Search | IOVS | ARVO Journals

View

Showing 1 – 10 of 10

SORT: Best Match Most Recent Oldest

VIEW: Basic | Expanded

ARVO Annual Meeting Abstract July 2018

Phenotypic expression of EYS mutations in patients with autosomal recessive retinitis pigmentosa in northern Sweden

Marie Burstedt; Frida Jonsson; Ida Maria Westin; Irina Golovleva

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):19. doi:

ARVO Annual Meeting Abstract July 2018

Functional study of two canonical splice site variants c.3877+1G>A and c.2992_2992+6delinsTG in the EYS gene associated with recessive retinitis pigmentosa in northern Sweden

Ida Maria Westin; Frida Jonsson; Lennart Österman; Marie Burstedt; Monica Holmberg; Irina Golovleva

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5413. doi:

ARVO Annual Meeting Abstract June 2017

Central visual function over two-year follow-up of patients with RLBP1 retinitis pigmentosa enrolled in a prospective Natural History Study

Kalliopi Stasi; Michael Wald; Marie Burstedt; Jane Green; James Whelan; Michael Rosol; Xiao Ni; Zhenzhong Su; Jean-Yves Deslandes; Cynthia L Grosskreutz; Karen Holopigian

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3244. doi:

ARVO Annual Meeting Abstract June 2017

Humphrey visual field and flicker electroretinogram changes over two-year follow-up in patients with RLBP1 retinitis pigmentosa enrolled in a prospective Natural History Study

Karen Holopigian; Jane Green; James Whelan; Marie Burstedt; Zhenzhong Su; Jean-Yves Deslandes; Xiao Ni; Michael Wald; Cynthia L Grosskreutz; Kalliopi Stasi

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3246. doi:

ARVO Annual Meeting Abstract June 2017

Full-field stimulus threshold dark-adaptation kinetics over two-year follow-up in patients with RLBP1 retinitis pigmentosa enrolled in a prospective Natural History Study

Xiao Ni; Michael Wald; Marie Burstedt; Jane Green; James Whelan; Zhenzhong Su; Jean-Yves Deslandes; Cynthia L Grosskreutz; Kalliopi Stasi; Karen Holopigian

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3249. doi:

ARVO Annual Meeting Abstract June 2017

Cross-sectional evaluation of patient-reported outcomes (PROs) in patients with RLBP1 retinitis pigmentosa enrolled in a Natural History Study

Anmol Mullins; Marie Burstedt; Jane Green; James Whelan; Brigitte Sloesen; Xiao Ni; Zhenzhong Su; Michael Wald; Cynthia L Grosskreutz; Kalliopi Stasi; Karen Holopigian; Jean-Yves Deslandes

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3251. doi:

ARVO Annual Meeting Abstract June 2017

Baseline characteristics of patients with RLBP1 retinitis pigmentosa enrolled in a prospective Natural History Study

Jane Green; Marie Burstedt; James H Whelan; Yunsheng He; Zhenzhong Su; Xiao Ni; Michael Wald; Guillaume Normand; Jean-Yves Deslandes; Cynthia L Grosskreutz; Karen Holopigian; Kalliopi Stasi

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3254. doi:

ARVO Annual Meeting Abstract June 2017

Longitudinal evaluation of optical coherence tomography and color fundus photography over 2 year follow up in patients with RLBP1 retinitis pigmentosa

James H Whelan; Guillaume Normand; Michael Maker; Marie Burstedt; Jane Green; Michael Wald; Zhenzhong Su; Xiao Ni; Karen Holopigian; Cynthia L Grosskreutz; Kalliopi Stasi

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3255. doi:

ARVO Annual Meeting Abstract September 2016

Heterogeneity and complexity of EYS mutations in autosomal recessive retinitis pigmentosa in northern Sweden

Irina Golovleva; Frida Jonsson; Marie Burstedt

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3136. doi:

Retina July 2008

Carrier of R14W in Carbonic Anhydrase IV Presents Bothnia Dystrophy Phenotype Caused by Two Allelic Mutations in RLBP1

PDF

Linda Köhn; Marie S. I. Burstedt; Frida Jonsson; Konstantin Kadzhaev; Eneli Haamer; Ola Sandgren; Irina Golovleva
TAGS: phenotype, polymerase chain reaction, mutation, carbonic anhydrase iv, dna, genes, heterozygote
Invest. Ophthalmol. Vis. Sci.. 2008; 49(7):3172-3177. doi: 10.1167/iovs.07-1664

Advertisement