Concepedia

Sabrina Signorini

SS

42

Publications

2.7K

Citations

26

H-Index

2002

Active since

Affiliations

University of Pavia(Current)

Istituti di Ricovero e Cura a Carattere Scientifico

Fondazione Istituto Neurologico Nazionale Casimiro Mondino

Bambino Gesù Children's Hospital

Fondazione IRCCS Istituto Neurologico Carlo Besta

Sabrina Signorini is an author at University of Pavia specializing in medicine, social sciences, and neuroscience.

ORCID

Top concepts

Publications per year

2002–2025

42

Publications

42

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Enza Maria Valente, Jennifer L. Silhavy, Francesco Brancati et al. · Nature Genetics · 2006 · 400 citations

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Spectrum of Visual Disorders in Children With Cerebral Visual Impairment

Elisa Fazzi, Sabrina Signorini, Stefania Maria Bova et al. · Journal of Child Neurology · 2007 · 226 citations

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Cognitive visual dysfunctions in preterm children with periventricular leukomalacia

Elisa Fazzi, Stefania Maria Bova, Alessia Giovenzana et al. · Developmental Medicine & Child Neurology · 2009 · 187 citations

Neuro‐ophthalmological disorders in cerebral palsy: ophthalmological, oculomotor, and visual aspects

Elisa Fazzi, Sabrina Signorini, Roberta La Piana et al. · Developmental Medicine & Child Neurology · 2012 · 170 citations

CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders

Francesco Brancati, Giuseppe Barrano, Jennifer L. Silhavy et al. · The American Journal of Human Genetics · 2007 · 156 citations

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