• 66 Citations
  • 6 h-Index
20092018
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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.

  • 1 Similar Profiles
Mutation Medicine & Life Sciences
Liver Medicine & Life Sciences
alpha 1-Antitrypsin Deficiency Medicine & Life Sciences
Fibrinogen Medicine & Life Sciences
Intrahepatic Cholestasis Medicine & Life Sciences
Marfan Syndrome Medicine & Life Sciences
Bile Acids and Salts Medicine & Life Sciences
Hypobetalipoproteinemia, Familial, Apolipoprotein B Medicine & Life Sciences

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Research Output 2009 2018

  • 66 Citations
  • 6 h-Index
  • 19 Article
  • 1 Letter

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

alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin
Inclusion Bodies
Isoelectric Focusing
Calcium

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

Marfan Syndrome
Eye Manifestations
Phenotype
Mutation
Connective Tissue Diseases
2 Citations (Scopus)

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

Hypobetalipoproteinemia, Familial, Apolipoprotein B
fibrinogen
Apolipoproteins B
mutations
liver

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

Marfan Syndrome
Phenotype
Mutation
Eye Manifestations
Genes