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ARVO Annual Meeting Abstract June 2024

On the Activity of Sequence Variants in the Enhancer of PRDM13

Markus N Preising; Christian Zlobin

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4645.

ARVO Annual Meeting Abstract June 2023

Functional benefits of subretinal gene augmentation therapy with Voretigene Neparvovec for inherited retinal disease associated with biallelic mutations in RPE65

Birgit Lorenz; Markus N Preising; Johanna Pauline Scholz; Sandrine H. Künzel; Philipp Herrmann; Frank G Holz

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):987.

ARVO Annual Meeting Abstract June 2023

Longitudinal characterization of chorioretinal atrophies after subretinal gene augmentation therapy with Voretigene Neparvovec in RPE65 -mediated retinal degeneration

Sandrine H. Künzel; Marlene Sassmannshausen; Josua Sassen; Markus N Preising; Frank G Holz; Birgit Lorenz; Philipp Herrmann

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):5006.

ARVO Annual Meeting Abstract June 2023

Taurin supplementation in two brothers with a homozygous mutation in SLC6A6

Markus N Preising; Kerstin Holve; Sandra Schuetz; Borros Arneth; Christian Jux; Andreas Hahn; Christoph Friedburg

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1535.

ARVO Annual Meeting Abstract June 2022

Multimodal widefield imaging for postoperative monitoring in patients treated with voretigene neparvovec

Philipp Herrmann; Birgit Lorenz; Johanna Pauline Scholz; Ralf Brinken; Markus N Preising; Kristina Küpper; Naike Cavriani; Laura Wirtz; Frank G Holz

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4400 – F0079.

ARVO Annual Meeting Abstract July 2019

Genotype-Phenotype Correlation in Inherited Retinal Diseases Caused By Biallelic CEP290 Variations

Birgit Lorenz; Ute Schneider; Hanno J Bolz; Christoph Friedburg; Monika Andrassi-Darida; Markus N Preising

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4515.

ARVO Annual Meeting Abstract July 2019

Testing for North Carolina Macular Dystrophy (NCMD) Variations

Markus N Preising; Marc Platschek; Birgit Lorenz

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):395.

Retina September 2018

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290

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Dyon Valkenburg; Caroline van Cauwenbergh; Birgit Lorenz; Mies M. van Genderen; Mette Bertelsen; Jan-Willem R. Pott; Frauke Coppieters; Julie de Zaeytijd; Alberta A. H. J. Thiadens; Caroline C. W. Klaver; Hester Y. Kroes; Mary J. van Schooneveld; Markus Preising; Carel B. Hoyng; Bart P. Leroy; L. Ingeborgh van den Born; Rob W. J. Collin

Invest. Ophthalmol. Vis. Sci.. 2018; 59(11):4384-4391. https://doi.org/10.1167/iovs.18-24817

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

Identification of mutations in CACNA1F in patients with incomplete CSNB applying next generation sequencing approaches

Christina Zeitz; Christelle Michiels; Marion Neuille; Christoph Friedburg; Christel Condroyer; Fiona Boyard; Aline Antonio; Markus N Preising; Vincent Meyer; Anne Boland; Jean-François Deleuze; Lilia Mesrob; Bernhard Jurklies; Birgit Lorenz; Jose Alain Sahel; Isabelle S Audo

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):575.

ARVO Annual Meeting Abstract June 2017

A Novel Candidate Gene for Complete Achromatopsia

Markus N Preising; Anna-Maria Zuliani; Birgit Lorenz

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2781.

ARVO Annual Meeting Abstract September 2016

Investigations for the underlying genetic cause in a consanguineous family with complete achromatopsia

Markus N Preising; Anna-Maria Zuliani; Birgit Lorenz

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3167.

ARVO Annual Meeting Abstract June 2015

Correlation of the fundus autofluorescence pattern with retinal layer thickness in patients with retinitis pigmentosa

Markus N Preising; Stefanie Leibold; Hanno Joern Bolz; Birgit Lorenz

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):3810.

ARVO Annual Meeting Abstract April 2014

Evaluation of mutant retinol cycle enzymes

Markus N Preising; Annabella Janise; Hoffmann Ina; Weber Julia; Birgit Lorenz

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3469.

ARVO Annual Meeting Abstract April 2014

Efficacy of oral acetazolamide and topical dorzolamide therapy for X-linked juvenile retinoschisis maculopathy

Maria Silvana Galantuomo; Alberto Cuccu; Ignazio Zucca; Markus N Preising; Birgit Lorenz; Maurizio Fossarello

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):5910.

