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Dini, Filippo M; Jacinto, Joana G P; Cavallini, Damiano; Beltrame, Andrea; Del Re, Flavia S; Abram, Laura; Gentile, Arcangelo; Galuppi, Roberta (2024). Observational longitudinal study on Toxoplasma gondii infection in fattening beef cattle: serology and associated haematological findings. Parasitology research, 123(3) Springer-Verlag 10.1007/s00436-024-08189-y
Jacinto, Joana G P; Bolcato, Marilena; Häfliger, Irene M; Oevermann, Anna; Gentile, Arcangelo; Drögemüller, Cord (2023). DYRK1B haploinsufficiency in a Holstein cattle with epilepsy. Animal genetics, 54(5), pp. 623-627. Wiley 10.1111/age.13348
Akyürek, Eylem Emek; Busato, Francesca; Murgiano, Leonardo; Bianchini, Elisa; Carotti, Marcello; Sandonà, Dorianna; Drögemüller, Cord; Gentile, Arcangelo; Sacchetto, Roberta (2022). Differential Analysis of Gly211Val and Gly286Val Mutations Affecting Sarco(endo)plasmic Reticulum Ca2+-ATPase (SERCA1) in Congenital Pseudomyotonia Romagnola Cattle. International journal of molecular sciences, 23(20) MDPI 10.3390/ijms232012364
Jacinto, Joana G P; Muscatello, Luisa Vera; Häfliger, Irene M; Benazzi, Cinzia; Bolcato, Marilena; Gentile, Arcangelo; Drögemüller, Cord (2022). A Missense Variant in PLP2 in Holstein Cattle with X-Linked Congenital Mast Cell Tumor. Animals, 12(18) MDPI 10.3390/ani12182329
Jacinto, Joana G P; Häfliger, Irene M.; Bernardini, Marco; Mandara, Maria Teresa; Bianchi, Ezio; Bolcato, Marilena; Romagnoli, Noemi; Gentile, Arcangelo; Drögemüller, Cord (2022). A homozygous missense variant in laminin subunit beta 1 as candidate causal mutation of hemifacial microsomia in Romagnola cattle. Journal of veterinary internal medicine, 36(1), pp. 292-299. Wiley-Blackwell 10.1111/jvim.16316
Jacinto, Joana G P; Häfliger, Irene M.; Akyürek, Eylem Emek; Sacchetto, Roberta; Benazzi, Cinzia; Gentile, Arcangelo; Drögemüller, Cord (2021). KCNG1-Related Syndromic Form of Congenital Neuromuscular Channelopathy in a Crossbred Calf. Genes, 12(11), p. 1792. MDPI, Molecular Diversity Preservation International 10.3390/genes12111792
Jacinto, Joana G P; Häfliger, Irene M.; Veiga, Inês M. B.; Letko, Anna; Gentile, Arcangelo; Drögemüller, Cord (2021). A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle. Molecular genetics and genomics : MGG, 296(6), pp. 1313-1322. Springer 10.1007/s00438-021-01824-8
Jacinto, Joana G P; Häfliger, Irene M.; Gentile, Arcangelo; Drögemüller, Cord (2021). A Heterozygous Missense Variant in MAP2K2 in a Stillborn Romagnola Calf with Skeletal-Cardio-Enteric Dysplasia. Animals, 11(7), p. 1931. MDPI 10.3390/ani11071931
Jacinto, Joana G P; Häfliger, Irene M.; Gentile, Arcangelo; Drögemüller, Cord; Bolcato, Marilena (2021). A 6.7 kb deletion in the COL2A1 gene in a Holstein calf with achondrogenesis type II and perosomus elumbis. Animal genetics, 52(2), pp. 244-245. Wiley 10.1111/age.13033
Gallina, Laura; Koch, Michel C.; Gentile, Arcangelo; Treglia, Ida; Bombardi, Cristiano; Mandrioli, Luciana; Bolcato, Marilena; Scagliarini, Alessandra; Drögemüller, Cord; Seuberlich, Torsten; Ciulli, Sara (2021). Bovine viral diarrhoea virus 1b infection associated with congenital tremor and hypomyelination in Holstein calves. Veterinary microbiology, 256, p. 109047. Elsevier 10.1016/j.vetmic.2021.109047
Murgiano, Leonardo; Militerno, Gianfranco; Sbarra, Fiorella; Drögemüller, Cord; Jacinto, Joana G P; Gentile, Arcangelo; Bolcato, Marilena (2020). KDM2B‐associated paunch calf syndrome in Marchigiana cattle. Journal of veterinary internal medicine, 34(4), pp. 1657-1661. Wiley 10.1111/jvim.15789
