Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Elisabeth Dietschi"'
Autor:
Nico Mauri, Miriam Kleiter, Elisabeth Dietschi, Michael Leschnik, Sandra Högler, Michaela Wiedmer, Joëlle Dietrich, Diana Henke, Frank Steffen, Simone Schuller, Corinne Gurtner, Nadine Stokar-Regenscheit, Donal O’Toole, Thomas Bilzer, Christiane Herden, Anna Oevermann, Vidhya Jagannathan, Tosso Leeb
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 7, Iss 8, Pp 2729-2737 (2017)
Spongy degeneration with cerebellar ataxia (SDCA) is a genetically heterogeneous neurodegenerative disorder with autosomal recessive inheritance in Malinois dogs, one of the four varieties of the Belgian Shepherd breed. Using a combined linkage and h
Externí odkaz:
https://doaj.org/article/a879d1c09f304264b70568199fcf2f03
Autor:
Nico Mauri, Miriam Kleiter, Michael Leschnik, Sandra Högler, Elisabeth Dietschi, Michaela Wiedmer, Joëlle Dietrich, Diana Henke, Frank Steffen, Simone Schuller, Corinne Gurtner, Nadine Stokar-Regenscheit, Donal O’Toole, Thomas Bilzer, Christiane Herden, Anna Oevermann, Vidhya Jagannathan, Tosso Leeb
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 7, Iss 2, Pp 663-669 (2017)
Spongy degeneration with cerebellar ataxia (SDCA) is a severe neurodegenerative disease with monogenic autosomal recessive inheritance in Malinois dogs, one of the four varieties of the Belgian Shepherd breed. We performed a genetic investigation in
Externí odkaz:
https://doaj.org/article/7a89d3609a6741b482aa2aee18353e4b
Autor:
Bertram Brenig, Lilith Steingräber, Shuwen Shan, Fangzheng Xu, Marc Hirschfeld, Reiner Andag, Mirjam Spengeler, Elisabeth Dietschi, Reinhard Mischke, Tosso Leeb
Publikováno v:
Haematologica, Vol 104, Iss 11 (2019)
Hemophilia B is a classical monogenic, X-chromosomal, recessively transmitted bleeding disorder caused by genetic variants within the coagulation factor IX gene (F9). Although hemophilia B has been described in dogs, it has not yet been reported in t
Externí odkaz:
https://doaj.org/article/b109c6afdccd4cf9b33376f22f76cd50
Autor:
Thomas W Marchant, Elisabeth Dietschi, Ulrich Rytz, Peter Schawalder, Vidhya Jagannathan, Sheida Hadji Rasouliha, Corinne Gurtner, Andreas S Waldvogel, Ronan S Harrington, Michaela Drögemüller, Jeffrey Kidd, Elaine A Ostrander, Amanda Warr, Mick Watson, David Argyle, Gert Ter Haar, Dylan N Clements, Tosso Leeb, Jeffrey J Schoenebeck
Publikováno v:
PLoS Genetics, Vol 15, Iss 5, p e1008102 (2019)
In flat-faced dog breeds, air resistance caused by skull conformation is believed to be a major determinant of Brachycephalic Obstructive Airway Syndrome (BOAS). The clinical presentation of BOAS is heterogeneous, suggesting determinants independent
Externí odkaz:
https://doaj.org/article/402f2725caf44336a896c9672964d639
Autor:
Anina Bauer, Dominik P Waluk, Arnaud Galichet, Katrin Timm, Vidhya Jagannathan, Beyza S Sayar, Dominique J Wiener, Elisabeth Dietschi, Eliane J Müller, Petra Roosje, Monika M Welle, Tosso Leeb
Publikováno v:
PLoS Genetics, Vol 13, Iss 3, p e1006651 (2017)
Ichthyoses are a heterogeneous group of inherited cornification disorders characterized by generalized dry skin, scaling and/or hyperkeratosis. Ichthyosis vulgaris is the most common form of ichthyosis in humans and caused by genetic variants in the
Externí odkaz:
https://doaj.org/article/7a2c6c4a24fc4a2181d596809ad75188
