Pierangela Castorina

Author

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

Also Known As

Castorina Pierangela, Castorina, P., Castorina, Pierangela, P Castorina, P. Castorina, Pierangela Castorina

Publications

2.3K

Citations

H-Index

Concepts

All Affiliations

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico University of Milan Ospedale Maggiore Istituti di Ricovero e Cura a Carattere Scientifico University of Siena

About

Pierangela Castorina is an author at Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	17	18	930
2	Arts	3	3	684
3	Public Health	2	2	157
4	Engineering	1	1	27
5	Health Sciences	1	1	75

Pierangela Castorina

Publications

2.2K

Citations

H-Index

Page 1

	Year	Citations
GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study Rikkert L. Snoeckx, P.L.M. Huygen, Delphine Feldmann, The American Journal of Human Genetics Genetic DisorderGeneticsAudiologyGenetic EpidemiologyGjb2 Mutations	2005	551
A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (<i>OTOF</i>) in subjects with nonsyndromic hearing impairment and auditory neuropathy Montserrat Rodríguez-Ballesteros, Raúl Reynoso, M. A. Gil Olarte, Human Mutation	2008	178
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases Chiara Fallerini, Laura Dosa, Rossella Tita, Clinical Genetics Relevant FractionNext GenerationMendelian DisorderGenetic DisorderGenetics	2013	140
Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour Angela Sparago, Silvia Russo, Flavia Cerrato, Human Molecular Genetics	2006	110
Early Volume Expansion and Outcomes of Hemolytic Uremic Syndrome Gianluigi Ardissino, Francesca Tel, Ilaria Possenti, PEDIATRICS	2015	109
NF1 Microdeletion Syndrome: Refined FISH Characterization of Sporadic and Familial Deletions with Locus-Specific Probes Paola Riva, Lucia Corrado, Federica Natacci, The American Journal of Human Genetics BiologyFish CharacterizationGenetic DisorderGeneticsMolecular Genetics	2000	107
A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing Giulia Soldà, Michela Robusto, Paola Primignani, Human Molecular Genetics Mir96 GenePre-mirna ProcessingGeneticsMolecular GeneticsEpigenetics	2011	107
Novel<i>TMEM67</i>mutations and genotype-phenotype correlates in meckelin-related ciliopathies Miriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli, Human Mutation	2010	89
Hemoconcentration: a major risk factor for neurological involvement in hemolytic uremic syndrome Gianluigi Ardissino, Valeria Daccò, Sara Testa, Pediatric Nephrology Major Risk FactorHemolytic Uremic SyndromeDialysis TherapyNeurovascular DiseaseThrombosis	2014	75
Enrichment of LOVD-USHbases with 152<i>USH2A</i>Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots David Baux, Catherine Blanchet, Christian Hamel, Human Mutation GeneticsExtensive Mutational SpectrumMolecular GeneticsDisease Gene IdentificationGenomics	2014	71

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