ARVO Annual Meeting Abstract April 2014

Links between the endoplasmatic reticulum protein WFS1/Wolframin and mitochondrial proteins defined in silico may explain optic atrophy

Rainald G Schmidt-Kastner; Tyler Seidman; Gabriel Quinones-Medina; Birgit Lorenz; Markus N Preising

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):6230.

Articles February 2014

Optical Coherence Tomography (OCT) Device Independent Intraretinal Layer Segmentation

PDF

Alexander Ehnes; Yaroslava Wenner; Christoph Friedburg; Markus N. Preising; Wadim Bowl; Walter Sekundo; Erdmuthe Meyer zu Bexten; Knut Stieger; Birgit Lorenz
TAGS: engineering, optical coherence tomography, retina
Trans. Vis. Sci. Tech.. 2014; 3(1):1. https://doi.org/10.1167/tvst.3.1.1

Includes: Supplemental Content

Multidisciplinary Ophthalmic Imaging June 2013

Automated Segmentation of Pathological Cavities in Optical Coherence Tomography Scans

PDF

Matthäus Pilch; Knut Stieger; Yaroslava Wenner; Markus N. Preising; Christoph Friedburg; Erdmuthe Meyer zu Bexten; Birgit Lorenz
TAGS: optical coherence tomography, volume, retina, exudative retinal detachment, anti-vascular endothelial growth factor therapy
Invest. Ophthalmol. Vis. Sci.. 2013; 54(6):4385-4393. https://doi.org/10.1167/iovs.12-11396

ARVO Annual Meeting Abstract June 2013

Impact of CHM Mutations at the mRNA level

Markus Preising; Nayyir Alavi; Birgit Lorenz

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):1330.

ARVO Annual Meeting Abstract June 2013

High-coverage next-generation sequencing (NGS) for retinal dystrophies and Usher syndrome: High diagnostic yield, CNV detection, novel disease mechanisms and therapy targets

Hanno Bolz; Christine Neuhaus; Markus Preising; Arif Khan; Martin Gliem; Peter Charbel Issa; Uwe Wolfrum; Andreas Gal; Birgit Lorenz; Tobias Eisenberger

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):3373.

ARVO Annual Meeting Abstract June 2013

Towards Comprehensive Registration of DNA Sequence Variants Associated with Inherited Retinal Diseases in Leiden Open Variation Databases

Frans Cremers; Johan den Dunnen; Muhammad Ajmal; Alamdar Hussain; Muhammad Khan; Markus Preising; Stephen Daiger; Raheel Qamar; LOVD Study Group

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):3379.

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On the Activity of Sequence Variants in the Enhancer of PRDM13

Functional benefits of subretinal gene augmentation therapy with Voretigene Neparvovec for inherited retinal disease associated with biallelic mutations in RPE65

Longitudinal characterization of chorioretinal atrophies after subretinal gene augmentation therapy with Voretigene Neparvovec in RPE65 -mediated retinal degeneration

Taurin supplementation in two brothers with a homozygous mutation in SLC6A6

Multimodal widefield imaging for postoperative monitoring in patients treated with voretigene neparvovec

Genotype-Phenotype Correlation in Inherited Retinal Diseases Caused By Biallelic CEP290 Variations

Testing for North Carolina Macular Dystrophy (NCMD) Variations

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290

Identification of mutations in CACNA1F in patients with incomplete CSNB applying next generation sequencing approaches

A Novel Candidate Gene for Complete Achromatopsia

Investigations for the underlying genetic cause in a consanguineous family with complete achromatopsia

Correlation of the fundus autofluorescence pattern with retinal layer thickness in patients with retinitis pigmentosa

Evaluation of mutant retinol cycle enzymes

Efficacy of oral acetazolamide and topical dorzolamide therapy for X-linked juvenile retinoschisis maculopathy

Links between the endoplasmatic reticulum protein WFS1/Wolframin and mitochondrial proteins defined in silico may explain optic atrophy

Optical Coherence Tomography (OCT) Device Independent Intraretinal Layer Segmentation

Automated Segmentation of Pathological Cavities in Optical Coherence Tomography Scans

Impact of CHM Mutations at the mRNA level

High-coverage next-generation sequencing (NGS) for retinal dystrophies and Usher syndrome: High diagnostic yield, CNV detection, novel disease mechanisms and therapy targets

Towards Comprehensive Registration of DNA Sequence Variants Associated with Inherited Retinal Diseases in Leiden Open Variation Databases

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