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Pierangela Castorina

Research Profile

Procedures

Disorders

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Chemicals & Drugs

Physiology

Genes & Molecular Sequences

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Chromosomes, Human, Pair 8

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Infants

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Publications

TOP 3
Francesca Crovetto; Massimo Cugno; Barbara Acaia; Gianluigi Ardissino; Nicolò Borsa; Pierangela Castorina; Kathy Frees; Carla Nishimura; Roberta Palla; Flora Peyvandi; Richard J H Smith; Edgardo Somigliana; Silvana Tedeschi; Luigi Fedele
The genetics of the alternative pathway of complement in the pathogenesis of HELLP syndrome.
Valentina Cirello; Claudia Bazzini; Paolo Beck-Peccoz; Guido Bottà; Pierangela Castorina; Antonia Maffini; Giuliano Meyer; Marina Muzza; Luca Persani; Simona Rodighiero; Valeria Vezzoli; Laura Fugazzola
Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss.
Giulia Soldà; Paola Primignani; Michela Robusto; Umberto Ambrosetti; Rosanna Asselta; Elena Benzoni; Pierangela Castorina; Antonio Cesarani; Stefano Duga
A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing.

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All Publications

2012: Francesca Crovetto; Massimo Cugno; Barbara Acaia; Gianluigi Ardissino; Nicolò Borsa; Pierangela Castorina; Kathy Frees; Carla Nishimura; Roberta Palla; Flora Peyvandi; Richard J H Smith; Edgardo Somigliana; Silvana Tedeschi; Luigi Fedele
The genetics of the alternative pathway of complement in the pathogenesis of HELLP syndrome.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2012;25(11):2322-5.
2012: Valentina Cirello; Claudia Bazzini; Paolo Beck-Peccoz; Guido Bottà; Pierangela Castorina; Antonia Maffini; Giuliano Meyer; Marina Muzza; Luca Persani; Simona Rodighiero; Valeria Vezzoli; Laura Fugazzola
Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss.
Molecular and cellular endocrinology 2012;351(2):342-50.
2012: Giulia Soldà; Paola Primignani; Michela Robusto; Umberto Ambrosetti; Rosanna Asselta; Elena Benzoni; Pierangela Castorina; Antonio Cesarani; Stefano Duga
A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing.
Human molecular genetics 2012;21(3):577-85.
2011: Luca Trotta; Elisabetta Iacona; Paola Primignani; Pierangela Castorina; Chiara Radaelli; Luca Del Bo; Domenico Coviello; Umberto Ambrosetti
GJB2 and MTRNR1 contributions in children with hearing impairment from Northern Cameroon.
International journal of audiology 2011;50(2):133-8.
2010: Faustina Lalatta; Donatella Quagliarini; Emanuela Folliero; Ugo Cavallari; Barbara Gentilin; Pierangela Castorina; Francesca Forzano; Serena Forzano; Enrico Grosso; Valeria Viassolo; Valeria Giorgia Naretto; Stefania Gattone; Florinda Ceriani; Francesca Faravelli; Luigi Gargantini
Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis.
European journal of pediatrics 2010;169(10):1255-61.
2007: Laura Fugazzola; Valentina Cirello; Silvia Dossena; Simona Rodighiero; Marina Muzza; Pierangela Castorina; Faustina Lalatta; Umberto Ambrosetti; Paolo Beck-Peccoz; Guido Bottà; Markus Paulmichl
High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional studies of the mutated SLC26A4 protein.
European journal of endocrinology / European Federation of Endocrine Societies 2007;157(3):331-8.
2007: Paola Primignani; Luca Trotta; Pierangela Castorina; Faustina Lalatta; Domenico Cuda; Alessandra Murri; Umberto Ambrosetti; Antonio Cesarani; Cristina Curcio; Domenico A Coviello; Maurizio Travi
A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafness.
The Laryngoscope 2007;117(5):821-4.
2007: 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
Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour.
Human molecular genetics 2007;16(3):254-64.
2005: Maria Francesca Bedeschi; Luigina Spaccini; Tommaso Rizzuti; Domenico A Coviello; Pierangela Castorina; Federica Natacci; Faustina Lalatta
Cumming syndrome with heterotaxia, campomelia and absent uterus/fallopian tubes.
American journal of medical genetics. Part A 2005;132A(3):329-30.
2003: Alessandro Beghini; Pierangela Castorina; Gaia Roversi; Philippe Modiano; Lidia Larizza
RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient.
American journal of medical genetics. Part A 2003;120A(3):395-9.
2003: Paola Primignani; Pierangela Castorina; F Sironi; Cristina Curcio; Umberto Ambrosetti; Domenico A Coviello
A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss.
Clinical genetics 2003;63(6):516-21.
2002: F Durand; Pierangela Castorina; C Morant; B Delobel; E Barouk; Philippe Modiano
[Rothmund-Thomson syndrome, trisomy 8 mosaicism and RECQ4 gene mutation].
Annales de dermatologie et de vénéréologie 2002;129(6-7):892-5.
2001: Luisa Doneda; Pierangela Castorina; Alessandra Tedeschi; Liliana Intropido; Enrica Morra; Marco Montillo; Lidia Larizza
Multicolor FISH in chronic lymphocytic leukemia. An interphase study of patients with early-onset disease.
Cancer genetics and cytogenetics 2001;125(1):63-9.
2000: Alessandro Beghini; Carla B Ripamonti; Pierangela Castorina; Laura Pezzetti; Luisa Doneda; Roberto Cairoli; Enrica Morra; Lidia Larizza
Trisomy 4 leading to duplication of a mutated KIT allele in acute myeloid leukemia with mast cell involvement.
Cancer genetics and cytogenetics 2000;119(1):26-31.
2000: Pierangela Castorina; Ornella Rodeschini; Gianfranco Nocera; Lidia Larizza
Reproductive follow-up of carriers of familial reciprocal balanced translocations involving chromosome 9 and comparison with predicted outcome.
Genetic counseling (Geneva, Switzerland) 2000;11(3):229-39.
2000: Paola Riva; Lucia Corrado; Federica Natacci; Pierangela Castorina; Bai-Lin Wu; GH Schneider; Maurizio Clementi; Romano Tenconi; Bruce Korf; Lidia Larizza
NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes.
American journal of human genetics 2000;66(1):100-9.
1998: Monica Miozzo; Pierangela Castorina; Paola Riva; Leda Dalprà; Anna Maria Fuhrman Conti; Ludovica Volpi; TS Hoe; Alan Soobeng Khoo; J Wiegant; C Rosenberg; Lidia Larizza
Chromosomal instability in fibroblasts and mesenchymal tumors from 2 sibs with Rothmund-Thomson syndrome.
International journal of cancer. Journal international du cancer 1998;77(4):504-10.
1997: Pierangela Castorina; Angelo Selicorni; F Bedeschi; Leda Dalprà; Lidia Larizza
Genotype-phenotype correlation in two sets of monozygotic twins with Williams syndrome.
American journal of medical genetics 1997;69(1):107-11.
1996: P Riva; Pierangela Castorina; S Manoukian; Leda Dalprà; Luisa Doneda; G Marini; J den Dunnen; Lidia Larizza
Characterization of a cytogenetic 17q11.2 deletion in an NF1 patient with a contiguous gene syndrome.
Human genetics 1996;98(6):646-50.