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Joana Gonçalves Pontes Jacinto

Dottoranda

Dipartimento di Scienze Mediche Veterinarie

Borsista di Ricerca

Dipartimento di Scienze Mediche Veterinarie

Settore scientifico disciplinare: VET/08 CLINICA MEDICA VETERINARIA

Pubblicazioni

Jacinto, Joana G P; Häfliger, Irene M; Baes, Christine F; de Oliveira, Hinayah R; Drögemüller, Cord, A de novo start-lost variant in ANKRD28 in a Holstein calf with dwarfism, «ANIMAL GENETICS», 2022, 53, pp. 470 - 471 [articolo]

Jacinto, Joana G. P.; Häfliger, Irene M.; Bernardini, Marco; Mandara, Maria Teresa; Bianchi, Ezio; Bolcato, Marilena; Romagnoli, Noemi; Gentile, Arcangelo; Drögemüller, Cord, A homozygous missense variant in laminin subunit beta 1 as candidate causal mutation of hemifacial microsomia in Romagnola cattle, «JOURNAL OF VETERINARY INTERNAL MEDICINE», 2022, 36, pp. 292 - 299 [articolo]Open Access

Naod Thomas Masebo, Marilena Bolcato, Joana Jacinto, Arcangelo Gentile, Gianfranco Militerno, GENITAL TRACT INVOLVEMENTS IN A BULL AFFECTED BY BOVINE BESNOITIOSIS, «LARGE ANIMALS REVIEW», 2022, 28, pp. 161 - 164 [articolo]

Jacinto, Joana G P; Häfliger, Irene M; Christen, Matthias; Paris, Julia M; Seefried, Franz R; Drögemüller, Cord, Is a heterozygous missense variant in SGSH the cause of a syndromic form of congenital amastia in an Original Braunvieh calf?, «ANIMAL GENETICS», 2022, 0, pp. 1 - 2 [articolo]

Jacinto, J.G.P.; Sbarra, F.; Quaglia, A.; Gentile, A.; Drögemüller, C., Short communication: Prevalence of deleterious variants causing recessive disorders in Italian Chianina, Marchigiana and Romagnola cattle, «ANIMAL», 2022, 16, pp. 100569 - 100573 [articolo]

Marilena Bolcato , Mariana Roccaro , Joana G P Jacinto , Angelo Peli , Arcangelo Gentile , Ezio Bianchi, Use of Electrodiagnostics in the Diagnosis and Follow-Up of Brachial Plexus Syndrome in a Calf, «VETERINARY SCIENCES», 2022, 9, Article number: 136, pp. 1 - 10 [articolo]

Jacinto, Joana G. P.; Häfliger, Irene M.; McEvoy, Fintan J.; Drögemüller, Cord; Agerholm, Jørgen S., A De Novo Mutation in COL1A1 in a Holstein Calf with Osteogenesis Imperfecta Type II, «ANIMALS», 2021, 11, Article number: 561, pp. 1 - 9 [articolo]Open Access

Jacinto J.G.P.; Hafliger I.M.; Veiga I.M.B.; Letko A.; Gentile A.; Drogemuller C., A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle, «MOLECULAR GENETICS AND GENOMICS», 2021, 296, pp. 1313-1322 - 1322 [articolo]

Jacinto J.G.P.; Hafliger I.M.; Gentile A.; Drogemuller C., A heterozygous missense variant in MAP2K2 in a stillborn romagnola calf with skeletal-cardio-enteric dysplasia, «ANIMALS», 2021, 11, Article number: 1931, pp. 1931 - 1931 [articolo]Open Access

Joana G. P. Jacinto; Alysta D. Markey; Inês M. B. Veiga; Julia M. Paris; Monika Welle; Jonathan E. Beever; Cord Drögemüller, A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle, «GENES», 2021, 12, Article number: 1038, pp. 1038 - 1038 [articolo]Open Access

Kuca, Thibaud; Marron, Brandy M.; Jacinto, Joana G. P.; Paris, Julia M.; Gerspach, Christian; Beever, Jonathan E.; Drögemüller, Cord, A Nonsense Variant in Hephaestin Like 1 (HEPHL1) Is Responsible for Congenital Hypotrichosis in Belted Galloway Cattle, «GENES», 2021, 12, Article number: 643, pp. 1 - 11 [articolo]Open Access

Joana G. P. Jacinto, Irene M. Häfliger, Inês M. B. Veiga, Anna Letko, Cord Drögemüller, Arcangelo Gentile, A recessively inherited form of ichthyosis congenita in Chianina cattle is associated with a frameshift insertion in the FA2H gene, in: Proceedings of the European College of Bovine Health Management (ECBHM) Scientific Session 2021, 2021, pp. 29 - 30 (atti di: European College of Bovine Health Management (ECBHM) Scientific Session 2021, Online, 23.09.2021) [Contributo in Atti di convegno]

Jacinto JGP, Häfliger IM, Gentile A, Drögemüller C, Bolcato M, A 6.7 kb deletion in the COL2A1 gene in a Holstein calf with achondrogenesis type II and perosomus elumbis, «ANIMAL GENETICS», 2021, 52, pp. 244 - 245 [articolo]

Joana G. P. Jacinto; Irene M. Häfliger; Nicole Borel; Patrik Zanolari; Cord Drögemüller; Inês M. B. Veiga, Clinicopathological and Genomic Characterization of a Simmental Calf with Generalized Bovine Juvenile Angiomatosis, «ANIMALS», 2021, 11, Article number: 624, pp. 1 - 11 [articolo]Open Access

Häfliger, Irene M.; Marchionatti, Emma; Stengård, Michele; Wolf-Hofstetter, Sonja; Paris, Julia M.; Jacinto, Joana G. P.; Watté, Christine; Voelter, Katrin; Occelli, Laurence M.; Komáromy, András M.; Oevermann, Anna; Goepfert, Christine; Borgo, Angelica; Roduit, Raphaël; Spengeler, Mirjam; Seefried, Franz R.; Drögemüller, Cord, CNGB3 Missense Variant Causes Recessive Achromatopsia in Original Braunvieh Cattle, «INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES», 2021, 22, pp. 12440 - 12440 [articolo]

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