• 257 Citations
  • 8 h-Index
20052016
If you made any changes in Pure these will be visible here soon.

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

  • 9 Similar Profiles
Fabry Disease Medicine & Life Sciences
Marfan Syndrome Medicine & Life Sciences
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Galactosidases Medicine & Life Sciences
Genetic Testing Medicine & Life Sciences
Somatotropin Receptors Medicine & Life Sciences
Heart Diseases Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 2005 2016

  • 257 Citations
  • 8 h-Index
  • 12 Article
14 Citations (Scopus)

Genetic Screening of Anderson-Fabry Disease in Probands Referred From Multispecialty Clinics

Favalli, V., Disabella, E., Molinaro, M., Tagliani, M., Scarabotto, A., Serio, A., Grasso, M., Narula, N., Giorgianni, C., Caspani, C., Concardi, M., Agozzino, M., Giordano, C., Smirnova, A., Kodama, T., Giuliani, L., Antoniazzi, E., Borroni, R. G., Vassallo, C., Mangione, F. & 26 others, Scelsi, L., Ghio, S., Pellegrini, C., Zedde, M., Fancellu, L., Sechi, G. P., Ganau, A., Piga, S., Colucci, A., Concolino, D., Di Mascio, M. T., Toni, D., Diomedi, M., Rapezzi, C., Biagini, E., Marini, M., Rasura, M., Melis, M., Nucera, A., Guidetti, D., Mancuso, M., Scoditti, U., Cassini, P., Narula, J., Tavazzi, L. & Arbustini, E., Sep 6 2016, In : Journal of the American College of Cardiology. 68, 10, p. 1037-1050 14 p.

Research output: Contribution to journalArticle

Galactosidases
Fabry Disease
Genetic Testing
Peripheral Nerves
Mutation
36 Citations (Scopus)

Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2)

Disabella, E., Grasso, M., Gambarin, F. I., Narula, N., Dore, R., Favalli, V., Serio, A., Antoniazzi, E., Mosconi, M., Pasotti, M., Odero, A. & Arbustini, E., Feb 2011, In : Heart. 97, 4, p. 321-326 6 p.

Research output: Contribution to journalArticle

Aneurysm
Smooth Muscle
Dissection
Actins
Thorax
3 Citations (Scopus)

Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy: Case report

Concolino, D., Rapsomaniki, M., Disabella, E., Sestito, S., Pascale, M. G., Moricca, M. T., Bonapace, G., Arbustini, E. & Strisciuglio, P., May 17 2010, In : BMC Pediatrics. 10, 32.

Research output: Contribution to journalArticle

Fabry Disease
Phenylketonurias
Gastroenteritis
Abdominal Pain
Inborn Errors Metabolism
33 Citations (Scopus)

When should cardiologists suspect anderson-fabry disease?

Gambarin, F. I., Disabella, E., Narula, J., Diegoli, M., Grasso, M., Serio, A., Favalli, B. M. E. V., Agozzino, M., Tavazzi, L., Fraser, A. G. & Arbustini, E., Nov 15 2010, In : The American Journal of Cardiology. 106, 10, p. 1492-1499 8 p.

Research output: Contribution to journalArticle

Fabry Disease
Left Ventricular Hypertrophy
Heart Diseases
Galactosidases
Enzyme Replacement Therapy
34 Citations (Scopus)

The shortness of Pygmies is associated with severe under-expression of the growth hormone receptor

Bozzola, M., Travaglino, P., Marziliano, N., Meazza, C., Pagani, S., Grasso, M., Tauber, M., Diegoli, M., Pilotto, A., Disabella, E., Tarantino, P., Brega, A. & Arbustini, E., Nov 2009, In : Molecular Genetics and Metabolism. 98, 3, p. 310-313 4 p.

Research output: Contribution to journalArticle

Somatotropin Receptors
Insulin-Like Growth Factor I
Growth Hormone
Gene expression
Serum