Anzahl der Einträge: 27.
2024
Cardon, Iseline ,
Grobecker, Sonja,
Kücükoktay, Selin,
Bader, Stefanie ,
Jahner, Tatjana,
Nothdurfter, Caroline,
Koschitzki, Kevin,
Berneburg, Mark ,
Weber, Bernhard H. F. ,
Stöhr, Heidi,
Höring, Marcus ,
Liebisch, Gerhard ,
Braun, Frank K.,
Rothammer-Hampl, Tanja,
Riemenschneider, Markus J. ,
Rupprecht, Rainer ,
Milenkovic, Vladimir M. und
Wetzel, Christian H.
(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.
2022
Gersch, Julia,
Hufendiek, Katerina ,
Delarocque, Julien ,
Framme, Carsten,
Jacobsen, Christina ,
Stöhr, Heidi,
Kellner, Ulrich und
Hufendiek, Karsten
(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.
2021
2020
Runhart, Esmee H.,
Khan, Mubeen,
Cornelis, Stéphanie S.,
Roosing, Susanne,
Del Pozo-Valero, Marta,
Lamey, Tina M.,
Liskova, Petra ,
Roberts, Lisa ,
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 ,
Hufendiek, Katerina ,
Jägle, Herbert,
Stöhr, Heidi,
Book, Marius ,
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 ,
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 ,
Dudakova, Lubica ,
Fakin, Ana,
Farrar, G. Jane,
Sallum, Juliana Maria Ferraz,
Fujinami, Kaoru,
Gilissen, Christian ,
Glavač, Damjan,
Gorin, Michael B.,
Greenberg, Jacquie,
Hayashi, Takaaki,
Hettinga, Ymkje M.,
Hoischen, Alexander ,
Hoyng, Carel B.,
Hufendiek, Karsten,
Jägle, Herbert,
Kamakari, Smaragda,
Karali, Marianthi,
Kellner, Ulrich,
Klaver, Caroline C. W.,
Kousal, Bohdan ,
Lamey, Tina M.,
MacDonald, Ian M.,
Matynia, Anna,
McLaren, Terri L.,
Mena, Marcela D. ,
Meunier, Isabelle,
Miller, Rianne,
Newman, Hadas,
Ntozini, Buhle,
Oldak, Monika ,
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. ,
van Zweeden, Martine,
Vincent, Andrea L.,
Zanlonghi, Xavier,
Liskova, Petra ,
Stöhr, Heidi,
Roach, John N. De,
Ayuso, Carmen,
Roberts, Lisa ,
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.
2019
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 ,
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 ,
Garanto, Alejandro ,
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 ,
Weber, Bernhard H. F.,
Hoyng, Carel B.,
De Baere, Elfride,
Albert, Silvia ,
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.
2018
Müller, Philipp L.,
Pfau, Maximilian ,
Möller, Philipp T.,
Nadal, Jennifer,
Schmid, Matthias ,
Lindner, Moritz ,
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.
2017
Brandl, Caroline ,
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.
2016
Kellner, S.,
Stöhr, Heidi,
Fiebig, B.,
Weinitz, S.,
Farmand, G.,
Kellner, U. und
Weber, Bernhard H. F.
(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. 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 ,
Ghezali, Lamia,
Baron-Menguy, Céline,
Aubin, Déborah,
Mesnard, Laurent,
Stöhr, Heidi,
Domenga-Denier, Valérie,
Nelson, Mark T. und
Joutel, Anne
(2016)
Reducing Timp3 or vitronectin ameliorates disease manifestations in CADASIL mice.
Annals of Neurology 79 (3), S. 387-403.
Volltext nicht vorhanden.
2015
Kellner, U.,
Kellner, S.,
Weinitz, S.,
Farmand, G.,
Weber, Bernhard H. F. 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. ,
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.
(2015)
Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes.
Investigative Ophthalmology & Visual Science (IOVS) 56, S. 2664-2276.
Volltext nicht vorhanden.
2014
2013
2011
Friedrich, U.,
Stöhr, Heidi,
Hilfinger, D.,
Loenhardt, T.,
Schachner, M.,
Langmann, Thomas und
Weber, Bernhard H. F.
(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.
2010
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.
(2010)
Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.
American Journal of Human Genetics 87, S. 376-381.
Volltext nicht vorhanden.
2008
Janssen, A.,
Hoellenriegel, J.,
Fogarasi, M.,
Schrewe, H.,
Seeliger, M.,
Tamm, Ernst R. ,
Ohlmann, Andreas ,
May, C. A.,
Weber, Bernhard H. F. 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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