Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Robert Loechel"'
Publikováno v:
Genes; Volume 13; Issue 2; Pages: 334
Rudd Garces, Gabriela; Christen, Matthias; Loechel, Robert; Jagannathan, Vidhya; Leeb, Tosso (2022). FYCO1 Frameshift Deletion in Wirehaired Pointing Griffon Dogs with Juvenile Cataract. Genes, 13(2), p. 334. MDPI, Molecular Diversity Preservation International 10.3390/genes13020334
Rudd Garces, Gabriela; Christen, Matthias; Loechel, Robert; Jagannathan, Vidhya; Leeb, Tosso (2022). FYCO1 Frameshift Deletion in Wirehaired Pointing Griffon Dogs with Juvenile Cataract. Genes, 13(2), p. 334. MDPI, Molecular Diversity Preservation International 10.3390/genes13020334
Different breed-specific inherited cataracts have been described in dogs. In this study, we investigated an inbred family of Wirehaired Pointing Griffon dogs in which three offspring were affected by juvenile cataract. The pedigree suggested monogeni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89e6ae3ec6d9e2f2e31129c6264d2612
Autor:
Odette Ludwig-Peisker, Emily Ansel, Daniela Schweizer, Vidhya Jagannathan, Robert Loechel, Tosso Leeb
Publikováno v:
Genes; Volume 13; Issue 12; Pages: 2354
Ludwig-Peisker, Odette; Ansel, Emily; Schweizer, Daniela; Jagannathan, Vidhya; Loechel, Robert; Leeb, Tosso (2022). PCYT1A Missense Variant in Vizslas with Disproportionate Dwarfism. Genes, 13(12), p. 2354. MDPI, Molecular Diversity Preservation International 10.3390/genes13122354
Ludwig-Peisker, Odette; Ansel, Emily; Schweizer, Daniela; Jagannathan, Vidhya; Loechel, Robert; Leeb, Tosso (2022). PCYT1A Missense Variant in Vizslas with Disproportionate Dwarfism. Genes, 13(12), p. 2354. MDPI, Molecular Diversity Preservation International 10.3390/genes13122354
Disproportionate dwarfism phenotypes represent a heterogeneous subset of skeletal dysplasias and have been described in many species including humans and dogs. In this study, we investigated Vizsla dogs that were affected by disproportionate dwarfism
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d0e37c5cf509d272884744eae227c47
Autor:
Danika L. Bannasch, James R. Mickelson, Gregory S. Barsh, Tosso Leeb, Hannes Lohi, Meharji Arumilli, Petra Roosje, Marjo K. Hytönen, Cord Drögemüller, Christopher B. Kaelin, Katie M. Minor, Robert Loechel, Jan Henkel, Petra Hug, Vidhya Jagannathan, Anna Letko
Distinctive color patterns in dogs are an integral component of canine diversity. Color pattern differences are thought to have arisen from mutation and artificial selection during and after domestication from wolves 1,2 but important gaps remain in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6f1c270ebd3e2ce7d0a4e31e4b7b29f2
https://doi.org/10.1101/2020.12.21.423812
https://doi.org/10.1101/2020.12.21.423812
Autor:
Lisa G. Shaffer, Anja Geretschlaeger, Robert Loechel, Julia H. Segert, June E Swinburne, Ramon Royal, Blake C. Ballif, Christina J Ramirez, Kyle Sundin
Publikováno v:
Human Genetics
This publication represents a proposed approach to quality standards and guidelines for canine clinical genetic testing laboratories. Currently, there are no guidelines for laboratories performing clinical testing on dogs. Thus, there is no consensus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcebde7d574985bf05f15c31d2d3c1f6
https://doi.org/10.1007/s00439-018-1954-4
https://doi.org/10.1007/s00439-018-1954-4
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