Anzahl der Einträge: 27.
Artikel
Cardon, Iseline ![ORCID 0000-0001-5533-4727](/images/orcid_16x16.gif)
,
Grobecker, Sonja,
Kücükoktay, Selin,
Bader, Stefanie ![ORCID 0009-0000-7271-342X](/images/orcid_16x16.gif)
,
Jahner, Tatjana,
Nothdurfter, Caroline,
Koschitzki, Kevin,
Berneburg, Mark ![ORCID 0000-0002-5344-4970](/images/orcid_16x16.gif)
,
Weber, Bernhard H. F. ![ORCID 0000-0002-8808-7723](/images/orcid_16x16.gif)
,
Stöhr, Heidi,
Höring, Marcus ![ORCID 0000-0002-3651-392X](/images/orcid_16x16.gif)
,
Liebisch, Gerhard ![ORCID 0000-0003-4886-0811](/images/orcid_16x16.gif)
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Braun, Frank K.,
Rothammer-Hampl, Tanja,
Riemenschneider, Markus J. ![ORCID 0000-0002-3742-2982](/images/orcid_16x16.gif)
,
Rupprecht, Rainer,
Milenkovic, Vladimir M. ![ORCID 0000-0002-6050-8071](/images/orcid_16x16.gif)
und
Wetzel, Christian H. ![ORCID 0000-0002-5762-0003](/images/orcid_16x16.gif)
(2024)
Mitochondrial and Cellular Function in Fibroblasts, Induced Neurons, and Astrocytes Derived from Case Study Patients: Insights into Major Depression as a Mitochondria-Associated Disease.
International Journal of Molecular Sciences 25 (2), S. 963.
Gersch, Julia,
Hufendiek, Katerina ![ORCID 0000-0003-3996-7844](/images/orcid_16x16.gif)
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Delarocque, Julien ![ORCID 0000-0002-4598-3499](/images/orcid_16x16.gif)
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Framme, Carsten,
Jacobsen, Christina ![ORCID 0000-0001-6888-2992](/images/orcid_16x16.gif)
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Stöhr, Heidi,
Kellner, Ulrich ![ORCID 0000-0001-5221-4631](/images/orcid_16x16.gif)
und
Hufendiek, Karsten ![ORCID 0000-0003-3996-7844](/images/orcid_16x16.gif)
(2022)
Investigation of Structural Alterations in Inherited Retinal Diseases: A Quantitative SD-OCT-Analysis of Retinal Layer Thicknesses in Light of Underlying Genetic Mutations.
International Journal of Molecular Sciences 23 (24), S. 16007.
Volltext nicht vorhanden.
Runhart, Esmee H.,
Khan, Mubeen,
Cornelis, Stéphanie S.,
Roosing, Susanne,
Del Pozo-Valero, Marta,
Lamey, Tina M.,
Liskova, Petra ![ORCID 0000-0001-7834-8486](/images/orcid_16x16.gif)
,
Roberts, Lisa ![ORCID 0000-0001-6766-0255](/images/orcid_16x16.gif)
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Stöhr, Heidi,
Klaver, Caroline C. W.,
Hoyng, Carel B.,
Cremers, Frans P. M.,
Dhaenens, Claire-Marie,
AlTabishi, Alaa,
Ayuso, Carmen,
Banfi, Sandro,
Ben-Yosef, Tamar,
van den Born, L. Ingeborgh,
Fakin, Ana,
Farrar, G. Jane,
Ferraz Sallum, Juliana Maria,
Fujinami, Kaoru,
Gorin, Michael B.,
Hlavata, Lucia,
Kamakari, Smaragda,
Kousal, Bohdan,
MacDonald, Ian M.,
McLaren, Terri L.,
Matynia, Anna,
Oldak, Monika,
Podhajcer, Osvaldo L.,
Ramesar, Raj,
De Roach, John N.,
Sharon, Dror,
Simonelli, Francesca,
Testa, Francesco,
Thompson, Jennifer A.,
Tracewska, Anna M.,
Vincent, Andrea L. und
Weber, Bernhard H. F.
(2020)
Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.
JAMA Ophthalmology 138 (10), S. 1035.
Volltext nicht vorhanden.
Hufendiek, Karsten ![ORCID 0000-0002-1796-3976](/images/orcid_16x16.gif)
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Hufendiek, Katerina ![ORCID 0000-0002-1796-3976](/images/orcid_16x16.gif)
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Jägle, Herbert,
Stöhr, Heidi,
Book, Marius ![ORCID 0000-0002-5178-8673](/images/orcid_16x16.gif)
,
Spital, Georg,
Rustambayova, Günay,
Framme, Carsten,
Weber, Bernhard H. F.,
Renner, Agnes B. und
Kellner, Ulrich
(2020)
Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene.
