Search | TVST | ARVO Journals

Showing 1 – 14 of 14

SORT: Best Match Most Recent Oldest

VIEW: Basic | Expanded

ARVO Annual Meeting Abstract June 2022

Clinical and histopathologic characteristics of autosomal dominant cone-rod dystrophy caused by mutations in the CRX gene

Isa van der Veen; Leo Hahn; Michalis Georgiou; Mary J. van Schooneveld; Jacoline B ten Brink; Ralph J. Florijn; Annette Ossewaarde-van Norel; Omar Abdul Rahman Mahroo; Emanuel de Carvalho; Arthur A. Bergen; Michel Michaelides; Camiel J F Boon

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1785 – F0334.

ARVO Annual Meeting Abstract June 2022

The evolution and spectrum of structural changes in X-linked retinoschisis on retinal imaging

Leo Hahn; Mary J. van Schooneveld; Ralph J. Florijn; Jacoline B ten Brink; Ine Strubbe; Magda M. Meester-Smoor; Alberta A H J Thiadens; Roselie M.H. Diederen; Caroline C W Klaver; Carel C B Hoyng; Mies M. van Genderen; Bart P Leroy; Arthur A. Bergen; Camiel J F Boon

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3319 – F0128.

ARVO Annual Meeting Abstract June 2022

Four-year prospective follow-up in patients with CRB1 -associated retinal dystrophies

Jessica Serena Karuntu; Xuan-Thanh-An Nguyen; Mays Talib; Mary J. van Schooneveld; Jan Wijnholds; Mies M. van Genderen; Nicoline E. Schalij-Delfos; Caroline C W Klaver; Ralph J. Florijn; Jacoline B ten Brink; Magda M. Meester-Smoor; L. Ingeborgh van den Born; Carel C B Hoyng; Alberta A H J Thiadens; Arthur A. Bergen; Camiel J F Boon

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4479 – F0266.

Clinical and Epidemiologic Research January 2022

The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences

PDF

Charlotte C. Kruijt; Libe Gradstein; Arthur A. Bergen; Ralph J. Florijn; Benoit Arveiler; Eulalie Lasseaux; Xavier Zanlonghi; Laura Bagdonaite-Bejarano; Anne B. Fulton; Claudia Yahalom; Anat Blumenfeld; Yonatan Perez; Ohad S. Birk; Gerard C. de Wit; Nicoline E. Schalij-Delfos; Maria M. van Genderen
TAGS: albinism, albinism, oculocutaneous, foveal hypoplasia, phenotype, syndrome, pathologic nystagmus, mutation
Invest. Ophthalmol. Vis. Sci.. 2022; 63(1):19. https://doi.org/10.1167/iovs.63.1.19

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2021

X-linked retinoschisis: Long-term follow-up and genetic spectrum in 340 patients

Camiel J F Boon; Leo Hahn; Mary J. van Schooneveld; Ralph J. Florijn; Jacoline B. ten Brink; Ine Strubbe; Michel H. Hof; Magda Meester-Smoor; Caroline C. W. Klaver; Alberta A. Thiadens; Jeannette Ossewaarde-van Norel; L. Ingeborgh van den Born; Carel Hoyng; Maria M. van Genderen; Bart P Leroy; Arthur A.B. Bergen

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2172.

ARVO Annual Meeting Abstract June 2020

A two-year prospective natural history study in patients with CRB1-associated retinal dystrophies: establishing clinical endpoints for future gene therapy trials

Xuan-Thanh-An Nguyen; Mays Talib; Mary J. van Schooneveld; Jan Wijnholds; Maria M. van Genderen; Ralph J. Florijn; Jacoline ten Brink; Frans P Cremers; Magda A. Meester; Caroline Klaver; L. Ingeborgh van den Born; Carel C B Hoyng; Alberta Thiadens; Arthur Bergen; Camiel Boon

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3051.

Articles August 2019

Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations

PDF

Mays Talib; Mary J. van Schooneveld; Roos J. G. van Duuren; Caroline Van Cauwenbergh; Jacoline B. ten Brink; Elfride De Baere; Ralph J. Florijn; Nicoline E. Schalij-Delfos; Bart P. Leroy; Arthur A. Bergen; Camiel J. F. Boon
TAGS: follow-up, genetics, mutation, phenotype, retinal degeneration, respiratory distress syndrome, newborn, eye, visual impairment
Trans. Vis. Sci. Tech.. 2019; 8(4):24. https://doi.org/10.1167/tvst.8.4.24

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

The disease course of rhodopsin (RHO) -associated retinitis pigmentosa (RP): a follow-up study

Xuan-Thanh-An Nguyen; Mays Talib; Mary J van Schooneveld; Caroline Van Cauwenbergh; Jacoline B ten Brink; Ralph J Florijn; Nicoline Schalij-Delfos; Maria M. van Genderen; Frans P Cremers; L. Ingeborgh van den Born; Alberta A H J Thiadens; Carel C B Hoyng; Caroline C W Klaver; Arthur A Bergen; Bart P Leroy; Camiel Boon

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4505.

