GONÇALVES PONTES JACINTO, JOANA
GONÇALVES PONTES JACINTO, JOANA
DIPARTIMENTO DI SCIENZE MEDICHE VETERINARIE
Joana G. P. Jacinto; Jacinto J. G. P.; Joana GP. Jacinto; Jacinto JGP; G. P. Jacinto J.
A 6.7 kb deletion in the COL2A1 gene in a Holstein calf with achondrogenesis type II and perosomus elumbis
2021 Jacinto JGP, Häfliger IM, Gentile A, Drögemüller C, Bolcato M
A Case of Bovine Eosinophilic Myositis (BEM) Associated with Co-Infection by Sarcocystis hominis and Toxoplasma gondii
2023 Dini, Filippo Maria; Caffara, Monica; Jacinto, Joana G. P.; Benazzi, Cinzia; Gentile, Arcangelo; Galuppi, Roberta
A De Novo Mutation in COL1A1 in a Holstein Calf with Osteogenesis Imperfecta Type II
2021 Jacinto, Joana G. P.; Häfliger, Irene M.; McEvoy, Fintan J.; Drögemüller, Cord; Agerholm, Jørgen S.
A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex
2020 Jacinto J.G.P.; Hafliger I.M.; Veiga I.M.B.; Drogemuller C.; Agerholm J.S.
A de novo start-lost variant in ANKRD28 in a Holstein calf with dwarfism
2022 Jacinto, Joana G P; Häfliger, Irene M; Baes, Christine F; de Oliveira, Hinayah R; Drögemüller, Cord
A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle
2021 Jacinto J.G.P.; Hafliger I.M.; Veiga I.M.B.; Letko A.; Gentile A.; Drogemuller C.
A germline de novo variant in NUMB associated with a double-outlet right ventricle in Chianina cattle
2022 Jacinto, Joana G P; Häfliger, Irene M; Caivano, Domenico; Drögemüller, Cord
A heterozygous missense variant in MAP2K2 in a stillborn romagnola calf with skeletal-cardio-enteric dysplasia
2021 Jacinto J.G.P.; Hafliger I.M.; Gentile A.; Drogemuller C.
A Heterozygous Missense Variant in the COL5A2 in Holstein Cattle Resembling the Classical Ehlers–Danlos Syndrome
2020 Jacinto, Joana G. P.; Häfliger, Irene M.; Veiga, Inês M. B.; Letko, Anna; Benazzi, Cinzia; Bolcato, Marilena; Drögemüller, Cord
A homozygous missense variant in laminin subunit beta 1 as candidate causal mutation of hemifacial microsomia in Romagnola cattle
2022 Jacinto, Joana G. P.; Häfliger, Irene M.; Bernardini, Marco; Mandara, Maria Teresa; Bianchi, Ezio; Bolcato, Marilena; Romagnoli, Noemi; Gentile, Arcangelo; Drögemüller, Cord
A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
2021 Joana G. P. Jacinto; Alysta D. Markey; Inês M. B. Veiga; Julia M. Paris; Monika Welle; Jonathan E. Beever; Cord Drögemüller
A large deletion encompassing exon 2 of the ectodysplasin A (EDA) gene in a British blue crossbred calf with hypohidrotic ectodermal dysplasia
2022 Capuzzello, Giovanni; Jacinto, Joana Gonçalves Pontes; Häfliger, Irene Monika; Chapman, Gail E; Martin, Sara Soto; Viora, Lorenzo; Jonsson, Nicholas N; Drögemüller, Cord
A large deletion in the COL2A1 gene expands the spectrum of pathogenic variants causing bulldog calf syndrome in cattle
2020 Joana Gonçalves Pontes Jacinto, Irene Monika Häfliger, Anna Letko, Cord Drögemüller, Jørgen Steen Agerholm
A missense variant in DGKG as a recessive functional variant for hepatic fibrinogen storage disease in Wagyu cattle
2023 Jacinto, Joana G P; Wohlsein, Peter; Häfliger, Irene M; Karl, Michael; Pohlers, Michael; Plobner, Lutz; Grünberg, Walter; Drögemüller, Cord
A Missense Variant in PLP2 in Holstein Cattle with X-Linked Congenital Mast Cell Tumor
2022 Jacinto, Joana G. P.; Muscatello, Luisa Vera; Häfliger, Irene M.; Benazzi, Cinzia; Bolcato, Marilena; Gentile, Arcangelo; Drögemüller, Cord
A Nonsense Variant in Hephaestin Like 1 (HEPHL1) Is Responsible for Congenital Hypotrichosis in Belted Galloway Cattle
2021 Kuca, Thibaud; Marron, Brandy M.; Jacinto, Joana G. P.; Paris, Julia M.; Gerspach, Christian; Beever, Jonathan E.; Drögemüller, Cord
A PECULIAR CASE OF PROTOZOAN BOVINE EOSINOPHILIC MYOSITIS
2022 Dini F.M., Caffara M., Benazzi C., Jacinto J., Gentile A., Galuppi R.
A recessively inherited form of ichthyosis congenita in Chianina cattle is associated with a frameshift insertion in the FA2H gene
2021 Joana G. P. Jacinto, Irene M. Häfliger, Inês M. B. Veiga, Anna Letko, Cord Drögemüller, Arcangelo Gentile
Autosomal Cholesterol Deficiency in a Holstein Calf
2020 Joana Gonçalves Pontes Jacinto, Marilena Bolcato, Cord Drögemüller, Arcangelo Gentile, Gianfranco Militerno
AUTOSOMAL RECESSIVE CHOLESTEROL DEFICIENCY IN A HOLSTEIN CALF
2018 M. Bolcato, J. Gonçalves Pontes Jacinto, G. Militerno, J. Cannas da Silva, A. Gentile