International Journal of Molecular Sciences 21 (24), S. 9353.
Volltext nicht vorhanden.
Nasser, Fadi,
Kempf, Melanie,
Kurtenbach, Anne,
Stöhr, Heidi,
Weber, Bernhard H. F.,
Neuhaus, Christine,
Rating, Philipp und
Zrenner, Eberhart
(2020)
Correlating Adaptive Optics Images to Clinical Findings in Juvenile Macular Dystrophy with Hypotrichosis in Siblings with Homozygous <b><i>CDH3</i></b> Pathogenic Variation.
Ophthalmic Research 63 (2), S. 141-151.
Volltext nicht vorhanden.
Khan, Mubeen,
Cornelis, Stéphanie S.,
Pozo-Valero, Marta Del,
Whelan, Laura,
Runhart, Esmee H.,
Mishra, Ketan ![ORCID 0000-0001-6175-6643](/images/orcid_16x16.gif)
,
Bults, Femke,
AlSwaiti, Yahya,
AlTalbishi, Alaa,
De Baere, Elfride,
Banfi, Sandro,
Banin, Eyal,
Bauwens, Miriam,
Ben-Yosef, Tamar,
Boon, Camiel J. F.,
van den Born, L. Ingeborgh,
Defoort, Sabine,
Devos, Aurore,
Dockery, Adrian ![ORCID 0000-0002-3423-2542](/images/orcid_16x16.gif)
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Dudakova, Lubica ![ORCID 0000-0003-4718-8955](/images/orcid_16x16.gif)
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Fakin, Ana,
Farrar, G. Jane,
Sallum, Juliana Maria Ferraz,
Fujinami, Kaoru,
Gilissen, Christian ![ORCID 0000-0003-1693-9699](/images/orcid_16x16.gif)
,
Glavač, Damjan,
Gorin, Michael B.,
Greenberg, Jacquie,
Hayashi, Takaaki,
Hettinga, Ymkje M.,
Hoischen, Alexander ![ORCID 0000-0002-8072-4476](/images/orcid_16x16.gif)
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Hoyng, Carel B.,
Hufendiek, Karsten,
Jägle, Herbert,
Kamakari, Smaragda,
Karali, Marianthi,
Kellner, Ulrich,
Klaver, Caroline C. W.,
Kousal, Bohdan ![ORCID 0000-0003-2824-2266](/images/orcid_16x16.gif)
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Lamey, Tina M.,
MacDonald, Ian M.,
Matynia, Anna,
McLaren, Terri L.,
Mena, Marcela D. ![ORCID 0000-0002-8734-9031](/images/orcid_16x16.gif)
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Meunier, Isabelle,
Miller, Rianne,
Newman, Hadas,
Ntozini, Buhle,
Oldak, Monika ![ORCID 0000-0002-4216-9141](/images/orcid_16x16.gif)
,
Pieterse, Marc,
Podhajcer, Osvaldo L.,
Puech, Bernard,
Ramesar, Raj,
Rüther, Klaus,
Salameh, Manar,
Salles, Mariana Vallim,
Sharon, Dror,
Simonelli, Francesca,
Spital, Georg,
Steehouwer, Marloes,
Szaflik, Jacek P.,
Thompson, Jennifer A.,
Thuillier, Caroline,
Tracewska, Anna M. ![ORCID 0000-0001-9690-4458](/images/orcid_16x16.gif)
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van Zweeden, Martine,
Vincent, Andrea L.,
Zanlonghi, Xavier,
Liskova, Petra ![ORCID 0000-0001-7834-8486](/images/orcid_16x16.gif)
,
Stöhr, Heidi,
Roach, John N. De,
Ayuso, Carmen,
Roberts, Lisa ![ORCID 0000-0001-6766-0255](/images/orcid_16x16.gif)
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Weber, Bernhard H. F.,
Dhaenens, Claire‐Marie und
Cremers, Frans P. M.
(2020)
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Genetics in Medicine 22 (7), S. 1235-1246.
Volltext nicht vorhanden.
Khan, Mubeen,
Cornelis, Stéphanie S.,
Khan, Muhammad Imran,
Elmelik, Duaa,
Manders, Eline,
Bakker, Sem,
Derks, Ronny,
Neveling, Kornelia,
Vorst, Maartje,
Gilissen, Christian,
Meunier, Isabelle,
Defoort, Sabine,
Puech, Bernard,
Devos, Aurore,
Schulz, Heidi L.,
Stöhr, Heidi,
Grassmann, Felix ![ORCID 0000-0003-1390-7528](/images/orcid_16x16.gif)
,
Weber, Bernhard H. F.,
Dhaenens, Claire‐Marie und
Cremers, Frans P. M.