Autor:
Kaisa Kyöstilä, Pernilla Syrjä, Vidhya Jagannathan, Gayathri Chandrasekar, Tarja S Jokinen, Eija H Seppälä, Doreen Becker, Michaela Drögemüller, Elisabeth Dietschi, Cord Drögemüller, Johann Lang, Frank Steffen, Cecilia Rohdin, Karin H Jäderlund, Anu K Lappalainen, Kerstin Hahn, Peter Wohlsein, Wolfgang Baumgärtner, Diana Henke, Anna Oevermann, Juha Kere, Hannes Lohi, Tosso Leeb
Publikováno v:
PLoS Genetics, Vol 11, Iss 4, p e1005169 (2015)
Inherited neurodegenerative disorders are debilitating diseases that occur across different species. We have performed clinical, pathological and genetic studies to characterize a novel canine neurodegenerative disease present in the Lagotto Romagnol
Externí odkaz:
https://doaj.org/article/29096210965a4aefadbe5af9c92fd53a
Autor:
Mirjam Frischknecht, Vidhya Jagannathan, Philippe Plattet, Markus Neuditschko, Heidi Signer-Hasler, Iris Bachmann, Alicja Pacholewska, Cord Drögemüller, Elisabeth Dietschi, Christine Flury, Stefan Rieder, Tosso Leeb
Publikováno v:
PLoS ONE, Vol 10, Iss 10, p e0140749 (2015)
The identification of quantitative trait loci (QTL) such as height and their underlying causative variants is still challenging and often requires large sample sizes. In humans hundreds of loci with small effects control the heritable portion of heig
Externí odkaz:
https://doaj.org/article/98ec712cbe9c4b5bb2fe1797a7863219
Autor:
Matteo Bianchi, Stina Dahlgren, Jonathan Massey, Elisabeth Dietschi, Marcin Kierczak, Martine Lund-Ziener, Katarina Sundberg, Stein Istre Thoresen, Olle Kämpe, Göran Andersson, William E R Ollier, Åke Hedhammar, Tosso Leeb, Kerstin Lindblad-Toh, Lorna J Kennedy, Frode Lingaas, Gerli Rosengren Pielberg
Publikováno v:
PLoS ONE, Vol 10, Iss 8, p e0134720 (2015)
Hypothyroidism is a complex clinical condition found in both humans and dogs, thought to be caused by a combination of genetic and environmental factors. In this study we present a multi-breed analysis of predisposing genetic risk factors for hypothy
Externí odkaz:
https://doaj.org/article/f66eef97c12d45698b7090acdfb853e3
Autor:
Mirjam Frischknecht, Helena Niehof-Oellers, Vidhya Jagannathan, Marta Owczarek-Lipska, Cord Drögemüller, Elisabeth Dietschi, Gaudenz Dolf, Bernd Tellhelm, Johann Lang, Katriina Tiira, Hannes Lohi, Tosso Leeb
Publikováno v:
PLoS ONE, Vol 8, Iss 3, p e60149 (2013)
We describe a mild form of disproportionate dwarfism in Labrador Retrievers, which is not associated with any obvious health problems such as secondary arthrosis. We designate this phenotype as skeletal dysplasia 2 (SD2). It is inherited as a monogen
Externí odkaz:
https://doaj.org/article/124797f3f0c14cd2a7279e8e5ad860b0
Autor:
Eija H Seppälä, Tarja S Jokinen, Masaki Fukata, Yuko Fukata, Matthew T Webster, Elinor K Karlsson, Sami K Kilpinen, Frank Steffen, Elisabeth Dietschi, Tosso Leeb, Ranja Eklund, Xiaochu Zhao, Jennifer J Rilstone, Kerstin Lindblad-Toh, Berge A Minassian, Hannes Lohi
Publikováno v:
PLoS Genetics, Vol 7, Iss 7, p e1002194 (2011)
One quadrillion synapses are laid in the first two years of postnatal construction of the human brain, which are then pruned until age 10 to 500 trillion synapses composing the final network. Genetic epilepsies are the most common neurological diseas
Externí odkaz:
https://doaj.org/article/824d6668b4be4103ae7df8238c81b8f8