Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Antje Bernd"'
Autor:
Laura Kuehlewein, Ditta Zobor, Katarina Stingl, Melanie Kempf, Fadi Nasser, Antje Bernd, Saskia Biskup, Frans P.M. Cremers, Muhammad Imran Khan, Pascale Mazzola, Karin Schäferhoff, Tilman Heinrich, Tobias B. Haack, Bernd Wissinger, Eberhart Zrenner, Nicole Weisschuh, Susanne Kohl
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 5, p 2374 (2021)
In this retrospective, longitudinal, observational cohort study, we investigated the phenotypic and genotypic features of retinitis pigmentosa associated with variants in the PDE6B gene. Patients underwent clinical examination and genetic testing at
Externí odkaz:
https://doaj.org/article/ebbf8bcb097540709f9d46f347dfe784
Autor:
Nicole Weisschuh, Anja K Mayer, Tim M Strom, Susanne Kohl, Nicola Glöckle, Max Schubach, Sten Andreasson, Antje Bernd, David G Birch, Christian P Hamel, John R Heckenlively, Samuel G Jacobson, Christina Kamme, Ulrich Kellner, Erdmute Kunstmann, Pietro Maffei, Charlotte M Reiff, Klaus Rohrschneider, Thomas Rosenberg, Günther Rudolph, Rita Vámos, Balázs Varsányi, Richard G Weleber, Bernd Wissinger
Publikováno v:
PLoS ONE, Vol 11, Iss 1, p e0145951 (2016)
Retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by clinical variability and pronounced genetic heterogeneity. The different nonsyndromic and syndromic forms of RD can be attributed to mutations in more than 200
Externí odkaz:
https://doaj.org/article/3266adb14a06463ea339fc8ac073fe8e
Autor:
Laura Kuehlewein, Antje Bernd, Susanne Kohl, Ditta Zobor, Fadi Nasser, Nicole Weisschuh, Saskia Biskup, Bernd Wissinger, Eberhart Zrenner, Florian Battke, Katarina Stingl, Eva Weber, Carolin D Obermaier
Publikováno v:
Human mutationREFERENCES. 41(9)
We aimed to unravel the molecular genetic basis of inherited retinal degeneration (IRD) in a comprehensive cohort of patients diagnosed in the largest center for IRD in Germany. A cohort of 2,158 affected patients from 1,785 families diagnosed with I
Publikováno v:
Medizinische Genetik. 25:469-474
Zusammenfassung Retinale Ionenkanalerkrankungen sind klinisch und genetisch sehr heterogen. Die bisher identifizierten krankheitsassoziierten Ionenkanäle umfassen zyklisch nukleotidgesteuerte (CNG-)Kanäle, spannungsgesteuerte Kalium- und Kalziumkan
Autor:
John R. Heckenlively, Tim M. Strom, Anja K. Mayer, David G. Birch, Charlotte Reiff, Christina Kamme, Balázs Varsányi, Sten Andréasson, Antje Bernd, Thomas Rosenberg, Nicole Weisschuh, Klaus Rohrschneider, Nicola Glöckle, Rita Vámos, Günther Rudolph, Ulrich Kellner, Pietro Maffei, Susanne Kohl, Erdmute Kunstmann, Bernd Wissinger, Christian P. Hamel, Max Schubach, Samuel G. Jacobson, Richard G. Weleber
Publikováno v:
PLoS ONE
PLoS ONE, Vol 11, Iss 1, p e0145951 (2016)
PLoS ONE, Public Library of Science, 2016, 11 (1), pp.e0145951. ⟨10.1371/journal.pone.0145951⟩
PLoS ONE 11:e0145951 (2016)
PLoS ONE, Vol 11, Iss 1, p e0145951 (2016)
PLoS ONE, Public Library of Science, 2016, 11 (1), pp.e0145951. ⟨10.1371/journal.pone.0145951⟩
PLoS ONE 11:e0145951 (2016)
International audience; Retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by clinical variability and pronounced genetic heterogeneity. The different nonsyndromic and syndromic forms of RD can be attributed to mu
Publikováno v:
Ophthalmic and Physiological Optics. 32:53-59
Purpose: The purpose of the study was to evaluate longitudinal visual acuity (VA) changes in cone (CD) and cone-rod dystrophies (CRD) in order to develop recommendations for follow-up strategies and to define an optimal time for potential therapeutic
Autor:
Ulrich Kellner, Bernd Wissinger, Eberhart Zrenner, Hélène Dollfus, Balázs Varsányi, Günter Rudolph, Susanne Kohl, Britta Baumann, John R. Heckenlively, Elfride De Baere, Thomas Rosenberg, Frans P.M. Cremers, Monika Andrassi-Darida, Christiane Wolf, Ditta Zobor, Simone Schaich, Astrid S. Plomp, Roberto Salati, Carel B. Hoyng, Péter Enyedi, Birgit Lorenz, Antje Bernd, Christoph Friedburg, Alexandra Sauer, Michael Bonin, Bart P. Leroy, Herbert Jägle
Publikováno v:
Human Mutation, 32, 1398-406
Human Mutation, 32, 12, pp. 1398-406
Human Mutation, 32, 1398-1406. Wiley-Liss Inc.
Human mutation, 32(12), 1398-1406. Wiley-Liss Inc.
Human Mutation, 32, 12, pp. 1398-406
Human Mutation, 32, 1398-1406. Wiley-Liss Inc.
Human mutation, 32(12), 1398-1406. Wiley-Liss Inc.
Item does not contain fulltext Cone dystrophy with supernormal rod response (CDSRR) is considered to be a very rare autosomal recessive retinal disorder. CDSRR is associated with mutations in KCNV2, a gene that encodes a modulatory subunit (Kv8.2) of
Publikováno v:
Der Ophthalmologe. 98:451-455
Zielsetzung. Untersucht wird der Einfluss einer lokalen Dorzolamid-Applikation auf das Gesichtsfeld und die okulare Hamodynamik beim Glaukom. Methodik. In einer retrospektiven, nicht maskierten klinischen Studie wurden 28 Patienten (28 Augen) mit pri
Publikováno v:
Advances in experimental medicine and biology. 723
Publikováno v:
Ophthalmicphysiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists). 32(1)
The purpose of the study was to evaluate longitudinal visual acuity (VA) changes in cone (CD) and cone-rod dystrophies (CRD) in order to develop recommendations for follow-up strategies and to define an optimal time for potential therapeutic interven