(2019)
Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease.
Human Mutation 40 (10), S. 1749-1759.
Volltext nicht vorhanden.
Sangermano, Riccardo ![ORCID 0000-0001-8657-0810](/images/orcid_16x16.gif)
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Garanto, Alejandro ![ORCID 0000-0001-5721-1560](/images/orcid_16x16.gif)
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Khan, Mubeen,
Runhart, Esmee H.,
Bauwens, Miriam,
Bax, Nathalie M.,
van den Born, L. Ingeborgh,
Khan, Muhammad Imran,
Cornelis, Stéphanie S.,
Verheij, Joke B. G. M.,
Pott, Jan-Willem R.,
Thiadens, Alberta A. H. J.,
Klaver, Caroline C. W.,
Puech, Bernard,
Meunier, Isabelle,
Naessens, Sarah,
Arno, Gavin,
Fakin, Ana,
Carss, Keren J.,
Raymond, F. Lucy,
Webster, Andrew R.,
Dhaenens, Claire-Marie,
Stöhr, Heidi,
Grassmann, Felix ![ORCID 0000-0003-1390-7528](/images/orcid_16x16.gif)
,
Weber, Bernhard H. F.,
Hoyng, Carel B.,
De Baere, Elfride,
Albert, Silvia ![ORCID 0000-0002-6921-0351](/images/orcid_16x16.gif)
,
Collin, Rob W. J. und
Cremers, Frans P. M.
(2019)
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.
Genetics in Medicine 21 (8), S. 1751-1760.
Volltext nicht vorhanden.
Müller, Philipp L.,
Pfau, Maximilian ![ORCID 0000-0001-9761-9640](/images/orcid_16x16.gif)
,
Möller, Philipp T.,
Nadal, Jennifer,
Schmid, Matthias ![ORCID 0000-0002-0788-0317](/images/orcid_16x16.gif)
,
Lindner, Moritz ![ORCID 0000-0002-4416-3421](/images/orcid_16x16.gif)
,
de Sisternes, Luis,
Stöhr, Heidi,
Weber, Bernhard H. F.,
Neuhaus, Christine,
Herrmann, Philipp,
Schmitz-Valckenberg, Steffen,
Holz, Frank G. und
Fleckenstein, Monika
(2018)
Choroidal Flow Signal in Late-Onset Stargardt Disease and Age-Related Macular Degeneration: An OCT-Angiography Study.
Investigative Opthalmology & Visual Science 59 (4), AMD122.
Volltext nicht vorhanden.
Garces, Fabian,
Jiang, Kailun,
Molday, Laurie L.,
Stöhr, Heidi,
Weber, Bernhard H.,
Lyons, Christopher J.,
Maberley, David und
Molday, Robert S.
(2018)
Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease.
Investigative Opthalmology & Visual Science 59 (6), S. 2305.
Volltext nicht vorhanden.
Brandl, Caroline ![ORCID 0000-0001-8223-6137](/images/orcid_16x16.gif)
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Schulz, Heidi,
Charbel Issa, Peter,
Birtel, Johannes,
Bergholz, Richard,
Lange, Clemens,
Dahlke, Claudia,
Zobor, Ditta,
Weber, Bernhard und
Stöhr, Heidi
(2017)
Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions.
Genes 8 (170), S. 1-14.
Neuhaus, Christine,
Eisenberger, Tobias,
Decker, Christian,
Nagl, Sandra,
Blank, Cornelia,
Pfister, Markus,
Kennerknecht, Ingo,
Müller-Hofstede, Cornelie,
Charbel Issa, Peter,
Heller, Raoul,
Beck, Bodo,
Rüther, Klaus,
Mitter, Diana,
Rohrschneider, Klaus,
Steinhauer, Ute,
Korbmacher, Heike M.,
Huhle, Dagmar,
Elsayed, Solaf M.,
Taha, Hesham M.,
Baig, Shahid M.,
Stöhr, Heidi,
Preising, Markus,
Markus, Susanne,
Moeller, Fabian,
Lorenz, Birgit,
Nagel-Wolfrum, Kerstin,
Khan, Arif O. und
Bolz, Hanno J.
(2017)
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.
Molecular Genetics & Genomic Medicine 5 (5), S. 531-552.
Volltext nicht vorhanden.
Kellner, S.,
Stöhr, Heidi,
Fiebig, B.,
Weinitz, S.,
Farmand, G.,
Kellner, U. und
Weber, Bernhard H. F. ![ORCID 0000-0002-8808-7723](/images/orcid_16x16.gif)
(2016)
Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256G > A Mutation in BEST1.
