Zobrazeno 1 - 10
of 126
pro vyhledávání: '"Julia M. Paris"'
Autor:
Irene M. Häfliger, Emma Marchionatti, Michele Stengård, Sonja Wolf-Hofstetter, Julia M. Paris, Joana G. P. Jacinto, Christine Watté, Katrin Voelter, Laurence M. Occelli, András M. Komáromy, Anna Oevermann, Christine Goepfert, Angelica Borgo, Raphaël Roduit, Mirjam Spengeler, Franz R. Seefried, Cord Drögemüller
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 22, p 12440 (2021)
Sporadic occurrence of inherited eye disorders has been reported in cattle but so far pathogenic variants were found only for rare forms of cataract but not for retinopathies. The aim of this study was to characterize the phenotype and the genetic ae
Externí odkaz:
https://doaj.org/article/4cbbfd0ed9054484b355f5c1b84aa098
Autor:
Joana G. P. Jacinto, Alysta D. Markey, Inês M. B. Veiga, Julia M. Paris, Monika Welle, Jonathan E. Beever, Cord Drögemüller
Publikováno v:
Genes, Vol 12, Iss 7, p 1038 (2021)
Genodermatoses, such as heritable skin disorders, mostly represent Mendelian conditions. Congenital hypotrichosis (HY) characterize a condition of being born with less hair than normal. The purpose of this study was to characterize the clinicopatholo
Externí odkaz:
https://doaj.org/article/9d91093d82ab442bbaf4a5a8c4dc8f45
Autor:
Thibaud Kuca, Brandy M. Marron, Joana G. P. Jacinto, Julia M. Paris, Christian Gerspach, Jonathan E. Beever, Cord Drögemüller
Publikováno v:
Genes, Vol 12, Iss 5, p 643 (2021)
Genodermatosis such as hair disorders mostly follow a monogenic mode of inheritance. Congenital hypotrichosis (HY) belong to this group of disorders and is characterized by abnormally reduced hair since birth. The purpose of this study was to charact
Externí odkaz:
https://doaj.org/article/66390196f0cf470f9ee68c280c83f645
Autor:
Anna Letko, Reinie Dijkman, Ben Strugnell, Irene M. Häfliger, Julia M. Paris, Katrina Henderson, Tim Geraghty, Hannah Orr, Sandra Scholes, Cord Drögemüller
Publikováno v:
Genes, Vol 11, Iss 10, p 1147 (2020)
Severe oxalate nephropathy has been previously reported in sheep and is mostly associated with excessive oxalate in the diet. However, a rare native Dutch breed (Zwartbles) seems to be predisposed to an inherited juvenile form of primary hyperoxaluri
Externí odkaz:
https://doaj.org/article/7c41a797b13e431e83a9a008413720a1
Autor:
Julia M. Paris, Cord Drögemüller, Nathalie Hirter, Irene M. Häfliger, S. Wolf Hofstetter, F Seefried
Publikováno v:
Animal Genetics. 51:449-452
White-spotting coat colour phenotypes in cattle are either fixed characteristics of specific cattle breeds or occur sporadically owing to germline genetic variation of solid-coloured parents. A Brown Swiss cow showing a piebald pattern resembling col
Autor:
Irene M. Häfliger, Emma Marchionatti, Sonja Wolf-Hofstetter, Julia M. Paris, Joana G. P. Jacinto, Christine Watté, Michele Stengard, Katrin Voelter, Laurence M. Occelli, András M Komáromy, Anna Oevermann, Christine Göpfert, Angelica Borgo, Raphaël Roduit, Franz Seefried, Cord Drögemüller
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______4094::b9fe4855192f6da7022bb099eb3057f4
http://hdl.handle.net/11585/833710
http://hdl.handle.net/11585/833710
Autor:
Nathalie Hirter, Julia M. Paris, Carlos Abril, Charis Bützberger, Anna Letko, Cord Drögemüller
Publikováno v:
Letko, Anna; Bützberger, Charis; Hirter, Nathalie; Paris, Julia M.; Abril, Carlos; Drögemüller, Cord (2021). Genetic evaluation of small ruminant lentivirus susceptibility in Valais blacknose sheep. Animal genetics, 52(5), pp. 781-782. Wiley 10.1111/age.13108
Animal Genetics
Animal Genetics
none
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a82b0e409c9c52eda880c04ab248ba76
https://boris.unibe.ch/157315/1/age.13108.pdf
https://boris.unibe.ch/157315/1/age.13108.pdf
Autor:
Daniele Bigi, Fiona Menzi, Slim Ben Jemaa, Marie-Christine Deloche, Aurélien Capitan, Johannes A. Lenstra, Marina Naval-Sanchez, Ivica Medugorac, Nathalie Hirter, Gwenola Tosser-Klopp, Diane Esquerre, Coralie M. Reich, Julia M. Paris, Rose-Marie Arbogast, Amandine Blin, Abdelhak Boukadiri, Aurélie Hintermann, Julie Rivière, Denis Duboule, Raphaël Cornette, Cécile Donnadieu, Marie-Dominique Wandhammer, Gjoko Bunevski, Louisa Gidney, Michael Stache, Isabelle Palhiere, Renate Schafberg, James Kijas, Claude Guintard, Joséphine Lesur, Jozsef Zakany, Rachel Rupp, Noelle E. Cockett, John Hedges, Ashleigh Haruda, Philippe Bardou, Olivier Putelat, Tracy Hadfield, Alain Pinton, Ockert Greyvenstein, Aurélie Allais-Bonnet, Este Van Marle-Koster, Eric Pailhoux, Coralie Danchin-Burge, David G. Riley, Cécile Grohs, Benjamin J. Hayes, Cord Drögemüller
