20092018

Research output per year

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Fingerprint Dive into the research topics where Isabella Giovannoni is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Research Output

Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency

Callea, F., Giovannoni, I., Francalanci, P., Boldrini, R., Faa, G., Medicina, D., Nobili, V., Desmet, V. J., Ishak, K., Seyama, K. & Bellacchio, E., May 16 2018, In : Orphanet Journal of Rare Diseases. 13, 1, p. 79 9 p.

Research output: Contribution to journalArticle

  • A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype

    Callea, M., Eric Willoughby, C., Camarata-Scalisi, F., Giovannoni, I., Vinciguerra, A., Yavuz, I., Di Stazio, M., Di Iorio, E., Clarich, G., Benettoni, A., Galeotti, A. & Bellacchio, E., Mar 2017, In : Investigacion Clinica. 58, 1, p. 70-8 9 p.

    Research output: Contribution to journalArticle

  • A novel fibrinogen gamma chain mutation (c.1096C>G; p.His340Asp), fibrinogen Ankara, causing hypofibrinogenaemia and hepatic storage

    Callea, F., Giovannoni, I., Sari, S., Aksu, A. U., Esendagly, G., Dalgic, B., Boldrini, R., Akyol, G., Francalanci, P. & Bellacchio, E., Aug 1 2017, In : Pathology. 49, 5, p. 534-537 4 p.

    Research output: Contribution to journalLetter

    Fibrinogen gamma chain mutations provoke fibrinogen and apolipoprotein B plasma deficiency and liver storage

    Callea, F., Giovannoni, I., Sari, S., Gulda, E., Dalgic, B., Akyol, G., Sogo, T., Al-Hussaini, A., Maggiore, G., Bartuli, A., Boldrini, R., Francalanci, P. & Bellacchio, E., Dec 15 2017, In : International Journal of Molecular Sciences. 18, 12, 2717.

    Research output: Contribution to journalArticle

  • Mutación c.3037G>A en el gen FBN1 causa sindrome de Marfan con fenotipo atípico severo

    Translated title of the contribution: A c.3037G>a mutation in FBN1 gene causing marfan syndrome with an atypically severe phenotypeCallea, M., Willoughby, C. E., Camarata-Scalisi, F., Giovannoni, I., Vinciguerra, A., Yavuz, I., Di Stazio, M., Di Iorio, E., Clarich, G., Benettoni, A., Galeotti, A. & Bellacchio, E., Jan 1 2017, In : Investigacion Clinica (Venezuela). 58, 1, p. 70-78 9 p.

    Research output: Contribution to journalArticle