Pontes Jacinto, Joana Goncalves; Bolcato, Marilena; Drögemüller, Cord; Gentile, Arcangelo; Militerno, Gianfranco (2019). Autosomal Cholesterol Deficiency in a Holstein Calf. Pakistan veterinary journal University of Agriculture, Faisalabad 10.29261/pakvetj/2019.120
Murgiano, Leonardo; Jagannathan, Vidhya; Piffer, Christian; Diez-Prieto, Inmaculada; Bolcato, Marilena; Gentile, Arcangelo; Drögemüller, Cord (2016). A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle. BMC veterinary research, 12(276), p. 276. BioMed Central 10.1186/s12917-016-0904-4
Murgiano, Leonardo; Shirokova, Vera; Welle, Monika Maria; Jagannathan, Vidhya; Plattet, Philippe; Oevermann, Anna; Pienkowska-Schelling, Aldona; Gallo, Daniele; Gentile, Arcangelo; Mikkola, Marja L; Drögemüller, Cord (2016). Correction: Hairless Streaks in Cattle Implicate TSR2 in Early Hair Follicle Formation. PLoS genetics, 12(5), e1005688. Public Library of Science 10.1371/journal.pgen.1005688
Murgiano, Leonardo; Shirokova, Vera; Welle, Monika Maria; Jagannathan, Vidhya; Plattet, Philippe; Oevermann, Anna; Pienkowska-Schelling, Aldona; Gallo, Daniele; Gentile, Arcangelo; Mikkola, Marja; Drögemüller, Cord (2015). Hairless Streaks in Cattle Implicate TSR2 in Early Hair Follicle Formation. PLoS genetics, 11(7), e1005427. Public Library of Science 10.1371/journal.pgen.1005427
Murgiano, Leonardo; Jagannathan, Vidhya; Benazzi, Cinzia; Bolcato, Marilena; Brunetti, Barbara; Muscatello, Luisa Vera; Dittmer, Keren; Piffer, Christian; Gentile, Arcangelo; Drögemüller, Cord (2014). Deletion in the EVC2 gene causes chondrodysplastic dwarfism in Tyrolean Grey cattle. PLoS ONE, 9(4), e94861. Public Library of Science 10.1371/journal.pone.0094861
Murgiano, Leonardo; Jagannathan, Vidhya; Calderoni, Valerio; Joechler, Monika; Gentile, Arcangelo; Drögemüller, Cord (2014). Looking the cow in the eye: deletion in the NID1 gene is associated with recessive inherited cataract in Romagnola cattle. PLoS ONE, 9(10), e110628. Public Library of Science 10.1371/journal.pone.0110628
Murgiano, Leonardo; Sacchetto, Roberta; Testoni, Stefania; Dorotea, Tiziano; Mascarello, Francesco; Liguori, Rocco; Gentile, Arcangelo; Drögemüller, Cord (2012). Pseudomyotonia in Romagnola cattle caused by novel ATP2A1 mutations. BMC veterinary research, 8, p. 186. BioMed Central 10.1186/1746-6148-8-186
Testoni, Stefania; Bartolone, Elena; Rossi, Marco; Patrignani, Andrea; Bruggmann, Rémy; Lichtner, Peter; Tetens, Jens; Gentile, Arcangelo; Drögemüller, Cord (2012). KDM2B is implicated in bovine lethal multi-organic developmental dysplasia. PLoS ONE, 7(9), e45634. Lawrence, Kans.: Public Library of Science 10.1371/journal.pone.0045634
Drögemüller, Cord; Drögemüller, Michaela; Leeb, Tosso; Mascarello, Francesco; Testoni, Stefania; Rossi, Marco; Gentile, Arcangelo; Damiani, Ernesto; Sacchetto, Roberta (2008). Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease. Genomics, 92(6), pp. 474-477. Elsevier 10.1016/j.ygeno.2008.07.014
Drögemüller, Cord; Leeb, Tosso; Harlizius, Barbara; Tammen, Imke; Distl, Ottmar; Höltershinken, Martin; Gentile, Arcangelo; Duchesne, Amandine; Eggen, André (2007). Congenital syndactyly in cattle: four novel mutations in the low density lipoprotein receptor-related protein 4 gene (LRP4). BMC genetics, 8, p. 5. London: BioMed Central 10.1186/1471-2156-8-5
