Eliana Disabella

Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies

Eloisa Arbustini, Maurizia Grasso, Silvia Ansaldi et al. · Human Mutation · 2005 · 91 citations · Full text

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

Mauro Bozzola, P. Travaglino, Nicola Marziliano et al. · Molecular Genetics and Metabolism · 2009 · 78 citations

Pituitary Gland, Growth Hormone, Endocrine Mechanism +8

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

Eliana Disabella, Maurizia Grasso, Fabiana Isabella Gambarin et al. · Heart · 2011 · 77 citations

Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects

Eliana Disabella, Maurizia Grasso, Nicola Marziliano et al. · European Journal of Human Genetics · 2005 · 74 citations · Full text

Developmental Biology, Fbn1 Gene Defects, Mendelian Disorder +8

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

Valentina Favalli, Eliana Disabella, Mariadelfina Molinaro et al. · Journal of the American College of Cardiology · 2016 · 61 citations · Full text

Anderson-fabry Disease, Genetic Disorder, Genetics +7