Publikováno v:
Molecular Biology and Evolution
Molecular Biology and Evolution, Oxford University Press (OUP), 2021, ⟨10.1093/molbev/msab021⟩
Allais-Bonnet, Aurélie; Hintermann, Aurélie; Deloche, Marie-Christine; Cornette, Raphaël; Bardou, Philippe; Naval-Sanchez, Marina; Pinton, Alain; Haruda, Ashleigh; Grohs, Cécile; Zakany, Jozsef; Bigi, Daniele; Medugorac, Ivica; Putelat, Olivier; Greyvenstein, Ockert; Hadfield, Tracy; Jemaa, Slim Ben; Bunevski, Gjoko; Menzi, Fiona; Hirter, Nathalie; Paris, Julia M; ... (2021). Analysis of Polycerate Mutants Reveals the Evolutionary Co-option of HOXD1 for Horn Patterning in Bovidae. Molecular Biology and Evolution, 38(6), pp. 2260-2272. Oxford University Press 10.1093/molbev/msab021
Molecular Biology and Evolution, 2021, ⟨10.1093/molbev/msab021⟩
Molecular Biology and Evolution, 38(6), 2260. Oxford University Press
Molecular Biology and Evolution, Oxford University Press (OUP), 2021, ⟨10.1093/molbev/msab021⟩
Allais-Bonnet, Aurélie; Hintermann, Aurélie; Deloche, Marie-Christine; Cornette, Raphaël; Bardou, Philippe; Naval-Sanchez, Marina; Pinton, Alain; Haruda, Ashleigh; Grohs, Cécile; Zakany, Jozsef; Bigi, Daniele; Medugorac, Ivica; Putelat, Olivier; Greyvenstein, Ockert; Hadfield, Tracy; Jemaa, Slim Ben; Bunevski, Gjoko; Menzi, Fiona; Hirter, Nathalie; Paris, Julia M; ... (2021). Analysis of Polycerate Mutants Reveals the Evolutionary Co-option of HOXD1 for Horn Patterning in Bovidae. Molecular Biology and Evolution, 38(6), pp. 2260-2272. Oxford University Press 10.1093/molbev/msab021
Molecular Biology and Evolution, 2021, ⟨10.1093/molbev/msab021⟩
Molecular Biology and Evolution, 38(6), 2260. Oxford University Press
In the course of evolution, pecorans (i.e., higher ruminants) developed a remarkable diversity of osseous cranial appendages, collectively referred to as “headgear,” which likely share the same origin and genetic basis. However, the nature and fu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e81f9ba5bd3ae8e59d2ce96dcb31adc
https://hal.archives-ouvertes.fr/hal-03164832/file/msab021.pdf
https://hal.archives-ouvertes.fr/hal-03164832/file/msab021.pdf
Autor:
Louisa Gidney, Nathalie Hirter, Aurélie Allais-Bonnet, Tracy Hadfield, Coralie M. Reich, Olivier Putelat, Ashleigh Haruda, Marina Naval-Sanchez, Rachel Rupp, Ben J. Hayes, Noelle E. Cockett, Renate Schafberg, van Marle-Koster E, Cord Drögemüller, Philippe Bardou, Marie-Dominique Wandhammer, Cécile Grohs, Coralie Danchin-Burge, Denis Duboule, Fiona Menzi, Amandine Blin, Raphaël Cornette, Isabelle Palhiere, Abdelhak Boukadiri, Marie-Christine Deloche, Johannes A. Lenstra, Rose-Marie Arbogast, Daniele Bigi, Ben Jemaa S, Eric Pailhoux, Stache M, Julia M. Paris, J. Zakany, Aurélie Hintermann, Julie Rivière, Cécile Donnadieu, Aurélien Capitan, Diane Esquerre, Joséphine Lesur, Ivica Medugorac, Alain Pinton, Ockert Greyvenstein, Gjoko Bunevski, Hedges J, David G. Riley, James Kijas, Gwenola Tosser-Klopp, Claude Guintard
In the course of evolution, pecorans (i.e. higher ruminants) developed a remarkable diversity of osseous cranial appendages, collectively referred to as ‘headgear’, which likely share the same origin and genetic basis. However, the nature and fun
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a9b800773dac346edad82bbc47cb4607
https://doi.org/10.1101/2020.11.04.363069
https://doi.org/10.1101/2020.11.04.363069
Compound heterozygous PLA2G6 loss-of-function variants in Swaledale sheep with neuroaxonal dystrophy
Autor:
Sandra Scholes, Anna Letko, Ben Strugnell, Irene M. Häfliger, Julia M. Paris, Katie Waine, Cord Drögemüller
Publikováno v:
Molecular Genetics and Genomics
Letko, Anna; Strugnell, Ben; Häfliger, Irene M.; Paris, Julia M.; Waine, Katie; Drögemüller, Cord; Scholes, Sandra (2021). Compound heterozygous PLA2G6 loss-of-function variants in Swaledale sheep with neuroaxonal dystrophy. Molecular genetics and genomics : MGG, 296(1), pp. 235-242. Springer 10.1007/s00438-020-01742-1
Letko, Anna; Strugnell, Ben; Häfliger, Irene M.; Paris, Julia M.; Waine, Katie; Drögemüller, Cord; Scholes, Sandra (2021). Compound heterozygous PLA2G6 loss-of-function variants in Swaledale sheep with neuroaxonal dystrophy. Molecular genetics and genomics : MGG, 296(1), pp. 235-242. Springer 10.1007/s00438-020-01742-1
Sporadic occurrences of neurodegenerative disorders including neuroaxonal dystrophy (NAD) have been previously reported in sheep. However, so far no causative genetic variant has been found for ovine NAD. The aim of this study was to characterize the