Relationship of porcine IGF2 imprinting status to DNA methylation at the H19 DMD and the IGF2 DMRs 1 and 2

por Braunschweig, Martin H, Owczarek-Lipska, Marta, Stahlberger-Saitbekova, Nasikhat
Publicado 2011

Combining Engineered U1 snRNA and Antisense Oligonucleotides to Improve the Treatment of a BBS1 Splice Site Mutation

por Breuel, Saskia, Vorm, Mariann, Bräuer, Anja U., Owczarek-Lipska, Marta, Neidhardt, John
Publicado 2019

A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in RBM10

por Owczarek-Lipska, Marta, Markus, Fenja, Bültmann, Eva, Korenke, G. Christoph, Neidhardt, John
Publicado 2022

Translational Read-Through Therapy of RPGR Nonsense Mutations

por Vössing, Christine, Owczarek-Lipska, Marta, Nagel-Wolfrum, Kerstin, Reiff, Charlotte, Jüschke, Christoph, Neidhardt, John
Publicado 2020

Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption

por Jüschke, Christoph, Klopstock, Thomas, Catarino, Claudia B., Owczarek-Lipska, Marta, Wissinger, Bernd, Neidhardt, John
Publicado 2021

A Frameshift Mutation in the Cubilin Gene (CUBN) in Border Collies with Imerslund-Gräsbeck Syndrome (Selective Cobalamin Malabsorption)

por Owczarek-Lipska, Marta, Jagannathan, Vidhya, Drögemüller, Cord, Lutz, Sabina, Glanemann, Barbara, Leeb, Tosso, Kook, Peter H.
Publicado 2013

Skewed X-inactivation is associated with retinal dystrophy in female carriers of RPGR mutations

por Usman, Muhammad, Jüschke, Christoph, Song, Fei, Kastrati, Dennis, Owczarek-Lipska, Marta, Eilers, Jannis, Pauleikhoff, Laurenz, Lange, Clemens, Neidhardt, John
Publicado 2023

High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies

por Song, Fei, Owczarek-Lipska, Marta, Ahmels, Tim, Book, Marius, Aisenbrey, Sabine, Menghini, Moreno, Barthelmes, Daniel, Schrader, Stefan, Spital, Georg, Neidhardt, John
Publicado 2021

A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects

por Markus, Fenja, Kannengießer, Annika, Näder, Patricia, Atigbire, Paul, Scholten, Alexander, Vössing, Christine, Bültmann, Eva, Korenke, G. Christoph, Owczarek-Lipska, Marta, Neidhardt, John
Publicado 2021

The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family

por Reiff, Charlotte, Owczarek-Lipska, Marta, Spital, Georg, Röger, Carsten, Hinz, Hebke, Jüschke, Christoph, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Da Costa, Romain, Neidhardt, John
Publicado 2016

A COL11A2 Mutation in Labrador Retrievers with Mild Disproportionate Dwarfism

por Frischknecht, Mirjam, Niehof-Oellers, Helena, Jagannathan, Vidhya, Owczarek-Lipska, Marta, Drögemüller, Cord, Dietschi, Elisabeth, Dolf, Gaudenz, Tellhelm, Bernd, Lang, Johann, Tiira, Katriina, Lohi, Hannes, Leeb, Tosso
Publicado 2013

Rare variants in the GABA(A) receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes

por Markus, Fenja, Angelini, Chloé, Trimouille, Aurelien, Rudolf, Gabrielle, Lesca, Gaetan, Goizet, Cyril, Lasseaux, Eulalie, Arveiler, Benoit, van Slegtenhorst, Marjon, Brooks, Alice S., Abou Jamra, Rami, Korenke, Georg‐Christoph, Neidhardt, John, Owczarek‐Lipska, Marta
Publicado 2020

Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes

por Hytönen, Marjo K., Arumilli, Meharji, Lappalainen, Anu K., Owczarek-Lipska, Marta, Jagannathan, Vidhya, Hundi, Sruthi, Salmela, Elina, Venta, Patrick, Sarkiala, Eva, Jokinen, Tarja, Gorgas, Daniela, Kere, Juha, Nieminen, Pekka, Drögemüller, Cord, Lohi, Hannes
Publicado 2016

Two Loci on Chromosome 5 Are Associated with Serum IgE Levels in Labrador Retrievers

por Owczarek-Lipska, Marta, Lauber, Béatrice, Molitor, Vivianne, Meury, Sabrina, Kierczak, Marcin, Tengvall, Katarina, Webster, Matthew T., Jagannathan, Vidhya, Schlotter, Yvette, Willemse, Ton, Hendricks, Anke, Bergvall, Kerstin, Hedhammar, Åke, Andersson, Göran, Lindblad-Toh, Kerstin, Favrot, Claude, Roosje, Petra, Marti, Eliane, Leeb, Tosso
Publicado 2012

A Mutation in the SUV39H2 Gene in Labrador Retrievers with Hereditary Nasal Parakeratosis (HNPK) Provides Insights into the Epigenetics of Keratinocyte Differentiation

por Jagannathan, Vidhya, Bannoehr, Jeanette, Plattet, Philippe, Hauswirth, Regula, Drögemüller, Cord, Drögemüller, Michaela, Wiener, Dominique J., Doherr, Marcus, Owczarek-Lipska, Marta, Galichet, Arnaud, Welle, Monika M., Tengvall, Katarina, Bergvall, Kerstin, Lohi, Hannes, Rüfenacht, Silvia, Linek, Monika, Paradis, Manon, Müller, Eliane J., Roosje, Petra, Leeb, Tosso
Publicado 2013

Identification of Brain-Specific Treatment Effects in NPC1 Disease by Focusing on Cellular and Molecular Changes of Sphingosine-1-Phosphate Metabolism

por Gläser, Anne, Hammerl, Franziska, Gräler, Markus H., Coldewey, Sina M., Völkner, Christin, Frech, Moritz J., Yang, Fan, Luo, Jiankai, Tönnies, Eric, von Bohlen und Halbach, Oliver, Brandt, Nicola, Heimes, Diana, Neßlauer, Anna-Maria, Korenke, Georg Christoph, Owczarek-Lipska, Marta, Neidhardt, John, Rolfs, Arndt, Wree, Andreas, Witt, Martin, Bräuer, Anja Ursula
Publicado 2020