Concepedia

Eliana Disabella

ED

Statistics

Publications

8

Citations

418

H-Index

8

Active since

2005

Affiliations

Istituti di Ricovero e Cura a Carattere Scientifico(Current)

Policlinico San Matteo Fondazione

University of Pavia

Magna Graecia University

Eliana Disabella is an author at Istituti di Ricovero e Cura a Carattere Scientifico specializing in life sciences, genetics, and human genetics.

ORCID

Publications per year

2005–2016

8

Publications

8

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

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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 · 80 citations

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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 · 78 citations

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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

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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 · 65 citations · Full text

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