P
Pierangela Castorina
Researcher at Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
Publications - 37
Citations - 1986
Pierangela Castorina is an academic researcher from Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico. The author has contributed to research in topics: Missense mutation & Hearing loss. The author has an hindex of 22, co-authored 35 publications receiving 1751 citations. Previous affiliations of Pierangela Castorina include University of Milan.
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Journal ArticleDOI
GJB2 mutations and degree of hearing loss: a multicenter study.
Rikkert L. Snoeckx,Patrick L. M. Huygen,Delphine Feldmann,Sandrine Marlin,Françoise Denoyelle,Jaroslaw Waligora,Małgorzata Mueller-Malesińska,Agneszka Pollak,Rafał Płoski,Alessandra Murgia,Eva Orzan,Pierangela Castorina,Umberto Ambrosetti,Ewa Nowakowska-Szyrwinska,Jerzy Bal,Wojciech Wiszniewski,Andreas R. Janecke,Doris Nekahm-Heis,Pavel Seeman,O. Bendová,Margaret A. Kenna,Anna Frangulov,Heidi L. Rehm,Mustafa Tekin,Armagan Incesulu,Hans Henrik M. Dahl,Desirée du Sart,Lucy Jenkins,Deirdre Lucas,Maria Bitner-Glindzicz,Karen B. Avraham,Zippora Brownstein,Ignacio del Castillo,Felipe Moreno,Nikolaus Blin,Markus Pfister,István Sziklai,Tímea Tóth,Philip M. Kelley,Edward S. Cohn,Lionel Van Maldergem,Pascale Hilbert,Anne Françoise Roux,Michel Mondain,Lies H. Hoefsloot,Cor W. R. J. Cremers,Tuija Löppönen,Heikki Löppönen,Agnete Parving,Karen Grønskov,Iris Schrijver,Joseph B. Roberson,Francesca Gualandi,Alessandro Martini,Geneviève Lina-Granade,Nathalie Pallares-Ruiz,Céu Correia,Graça Fialho,Kim Cryns,Nele Hilgert,Paul Van de Heyning,Carla Nishimura,Richard J.H. Smith,Guy Van Camp +63 more
TL;DR: The association between genotype and degree of hearing loss in persons with HI and biallelic GJB2 mutations was assessed and two genotypes had significantly more-severe HI than that of 35delG homozygotes.
Journal ArticleDOI
A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy
Montserrat Rodríguez-Ballesteros,Raúl Reynoso,Margarita Olarte,Manuela Villamar,Constantino Morera,Rosamaria Santarelli,Edoardo Arslan,Carme Medá,Carlos Curet,C. Völter,Manuel Sainz-Quevedo,Pierangela Castorina,Umberto Ambrosetti,Stefano Berrettini,Klemens Frei,Socorro Tedín,Janine Smith,M. Cruz Tapia,Laura Cavallé,Nancy Gelvez,Paola Primignani,Elena Gómez-Rosas,Mirta Martín,M A Moreno-Pelayo,Martalucía Tamayo,José Moreno-Barral,Felipe Moreno,Ignacio del Castillo +27 more
TL;DR: The results confirm that mutation of the OTOF gene correlates with a phenotype of prelingual, profound NSHI, and indicate that OtoF mutations are a major cause of inherited auditory neuropathy.
Journal ArticleDOI
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,Dorella Del Prete,Sandro Feriozzi,G. Gai,Maurizio Clementi,A. La Manna,Nunzia Miglietti,Roberta Mancini,Giorgia Mandrile,Gian Marco Ghiggeri,Giorgio Piaggio,Francesco Brancati,L. Diano,E. Frate,A.R. Pinciaroli,Marisa Giani,Pierangela Castorina,Elena Bresin,Daniela Giachino,M. De Marchi,Francesca Mari,Mirella Bruttini,Alessandra Renieri,Francesca Ariani +25 more
TL;DR: A high frequency of mutations was shown in patients with only 1 or 2 clinical criteria, suggesting NGS as first‐level analysis in cases with a clinical suspicion of ATS, and the AD form must be seriously taken into account in all pedigrees with affected individuals in each generation.
Journal ArticleDOI
Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour
Angela Sparago,Silvia Russo,Flavia Cerrato,Serena Ferraiuolo,Pierangela Castorina,Angelo Selicorni,Christine Schwienbacher,Massimo Negrini,Giovanni Battista Ferrero,Margherita Silengo,Cecilia Anichini,Lidia Larizza,Andrea Riccio +12 more
TL;DR: The methylation pattern at the IGF2-H19 locus together with the clinical phenotypes in the individuals with maternal and those with paternal transmission of five different deletions are analyzed, demonstrating that maternal transmission of 1.4-1.8 kb deletions in the IC1 region co-segregates with the hypermethylation of the residual CTSs and BWS phenotype with complete penetrance, whereas normal phenotype is observed upon paternal transmission.
Journal ArticleDOI
NF1 Microdeletion Syndrome: Refined FISH Characterization of Sporadic and Familial Deletions with Locus-Specific Probes
Paola Riva,L. Corrado,Federica Natacci,Pierangela Castorina,Bai Li Wu,Gretchen H. Schneider,Maurizio Clementi,Romano Tenconi,Bruce R. Korf,Lidia Larizza +9 more
TL;DR: This characterization of gross NF1 deletions provides the premise for addressing correctly any genotype-phenotype correlation in the subset of patients with NF1 Delets, and identifies the genes that map to each deletion interval.