Ophthalmic Genetics 37, S. 201-208.
Volltext nicht vorhanden.
Chen, C. J.,
Kaufman, S.,
Packo, K.,
Stöhr, Heidi,
Weber, Bernhard H. F. ![ORCID 0000-0002-8808-7723](/images/orcid_16x16.gif)
und
Goldberg, M. F.
(2016)
Long-Term Macular Changes in the First Proband of Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Due to a Newly Identified Mutation in BEST1.
Ophthalmic Genetics 37, S. 102-108.
Volltext nicht vorhanden.
Capone, Carmen,
Cognat, Emmanuel ![ORCID 0000-0002-3521-5832](/images/orcid_16x16.gif)
,
Ghezali, Lamia,
Baron-Menguy, Céline,
Aubin, Déborah,
Mesnard, Laurent,
Stöhr, Heidi,
Domenga-Denier, Valérie,
Nelson, Mark T. ![ORCID 0000-0002-6608-8784](/images/orcid_16x16.gif)
und
Joutel, Anne ![ORCID 0000-0003-3963-3860](/images/orcid_16x16.gif)
(2016)
Reducing Timp3 or vitronectin ameliorates disease manifestations in CADASIL mice.
Annals of Neurology 79 (3), S. 387-403.
Volltext nicht vorhanden.
Kellner, U.,
Kellner, S.,
Weinitz, S.,
Farmand, G.,
Weber, Bernhard H. F. ![ORCID 0000-0002-8808-7723](/images/orcid_16x16.gif)
und
Stöhr, Heidi
(2015)
Inherited Retinal or Optic Nerve Disorders – Five Steps to Diagnosis (Originaltitel: Erbliche Netzhaut- und Sehbahnerkrankungen – 5 Schritte zur Diagnose).
Klinische Monatsblätter für Augenheilkunde 232, S. 250-258.
Volltext nicht vorhanden.
Gliem, M.,
Müller, Philipp L.,
Mangold, E.,
Bolz, H. J.,
Stöhr, Heidi,
Weber, Bernhard H. F. ![ORCID 0000-0002-8808-7723](/images/orcid_16x16.gif)
,
Holz, F. G. und
Issa, Peter Charbel
(2015)
Reticular Pseudodrusen in Sorsby Fundus Dystrophy.
Ophthalmology 122, S. 1555-1562.
Volltext nicht vorhanden.
Gliem, M.,
Müller, P. L.,
Mangold, E.,
Holz, Frank G.,
Bolz, H. J.,
Stöhr, Heidi und
Weber, Bernhard H. F. ![ORCID 0000-0002-8808-7723](/images/orcid_16x16.gif)
(2015)
Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes.
Investigative Ophthalmology & Visual Science (IOVS) 56, S. 2664-2276.
Volltext nicht vorhanden.
Friedrich, U.,
Stöhr, Heidi,
Hilfinger, D.,
Loenhardt, T.,
Schachner, M.,
Langmann, Thomas und
Weber, Bernhard H. F. ![ORCID 0000-0002-8808-7723](/images/orcid_16x16.gif)
(2011)
The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis.
Human Molecular Genetics 20, S. 1132-1142.
Volltext nicht vorhanden.
Langmann, Thomas,
Di Gioia, S. A.,
Rau, I.,
Stöhr, Heidi,
Maksimovic, N. S.,
Corbo, J. C.,
Renner, Agnes B.,
Zrenner, Eberhart,
Kumaramanickavel, G.,
Karlstetter, Marcus,
Arsenijevic, Y. und
Weber, Bernhard H. F. ![ORCID 0000-0002-8808-7723](/images/orcid_16x16.gif)
(2010)
Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.
American Journal of Human Genetics 87, S. 376-381.
Volltext nicht vorhanden.
Janssen, A.,
Hoellenriegel, J.,
Fogarasi, M.,
Schrewe, H.,
Seeliger, M.,
Tamm, Ernst R. ![ORCID 0000-0002-6679-8743](/images/orcid_16x16.gif)
,
Ohlmann, Andreas ![ORCID 0000-0002-7101-9361](/images/orcid_16x16.gif)
,
May, C. A.,
Weber, Bernhard H. F. ![ORCID 0000-0002-8808-7723](/images/orcid_16x16.gif)
und
Stöhr, Heidi
(2008)
Abnormal vessel formation in the choroid of mice lacking tissue inhibitor of metalloprotease-3.
Investigative Ophthalmology & Visual Science (IOVS) 49, S. 2812-2822.
Volltext nicht vorhanden.
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