Häfliger, Irene Monika

Up a level
Export as [feed] RSS
Group by: Date | Item Type | Refereed | No Grouping
Jump to: 2020 | 2019

2020

Paris, J. M.; Letko, A.; Häfliger, I. M.; Ammann, P.; Drögemüller, C. (2020). Ear type in sheep is associated with the MSRB3 locus. Animal genetics, 51(6), pp. 968-972. Wiley 10.1111/age.12994

Häfliger, Irene Monika; Agerholm, Jørgen Steen; Drögemüller, Cord (2020). Constitutional trisomy 20 in an aborted Holstein fetus with pulmonary hypoplasia and anasarca syndrome. Animal genetics, 51(6), pp. 988-989. Wiley 10.1111/age.13008

Letko, Anna; Strugnell, Ben; Häfliger, Irene M.; Paris, Julia M.; Waine, Katie; Drögemüller, Cord; Scholes, Sandra (2020). Compound heterozygous PLA2G6 loss-of-function variants in Swaledale sheep with neuroaxonal dystrophy. (In Press). Molecular genetics and genomics : MGG Springer 10.1007/s00438-020-01742-1

Jacinto, Joana G. P.; Häfliger, Irene M.; Veiga, Inês M. B.; Drögemüller, Cord; Agerholm, Jørgen S. (2020). A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex. (In Press). Journal of veterinary internal medicine Wiley-Blackwell 10.1111/jvim.15943

Jacinto, Joana G. P.; Häfliger, Irene M.; Veiga, Inês M. B.; Letko, Anna; Benazzi, Cinzia; Bolcato, Marilena; Drögemüller, Cord (2020). A Heterozygous Missense Variant in the COL5A2 in Holstein Cattle Resembling the Classical Ehlers–Danlos Syndrome. Animals, 10(11), p. 2002. MDPI 10.3390/ani10112002

Letko, Anna; Dijkman, Reinie; Strugnell, Ben; Häfliger, Irene M.; Paris, Julia M.; Henderson, Katrina; Geraghty, Tim; Orr, Hannah; Scholes, Sandra; Drögemüller, Cord (2020). Deleterious AGXT Missense Variant Associated with Type 1 Primary Hyperoxaluria (PH1) in Zwartbles Sheep. Genes, 11(10) MDPI, Molecular Diversity Preservation International 10.3390/genes11101147

Jacinto, Joana Gonçalves Pontes; Häfliger, Irene Monika; Letko, Anna; Drögemüller, Cord; Agerholm, Jørgen Steen (2020). A large deletion in the COL2A1 gene expands the spectrum of pathogenic variants causing bulldog calf syndrome in cattle. Acta Veterinaria Scandinavica, 62(1), p. 49. BioMed Central Ltd. 10.1186/s13028-020-00548-w

Joller, Sara; Häfliger, Irene M.; Drögemüller, Cord; Richard, Olivia K.; Grahofer, Alexander (2020). Thrombocytopenic purpura on an organic farm with pen mating: a case report on the re-emergence of an old disease. Porcine health management, 6(1) BioMed Central 10.1186/s40813-020-00157-z

Brunner, Magdalena A. T.; Berenguer Veiga, Inês Margarida; Niggeler, Allegra; Häfliger, Irene M.; Stettler, Manuela; Meylan, Mireille; Welle, Monika; Drögemüller, Cord (2020). Is a de novo nonsense variant in the ASPDH gene the cause of ulcerative skin lesions in a Holstein calf? Veterinary dermatology, 31(3), 244-e54. Wiley 10.1111/vde.12827

Simon, R; Lischer, H. E. L.; Pieńkowska-Schelling, A.; Keller, I.; Häfliger, I. M.; Letko, A.; Schelling, C; Lühken, G; Drögemüller, C. (2020). New genomic features of the polled intersex syndrome variant in goats unraveled by long-read whole-genome sequencing. Animal genetics, 51(3), pp. 439-448. Wiley 10.1111/age.12918

Häfliger, I. M.; Hirter, N.; Paris, J. M.; Wolf Hofstetter, S.; Seefried, F R; Drögemüller, C. (2020). A de novo germline mutation of KIT in a white-spotted Brown Swiss cow. Animal genetics, 51(3), pp. 449-452. Wiley 10.1111/age.12920

Häfliger, I. M.; Wiedemar, N.; Švara, T; Starič, J; Cociancich, V; Šest, K; Gombač, M; Paller, T; Agerholm, J S; Drögemüller, C. (2020). Identification of small and large genomic candidate variants in bovine pulmonary hypoplasia and anasarca syndrome. Animal genetics, 51(3), pp. 382-390. Wiley 10.1111/age.12923

Häfliger, I. M.; Letko, A.; Murgiano, L.; Drögemüller, C. (2020). De novo stop-lost germline mutation in FGFR3 causes severe chondrodysplasia in the progeny of a Holstein bull. Animal genetics, 51(3), pp. 466-469. Wiley 10.1111/age.12934