Retina August 2018

The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene

PDF

Mays Talib; Mary J. van Schooneveld; Caroline Van Cauwenbergh; Jan Wijnholds; Jacoline B. ten Brink; Ralph J. Florijn; Nicoline E. Schalij-Delfos; Gislin Dagnelie; Maria M. van Genderen; Elfride De Baere; Magda A. Meester-Smoor; Julie De Zaeytijd; Frans P. M. Cremers; L. Ingeborgh van den Born; Alberta A. Thiadens; Carel B. Hoyng; Caroline C. Klaver; Bart P. Leroy; Arthur A. Bergen; Camiel J. F. Boon
TAGS: genes, heterozygote, phenotype, signs and symptoms
Invest. Ophthalmol. Vis. Sci.. 2018; 59(10):4123-4133. https://doi.org/10.1167/iovs.17-23453

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

Identification of novel variants in CYP1B1, PITX2, FOXC1, and PAX6 in congenital glaucoma and anterior segment dysgenesis

Shazia Micheal; Sorath Noorani Siddiqui; Saemah Nuzhat Zafar; Ralph J. Florijn; Hennie Bikker; Camiel J F Boon; Muhammad Khan; Anneke I Den Hollander; Arthur Bergen

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2124.

ARVO Annual Meeting Abstract June 2017

RPGR -associated retinal dystrophies: a longitudinal study

Mays Talib; Mary J van Schooneveld; Jan Wijnholds; Nicoline Schalij-Delfos; Ralph J. Florijn; Ingeborgh Van Den Born; Frans P Cremers; Alberta A H J Thiadens; Carel C B Hoyng; Caroline Klaver; Arthur Bergen; Camiel J F Boon

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2012.

Visual Neuroscience October 2013

Ultrastructural Localization of GPR179 and the Impact of Mutant Forms on Retinal Function in CSNB1 Patients and a Mouse Model

PDF

Jan Klooster; Maria M. van Genderen; Minzhong Yu; Ralph J. Florijn; Frans C. C. Riemslag; Arthur A. B. Bergen; Ronald G. Gregg; Neal S. Peachey; Maarten Kamermans
TAGS: electroretinography, erg protein, human, mice, photopsia, mutation, biopharmaceutics classification system
Invest. Ophthalmol. Vis. Sci.. 2013; 54(10):6973-6981. https://doi.org/10.1167/iovs.13-12293

ARVO Annual Meeting Abstract March 2012

A Novel Strategy For Fast And Cost-effective Mutation Detection In Retinitis Pigmentosa Genes Using Next Generation Sequencing

Ralph J. Florijn; Renate C. Zekveld-Vroon; Arne Bakker; Martin A. Haagmans; Jaroslav Skokan; Mary J. van Schooneveld; Olaf R. Mook; Arthur A. Bergen

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4518.

ARVO Annual Meeting Abstract April 2011

Homozygosity Mapping, Haplotype Tagging an Direct Sequencing reveal New Mutations in Retinitis Pigmentosa disease genes

Renate C. Zekveld-Vroon; Arne Bakker; Mary J. van Schooneveld; Ralph J. Florijn; Arthur A. Bergen

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):5407.

NARROW

Content Type

Journal

Article Type

Topics

Tags

Specify Date Range

Clinical and histopathologic characteristics of autosomal dominant cone-rod dystrophy caused by mutations in the CRX gene

The evolution and spectrum of structural changes in X-linked retinoschisis on retinal imaging

Four-year prospective follow-up in patients with CRB1 -associated retinal dystrophies

The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences

X-linked retinoschisis: Long-term follow-up and genetic spectrum in 340 patients

A two-year prospective natural history study in patients with CRB1-associated retinal dystrophies: establishing clinical endpoints for future gene therapy trials

Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations

The disease course of rhodopsin (RHO) -associated retinitis pigmentosa (RP): a follow-up study

The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene

Identification of novel variants in CYP1B1, PITX2, FOXC1, and PAX6 in congenital glaucoma and anterior segment dysgenesis

RPGR -associated retinal dystrophies: a longitudinal study

Ultrastructural Localization of GPR179 and the Impact of Mutant Forms on Retinal Function in CSNB1 Patients and a Mouse Model

A Novel Strategy For Fast And Cost-effective Mutation Detection In Retinitis Pigmentosa Genes Using Next Generation Sequencing

Homozygosity Mapping, Haplotype Tagging an Direct Sequencing reveal New Mutations in Retinitis Pigmentosa disease genes

To View More...

You must be signed into an individual account to use this feature.