Browsing Universitätsbibliographie by Author "Reuter, Peggy"

Now showing items 1-16 of 16

A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect

Kohl, Susanne; Llavona, Pablo; Sauer, Alexandra; Reuter, Peggy; Weisschuh, Nicole; Kempf, Melanie; Dehmelt, Florian Alexander; Arrenberg, Aristides B.; Sliesoraityte, Ieva; Zrenner, Eberhart; van Schooneveld, Mary J.; Rudolph, Gunther; Kuhlewein, Laura; Wissinger, Bernd (2021)
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy

Burkard, Markus; Kohl, Susanne; Kraetzig, Timm; Tanimoto, Naoyuki; Brennenstuhl, Christina; Bausch, Anne E.; Junger, Katrin; Reuter, Peggy; Sothilingam, Vithiyanjali; Beck, Susanne C.; Huber, Gesine; Ding, Xi-Qin; Mayer, Anja K.; Baumann, Britta; Weisschuh, Nicole; Zobor, Ditta; Hahn, Gesa-Astrid; Kellner, Ulrich; Venturelli, Sascha; Becirovic, Elvir; Issa, Peter Charbel; Koenekoop, Robert K.; Rudolph, Guenther; Heckenlively, John; Sieving, Paul; Weleber, Richard G.; Hamel, Christian; Zong, Xiangang; Biel, Martin; Lukowski, Robert; Seeliger, Matthias W.; Michalakis, Stylianos; Wissinger, Bernd; Ruth, Peter (2018)
An early nonsense mutation facilitates the expression of a short isoform of CNGA3 by alternative translation initiation

Taeger, Joachim; Kohl, Susanne; Birch, David G.; Wheaton, Dianna K. H.; Wissinger, Bernd; Reuter, Peggy (2018)
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients

Mayer, Anja K.; Van Cauwenbergh, Caroline; Rother, Christine; Baumann, Britta; Reuter, Peggy; De Baere, Elfride; Wissinger, Bernd; Kohl, Susanne (2017)
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Solaki, Maria; Baumann, Britta; Reuter, Peggy; Andreasson, Sten; Audo, Isabelle; Ayuso, Carmen; Balousha, Ghassan; Benedicenti, Francesco; Birch, David; Bitoun, Pierre; Blain, Delphine; Bocquet, Beatrice; Branham, Kari; Catala-Mora, Jaume; De Baere, Elfride; Dollfus, Helene; Falana, Mohammed; Giorda, Roberto; Golovleva, Irina; Gottlob, Irene; Heckenlively, John R.; Jacobson, Samuel G.; Jones, Kaylie; Jaegle, Herbert; Janecke, Andreas R.; Kellner, Ulrich; Liskova, Petra; Lorenz, Birgit; Martorell-Sampol, Loreto; Messias, Andre; Meunier, Isabelle; Belga Ottoni Porto, Fernanda; Papageorgiou, Eleni; Plomp, Astrid S.; de Ravel, Thomy J. L.; Reiff, Charlotte M.; Renner, Agnes B.; Rosenberg, Thomas; Rudolph, Guenther; Salati, Roberto; Sener, E. Cumhur; Sieving, Paul A.; Stanzial, Franco; Traboulsi, Elias, I; Tsang, Stephen H.; Varsanyi, Balazs; Weleber, Richard G.; Zobor, Ditta; Stingl, Katarina; Wissinger, Bernd; Kohl, Susanne (2022)
Development of a pharmacorphore model for pharmacological chaperones targeting mutant trafficking-deficient CNG channels

Schärfe, Charlotta; Taeger, J.; Reuter, P.; Fischer, N.M.; Krüger, Jens; Wissinger, B.; Kohlbacher, Oliver (2013)
Effective splicing restoration of a deep-intronic ABCA4 variant in cone photoreceptor precursor cells by CRISPR/SpCas9 approaches

De Angeli, Pietro; Reuter, Peggy; Hauser, Stefan; Schoels, Ludger; Stingl, Katarina; Wissinger, Bernd; Kohl, Susanne (2022)
Erbliche Ionenkanalerkrankungen der Netzhaut

Reuter, P.; Kohl, S.; Bernd, A.; Wissinger, B. (2013)
Functional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia

Solaki, Maria; Wissinger, Bernd; Kohl, Susanne; Reuter, Peggy (2023)
Funktionelle Analyse mutanter Zapfen CNG-Kanäle und Identifikation und Charakterisierung von cnga3 und cngb3 im Zebrafisch

Reuter, Peggy (2013)
Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy

Shaikh, Rehan S.; Reuter, Peggy; Sisk, Robert A.; Kausar, Tasleem; Shahzad, Mohsin; Maqsood, Muhammad I.; Yousif, Ateeq; Ali, Muhammad; Riazuddin, Saima; Wissinger, Bernd; Ahmed, Zubair M. (2015)
Identification of Chemical and Pharmacological Chaperones for Correction of Trafficking-Deficient Mutant Cyclic Nucleotide-Gated A3 Channels

Täger, Joachim; Wissinger, Bernd; Kohl, Susanne; Reuter, Peggy (2021)
Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin

Ravesh, Zeinab; El Asrag, Mohammed E.; Weisschuh, Nicole; McKibbin, Martin; Reuter, Peggy; Watson, Christopher M.; Baumann, Britta; Poulter, James A.; Sajid, Sundus; Panagiotou, Evangelia S.; O'Sullivan, James; Abdelhamed, Zakia; Bonin, Michael; Soltanifar, Mehdi; Black, Graeme C. M.; Din, Muhammad Aminud; Toomes, Carmel; Ansar, Muhammad; Inglehearn, Chris F.; Wissinger, Bernd; Ali, Manir (2015)
Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa

Issa, Peter Charbel; Reuter, Peggy; Kuhlewein, Laura; Birtel, Johannes; Gliem, Martin; Tropitzsch, Anke; Whitcroft, Katherine L.; Bolz, Hanno J.; Ishihara, Kenji; MacLaren, Robert E.; Downes, Susan M.; Oishi, Akio; Zrenner, Eberhart; Kohl, Susanne; Hummel, Thomas (2018)
Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3-Associated Autosomal Recessive Achromatopsia

Kohl, Susanne; Baumann, Britta; Dassie, Francesca; Mayer, Anja K.; Solaki, Maria; Reuter, Peggy; Kuehlewein, Laura; Wissinger, Bernd; Maffei, Pietro (2021)
Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing

Reuter, Peggy; Walter, Magdalena; Kohl, Susanne; Weisschuh, Nicole (2023)

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