Häfliger, Irene M.; Sickinger, Marlene; Holsteg, Mark; Raeder, Leif M.; Henrich, Manfred; Marquardt, Siegfried; Drögemüller, Cord; Lühken, Gesine (2020). An IL17RA frameshift variant in a Holstein cattle family with psoriasis-like skin alterations and immunodeficiency. BMC genetics, 21(1) BioMed Central 10.1186/s12863-020-00860-4

Hirter, Nathalie; Letko, Anna; Häfliger, Irene Monika; Becker, Doreen; Greber, Deborah; Drögemüller, Cord (2020). A genome-wide significant association on chromosome 15 for congenital entropion in Swiss White Alpine sheep. Animal genetics, 51(2), pp. 278-283. Wiley 10.1111/age.12903

Paris, Julia Maria; Letko, Anna; Häfliger, Irene Monika; Švara, Tanja; Gombač, Mitja; Klinc, Primož; Škibin, Andrej; Pogorevc, Estera; Drögemüller, Cord (2020). A de novo variant in OTX2 in a lamb with otocephaly. Acta Veterinaria Scandinavica, 62(1) BioMed Central Ltd. 10.1186/s13028-020-0503-z

Mock, Thomas; Mee, John F.; Dettwiler, Martina; Rodriguez-Campos, Sabrina; Hüsler, Jürg; Michel, Brigitte; Häfliger, Irene Monika; Drögemüller, Cord; Bodmer, Michèle; Hirsbrunner, Gabriela (2020). Evaluation of an investigative model in dairy herds with high calf perinatal mortality rates in Switzerland. Theriogenology, 148, pp. 48-59. Elsevier 10.1016/j.theriogenology.2020.02.039

Häfliger, Irene Monika; Seefried, Franz; Drögemüller, Cord (2020). Trisomy 29 in a stillborn Swiss Original Braunvieh calf. Animal genetics, 51(3), pp. 483-484. Wiley 10.1111/age.12929

Butty, Adrien M.; Chud, Tatiane C. S.; Miglior, Filippo; Schenkel, Flavio S.; Kommadath, Arun; Krivushin, Kirill; Grant, Jason R.; Häfliger, Irene M.; Drögemüller, Cord; Cánovas, Angela; Stothard, Paul; Baes, Christine F. (2020). High confidence copy number variants identified in Holstein dairy cattle from whole genome sequence and genotype array data. Scientific reports, 10(1), p. 8044. Springer Nature 10.1038/s41598-020-64680-3

2019

Paris, Julia Maria; Letko, Anna; Häfliger, Irene Monika; Ammann, P; Flury, C; Drögemüller, Cord (2019). Identification of two TYRP1 loss-of-function alleles in Valais Red sheep. Animal genetics, 50(6), pp. 778-782. Wiley 10.1111/age.12863

Woolley, S A; Eager, K L M; Häfliger, Irene Monika; Bauer, Anina; Drögemüller, Cord; Leeb, Tosso; O'Rourke, B A; Tammen, I (2019). An ABCA12 missense variant in a Shorthorn calf with ichthyosis fetalis. Animal genetics, 50(6), pp. 749-752. Wiley 10.1111/age.12856

Häfliger, Irene Monika; Hofstetter, Sonja; Mock, Thomas; Stettler, Manuela Hanna; Meylan, Mireille; Mehinagic, Kemal; Stokar von Neuforn, Nadine; Drögemüller, Cord (2019). APOB-associated cholesterol deficiency in Holstein cattle is not a simple recessive disease. Animal genetics, 50(4), pp. 372-375. Wiley 10.1111/age.12801

Küttel, Luzia Marlis; Letko, Anna; Häfliger, Irene Monika; Signer-Hasler, H; Joller, Sara; Hirsbrunner, Gabriela; Mészáros, G; Sölkner, J; Flury, C; Leeb, Tosso; Drögemüller, C. (2019). A complex structural variant at the KIT locus in cattle with the Pinzgauer spotting pattern. Animal genetics, 50(5), pp. 423-429. Wiley 10.1111/age.12821

Häfliger, Irene Monika; Behn, Holger; Freick, Markus; Jagannathan, Vidhya; Drögemüller, Cord (2019). A COL2A1 de novo variant in a Holstein bulldog calf. Animal genetics, 50(1), pp. 113-114. Blackwell 10.1111/age.12735

Hofstetter, Sonja; Seefried, F; Häfliger, Irene Monika; Jagannathan, Vidya; Leeb, Tosso; Drögemüller, Cord (2019). A non-coding regulatory variant in the 5'-region of the MITF gene is associated with white-spotted coat in Brown Swiss cattle. Animal genetics, 50(1), pp. 27-32. Blackwell 10.1111/age.12751

Grahofer, Alexander; Letko, Anna; Häfliger, Irene Monika; Jagannathan, Vidya; Ducos, Alain; Richard, Olivia; Peter, Vanessa Georgina; Nathues, Heiko; Drögemüller, Cord (2019). Chromosomal imbalance in pigs showing a syndromic form of cleft palate. BMC Genomics, 20(1), p. 349. BioMed Central 10.1186/s12864-019-5711-4

Provide Feedback