Sabrina Signorini - Concepedia

Author

Sabrina Signorini

Also Known As

Andrea Poretti, Giovanna, Signorini Sabrina, S SIGNORINI, S Signorini, S. Signorini, S.G. Signorini, SABRINA G SIGNORINI, SABRINA SIGNORINI, Sabrina G. Signorini, Sabrina Giovanna Signorini

162

Publications

3.2K

Citations

H-Index

Concepts

All Affiliations

University of Pavia 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

About

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

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	13	13	1.1K
2	Social Sciences	9	9	530
3	Education	5	5	212
4	Engineering	2	2	64
5	Health Sciences	2	2	99

Sabrina Signorini

Publications

2.7K

Citations

H-Index

Page 1

	Year	Citations
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome Enza Maria Valente, Jennifer L. Silhavy, Francesco Brancati, Nature Genetics Developmental BiologyMendelian DisorderJoubert SyndromeGenetic DisorderGenetics	2006	400
Spectrum of Visual Disorders in Children With Cerebral Visual Impairment Elisa Fazzi, Sabrina Signorini, Stefania Maria Bova, Journal of Child Neurology Ocular DiseaseNeurological DisorderOptic NerveSocial SciencesCerebral Visual Impairment	2007	226
Cognitive visual dysfunctions in preterm children with periventricular leukomalacia Elisa Fazzi, Stefania Maria Bova, Alessia Giovenzana, Developmental Medicine & Child Neurology	2009	187
Neuro‐ophthalmological disorders in cerebral palsy: ophthalmological, oculomotor, and visual aspects Elisa Fazzi, Sabrina Signorini, Roberta La Piana, Developmental Medicine & Child Neurology	2012	170
CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders Francesco Brancati, Giuseppe Barrano, Jennifer L. Silhavy, The American Journal of Human Genetics UrologyGenetic DisorderGeneticsInherited Metabolic DiseaseRenal Pathology	2007	156
Clinical and Molecular Genetics of Leber's Congenital Amaurosis: A Multicenter Study of Italian Patients Francesca Simonelli, Carmela Ziviello, Francesco Testa, Investigative Ophthalmology & Visual Science	2007	138
Visual–perceptual impairment in children with periventricular leukomalacia Elisa Fazzi, Stefania Maria Bova, C. Uggetti, Brain and Development Visual CognitionOphthalmologyPediatricsPediatric OphthalmologyVisual–perceptual Impairment	2004	129
BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome Alejandro Estrada‐Cuzcano, Robert K. Koenekoop, Audrey Sénéćhal, Archives of Ophthalmology	2012	125
<i>MKS3/TMEM67</i>mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement Francesco Brancati, Miriam Iannicelli, Lorena Travaglini, Human Mutation Joubert SyndromeLiver InvolvementGeneticsPathologyMolecular Genetics	2008	105
Visual Function Classification System for children with cerebral palsy: development and validation Giovanni Baranello, Sabrina Signorini, Francesca Tinelli, Developmental Medicine & Child Neurology	2019	90

Page 1