Výsledky vyhledávání - "Kurtenbach, Anne"

Akademický článek

Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort

Autor: Nasser, Fadi, Kohl, Susanne, Kurtenbach, Anne, Kempf, Melanie, Biskup, Saskia, Zuleger, Theresia, Haack, Tobias B., Weisschuh, Nicole, Stingl, Katarina, Zrenner, Eberhart

The aim of this study was to characterize the ophthalmic and genetic features of Bardet Biedl (BBS) syndrome in a cohort of patients from a German specialized ophthalmic care center. Sixty-one patients, aged 5–56 years, underwent a detailed ophthal

Externí odkaz: https://ul.qucosa.de/id/qucosa%3A87860
https://ul.qucosa.de/api/qucosa%3A87860/attachment/ATT-0/

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Akademický článek

Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene.

Autor: Nasser, Fadi¹ (AUTHOR) fadi.nasser@med.uni-tuebingen.de, Kurtenbach, Anne¹ (AUTHOR), Biskup, Saskia² (AUTHOR), Weidensee, Sabine³ (AUTHOR), Kohl, Susanne¹ (AUTHOR), Zrenner, Eberhart^1,4 (AUTHOR)

Publikováno v: Acta Ophthalmologica (1755375X). May2020, Vol. 98 Issue 3, pe316-e321. 6p.

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Akademický článek

Usher Syndrome and Color Vision.

Autor: Kurtenbach, Anne¹ anne.kurtenbach@uni-tuebingen.de, Hahn, Gesa¹, Kernstock, Christoph¹, Hipp, Stephanie¹, Zobor, Ditta¹, Stingl, Katarina¹, Kohl, Susanne¹, Bonnet, Crystel^2,3, Mohand-Saïd, Saddek^2,4, Sliesoraityte, Ieva⁵, Sahel, José-Alain^2,3,4, Audo, Isabelle^2,4, Fakin, Ana⁶, Hawlina, Marko⁶, Testa, Francesco⁷, Simonelli, Francesca⁷, Petit, Christine^2,3,8,9, Zrenner, Eberhart^1,10

Publikováno v: Current Eye Research. Oct2018, Vol. 43 Issue 10, p1295-1301. 7p.

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Correlating Adaptive Optics Images to Clinical Findings in Juvenile Macular Dystrophy with Hypotrichosis in Siblings with Homozygous CDH3 Pathogenic Variation

Autor: Nasser, Fadi, Kempf, Melanie, Kurtenbach, Anne, Stöhr, Heidi, Weber, Bernhard H.F., Neuhaus, Christine, Rating, Philipp, Zrenner, Eberhart

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=unidue___bib::eb7453c0967a10b02c1dd18030d1e847
https://www.ncbi.nlm.nih.gov/pubmed/31927556

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Visual Evoked Potentials Used to Evaluate a Commercially Available Superabsorbent Polymer as a Cheap and Efficient Material for Preparation-Free Electrodes for Recording Electrical Potentials of the Human Visual Cortex

Autor: Straßer, Torsten, Kramer, Susanne, Kempf, Melanie, Peters, Tobias, Kurtenbach, Anne, Zrenner, Eberhart

Publikováno v: Sensors
Volume 19
Issue 22
Sensors, Vol 19, Iss 22, p 4890 (2019)
Sensors (Basel, Switzerland)

The aim of this study was to investigate the use of inexpensive and easy-to-use hydrogel &ldquo
marble&rdquo
electrodes for the recording of electrical potentials of the human visual cortex using visual evoked potentials (VEPs) as example.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::303868125f21f041eb8eb917877d2924

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CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A

Autor: Testa, Francesco, Melillo, Paolo, Bonnet, Crystel, Marcelli, Vincenzo, de Benedictis, Antonella, Colucci, Raffaella, Gallo, Beatrice, Kurtenbach, Anne, Rossi, Settimio, Marciano, Elio, AURICCHIO, ALBERTO, Petit, Christine, Zrenner, Eberhart, Simonelli, Francesca, MARCIANO, ELIO

Publikováno v: RETINA
RETINA, Lippincott, Williams & Wilkins, 2017, 37 (8), pp.1581-1590. ⟨10.1097/IAE.0000000000001389⟩
RETINA. The Journal of Retinal and Vitreous Diseases
RETINA. The Journal of Retinal and Vitreous Diseases, 2017, 37 (8), pp.1581-1590. ⟨10.1097/IAE.0000000000001389⟩

Purpose: To evaluate differences in the visual phenotype and natural history of Usher syndrome caused by mutations in MYO7A or USH2A, the most commonly affected genes of Usher syndrome Type I (USH1) and Type II (USH2), respectively.Methods: Eighty-ei

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99848b4d30d4d74bd061287b8a7428c2
https://hal-pasteur.archives-ouvertes.fr/pasteur-03219649

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