Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Vincent Lepori"'
Autor:
Vincent Lepori, Franziska Mühlhause, Adrian C. Sewell, Vidhya Jagannathan, Nils Janzen, Marco Rosati, Filipe Miguel Maximiano Alves de Sousa, Aurélie Tschopp, Gertraud Schüpbach, Kaspar Matiasek, Andrea Tipold, Tosso Leeb, Marion Kornberg
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 8, Iss 5, Pp 1545-1554 (2018)
Several enzymes are involved in fatty acid oxidation, which is a key process in mitochondrial energy production. Inherited defects affecting any step of fatty acid oxidation can result in clinical disease. We present here an extended family of German
Externí odkaz:
https://doaj.org/article/49923d882cad4f93915e03840e17cddc
Autor:
Franziska Mühlhause, Marion Kornberg, Tosso Leeb, Andrea Tipold, Karl Rohn, Vincent Lepori, Adrian C. Sewell
Publikováno v:
Tierärztliche Praxis Ausgabe K: Kleintiere / Heimtiere. 47:402-410
Zusammenfassung Gegenstand und Ziel Die belastungsabhängige metabolische Myopathie beim Deutschen Jagdterrier ist eine autosomal-rezessive Erbkrankheit, die aufgrund einer Punktmutation zu einem Enzymdefekt der sehr langkettigen Acyl-CoA-Dehydrogena
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::efaee4e2ada0640c1ffa0a237e8480bf
https://doi.org/10.1055/a-1027-2533
https://doi.org/10.1055/a-1027-2533
Autor:
Franziska Mühlhause, Vidhya Jagannathan, Marco Rosati, Gertraud Schüpbach, Aurélie Tschopp, Vincent Lepori, Kaspar Matiasek, Andrea Tipold, Tosso Leeb, Nils Janzen, Marion Kornberg, Filipe Maximiano Sousa, Adrian C. Sewell
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 8, Iss 5, Pp 1545-1554 (2018)
Several enzymes are involved in fatty acid oxidation, which is a key process in mitochondrial energy production. Inherited defects affecting any step of fatty acid oxidation can result in clinical disease. We present here an extended family of German
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55cfd003c82e2a2c9779b94ecd33b257
https://doi.org/10.1534/g3.118.200084
https://doi.org/10.1534/g3.118.200084
Autor:
Franck Forterre, Vincent Lepori
Publikováno v:
kleintier konkret. 20:11-16
Diaphysare Femurfrakturen kommen bei der Katze relativ haufig vor und basieren meist auf einem traumatischen Ursprung. Es gibt mehrere Moglichkeiten, die Frakturen zu fixieren, aber es ist schwierig zu sagen, welche Methode die beste ist. Die Autoren
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ba213f36c02588ba6c76d362a645230c
https://doi.org/10.1055/s-0042-118004
https://doi.org/10.1055/s-0042-118004
Autor:
Franziska, Mühlhause, Andrea, Tipold, Karl, Rohn, Vincent, Lepori, Tosso, Leeb, Adrian C, Sewell, Marion, Kornberg
Publikováno v:
Tierarztliche Praxis. Ausgabe K, Kleintiere/Heimtiere. 47(6)
Exercise induced metabolic myopathy in German Hunting Terrier dogs is an autosomal-recessively inherited disorder, caused by a nonsense variant of the gene encoding for the very long-chain acyl-CoA-dehydrogenase (VLCAD) enzyme. Clinical signs include
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c62b27930d55091edb63efd80c1e781b
https://pubmed.ncbi.nlm.nih.gov/31814088
https://pubmed.ncbi.nlm.nih.gov/31814088
Autor:
Petra, Hug, Linda, Anderegg, Nicole, Dürig, Vincent, Lepori, Vidhya, Jagannathan, Bernhard, Spiess, Marianne, Richter, Tosso, Leeb
Publikováno v:
Genes
Causative genetic variants for more than 30 heritable eye disorders in dogs have been reported. For other clinically described eye disorders, the genetic cause is still unclear. We investigated four Golden Retriever litters segregating for highly var
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b140421643dd8d58208f685d221fd544
https://pubmed.ncbi.nlm.nih.gov/31207931
https://pubmed.ncbi.nlm.nih.gov/31207931
Autor:
Nicole Dürig, Tosso Leeb, Bernhard M. Spiess, Vincent Lepori, Petra Hug, Vidhya Jagannathan, Marianne Richter, Linda Anderegg
Publikováno v:
Hug, Petra; Anderegg, Linda; Dürig, Nicole; Lepori, Vincent; Jagannathan, Vidya; Spiess, Bernhard; Richter, Marianne; Leeb, Tosso (2019). A SIX6 Nonsense Variant in Golden Retrievers with Congenital Eye Malformations. Genes, 10(6) MDPI, Molecular Diversity Preservation International 10.3390/genes10060454
Genes, Vol 10, Iss 6, p 454 (2019)
Genes
Volume 10
Issue 6
Genes, Vol 10, Iss 6, p 454 (2019)
Genes
Volume 10
Issue 6
Causative genetic variants for more than 30 heritable eye disorders in dogs have been reported. For other clinically described eye disorders, the genetic cause is still unclear. We investigated four Golden Retriever litters segregating for highly var
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7f7f4b1af204f1bc4fdba8b46c08ed9
Autor:
V. Jagannathan, S. Hadji Rasouliha, Michaela Wiedmer, Anna Letko, Robert Loechel, Nicole Dürig, Joëlle Dietrich, Sheila M. Schmutz, Vincent Lepori, Nico Mauri, Michaela Drögemüller, Hannes Lohi, Marjo K. Hytönen, Tosso Leeb, Alexandra Kehl
Publikováno v:
Animal genetics. 49(4)
Loss-of-function variants in the MC1R gene cause recessive red or yellow coat-colour phenotypes in many species. The canine MC1R:c.916C>T (p.Arg306Ter) variant is widespread and found in a homozygous state in many uniformly yellow- or red-coloured do
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6d41e89b6626c626528936ccae2843c
https://pubmed.ncbi.nlm.nih.gov/29932470
https://pubmed.ncbi.nlm.nih.gov/29932470