Concepedia

Isabella Torrente

IT

38

Publications

2.2K

Citations

25

H-Index

1998

Active since

Affiliations

Istituti di Ricovero e Cura a Carattere Scientifico(Current)

Sapienza University of Rome

Casa Sollievo della Sofferenza

Bambino Gesù Children's Hospital

University of Rome Tor Vergata

Isabella Torrente is an author at Istituti di Ricovero e Cura a Carattere Scientifico specializing in medicine, genetics, and molecular genetics.

Top concepts

Publications per year

1998–2023

38

Publications

38

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

Bhaswati Pandit, Anna Sárközy, L Pennacchio et al. · Nature Genetics · 2007 · 694 citations

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p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

Valentina Pinna, Valentina Lanari, Paola Daniele et al. · European Journal of Human Genetics · 2014 · 134 citations · Full text

, , +9

ATM gene alterations in chronic lymphocytic leukemia patients induce a distinct gene expression profile and predict disease progression

Anna Guarini, M Marinelli, Simona Tavolaro et al. · Haematologica · 2011 · 100 citations · Full text

Type 2 Deiodinase Polymorphism (Threonine 92 Alanine) Predicts l-Thyroxine Dose to Achieve Target Thyrotropin Levels in Thyroidectomized Patients

Massimo Torlontano, Cosimo Durante, Isabella Torrente et al. · The Journal of Clinical Endocrinology & Metabolism · 2007 · 93 citations

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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