Sci. Tech.. 2022; 11(1):6. https://doi.org/10.1167/tvst.11.1.6

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2020

Next generation sequencing-based genetic testing reveals key diagnostic contribution by copy number variants in inherited retinal diseases

Kirsty Wells; Kati Kämpjärvi; Lucia Guidugli; Johanna Känsäkoski; Pernilla von Nandelstadh; Hanna Västinsalo; Laura Sarantaus; Katja Merkkiniemi; Emma Mårtensson; Jennifer Schleit; Miko Valori; Inka Saarinen; Johanna Sistonen; Juha Koskenvuo; Sari Tuupanen; Tero-Pekka Alastalo

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):838.

ARVO Annual Meeting Abstract July 2019

Prevalence and genetic characteristics of RPE65 -associated retinal disease

Tero-Pekka Alastalo; Kati Kämpjärvi; Lucia Guidugli; Johanna Känsäkoski; Kirsty Wells; Hanna Västinsalo; Laura Sarantaus; Pertteli Salmenperä; Samuel Myllykangas; Eeva-Marja Kaarina Sankila; Juha Koskenvuo; Sari Tuupanen

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):400.

ARVO Annual Meeting Abstract July 2019

A whole exome sequencing-based panel assay with boosted clinical content generates a high diagnostic yield in patients with inherited eye diseases

Kati Kämpjärvi; Kirsty Wells; Miika Mehine; Johanna Känsäkoski; Laura Sarantaus; Hanna Västinsalo; Jennifer Schleit; Inka Saarinen; Mikko Muona; Samuel Myllykangas; Tero-Pekka Alastalo; Juha Koskenvuo; Jussi Paananen; Sari Tuupanen

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):421.

ARVO Annual Meeting Abstract April 2011

Clarin-1 Expression In The Retina Using AAV Mediated Gene Delivery

Astra Dinculescu; Yoshikazu Imanishi; Frank M. Dyka; Jianwen Liu; Issam McDoom; Xuan Liu; Hanna Västinsalo; Reetta Jalkanen; Eeva-Marja Sankila; William W. Hauswirth

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):3336.

ARVO Annual Meeting Abstract April 2011

Cone Structure in Patients with Usher Syndrome III Caused by Mutations in the Clarin-1 Gene

Kavitha Ratnam; Hanna Vastinsalo; Sanna Sundquist; Austin Roorda; Eeva-Marja K. Sankila; Jacque L. Duncan

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):4975.

ARVO Annual Meeting Abstract April 2009

Expression of Usher Syndrome Type 3 Gene (clrn1) in Zebrafish Sensory Cells

H. Vastinsalo; J. B. Phillips; E.-M. Sankila; M. Westerfield

Invest. Ophthalmol. Vis. Sci.. 2009; 50(13):4134.

ARVO Annual Meeting Abstract May 2008

Mutation Spectrum of Usher Syndrome in Finland

H. Vastinsalo; J. Isosomppi; L. Kleemola; L. Jauhola; E.-M. Sankila

Invest. Ophthalmol. Vis. Sci.. 2008; 49(13):2121.

ARVO Annual Meeting Abstract May 2007

Alternative Splice Variants of the Usher Syndrome Type 3 (USH3) Gene Clarin 1 (CLRN1)

H. Vastinsalo; J. Isosomppi; A. Dinculescu; W. W. Hauswirth; S. Geller; J. Flannery; E.-M. Sankila

Invest. Ophthalmol. Vis. Sci.. 2007; 48(13):3791.

ARVO Annual Meeting Abstract May 2006

A Yeast Two–Hybrid Screen for Clarin–1 (USH3A) Interacting Proteins

J. Isosomppi; A. Aittakorpi; H. Västinsalo; S.F. Geller; E.M. Sankila; J.G. Flannery

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):2063.

ARVO Annual Meeting Abstract May 2006

Functional Evaluation of Two Novel Ush3a Mutations by in vitro Expression

H.M. Vastinsalo; J. Isosomppi; S. Geller; J. Flannery; E. Heon; E.–M. Sankila

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):2062.

ARVO Annual Meeting Abstract May 2005

Cellular Localization and Processing of USH3A Protein Clarin–1 in Transiently Transfected Cell Lines

J. Isosomppi; H. Västinsalo; S.F. Geller; J.G. Flannery; E.M. Sankila

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):1641.

ARVO Annual Meeting Abstract May 2005

Two Novel Mutations in Myosin VIIA Cause USH1B in a Compound Heterozygote Finnish Patient

H.M. Vastinsalo; J. Isosomppi; E.–M. Sankila

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):1800.

Advertisement